Clinical Notes of Pediatrics]

2013

First

Edition

[CLINICAL NOTES OF PEDIATRICS]

History, Physical Examination & Previous OSCE Topics

Bedoor H. Al-Qadrah

بسم هللا الرحمن الرحيم

والصالة والسالم على أشرف األنبياء والمرسلين نبينا محمد وآله وصحبه آجمعين . .

أساس كل عمل فكره .. تولد يتيمه .. ال ينميها إال العمل المستمر واإلخالص في تنفيذها .. وال يقويها إال إبتغاء مرضاة هللا في ذلك فبفضل من هللا ومنته وحده .. تم اإلنتهاء من إعداد هذه المذكره المختصه بالجانب العملي لتخصص طب األطفال والهدف األساسي منها إفادة طلبة الطب والمتخرجين حديثا

وألن تخصص طب األطفال كبير وشاسع .. ويصعب حصره في عدد محدود من الصفحات تم التركيز في هذا العمل على أهم المواضيع الشائعه وأيضا ما قد تم وضعه في إختبارات األوسكي في السنوات السابقه

إختبارات األوسكي في دورة طب األطفال تتكون من أخذ التاريخ المرضي و عمل فحص جسدي للمريض باإلضافه إلى مناقشه مواضيع عامه في تخصص طب األطفال وهو الجانب األكبر في األوسكي

لذلك تم تقسيم المذكره إلى عدة أجزاء مختص كل منها بنظام معين لجسم اإلنسان ويندرج تحته: History + Physical Examination + Important Topics (Previous OSCE Topics)

وتم إعداد المواضيع على هيئة سؤال وجواب لتسهيل أكثر في المذاكره وفي تطبيقها عمليا

وألننا في النهاية بشر .. نخطئ ونصيب .. سيتم تجديد هذه المذكره بين فترة وأخرى حتى تفيد مستخدميها بشكل أفضل وهذا هو الهدف لذلك في حالة وجود أي مالحظات أو إقتراحات يرجى إرسالها عبر هذا اإليميل: [email protected]

في النهاية .. ال أبتغي من هذا العمل إال الدعاء بالخير في ظهر الغيب لي ولمن هم أغلى من روحي أمي وأبي سائلة هللا عز وجل أن يبارك في هذا العمل لكل من يستخدمه ويرزقه أعلى الدرجات

أختكم ... بدور حسن القدره

طالبة طب – السنة الخامسه جامعة الملك سعود

2013-09-08

2

Contents

GENERAL HISTORY & PHYSICAL EXAMINATION ...... 4 NEONATOLOGY ...... 14 CARDIOVASCULAR SYSTEM ...... 30 RESPIRATORY SYSTEM ...... 38 GASTROINTESTINAL SYSTEM ...... 55 GENITOURINARY SYSTEM ...... 76 NERVOUS SYSTEM ...... 87 MUSCULOSKELETAL SYSTEM ...... 114 ENDOCRINE SYSTEM ...... 127 DERMATOLOGY & HEMATOLOGICAL SYSTEM...... 145 REFERENCES ...... 164

3 General history & physical examination [CHAPTER 1]

Chapter 1

GENERAL HISTORY & PHYSICAL EXAMINATION

General history Developmental milestones Vaccination Physical growth Genetic syndromes General physical examination

4 General history & physical examination [CHAPTER 1]

General History

 Identifying data: o name o nationality o age o significant medical conditions o sex o informant (mother, father or other) -  Chief complaint: o reason that the child is seeking medical care (use their own words) o Duration of the symptoms

 History of present illness: Describe the course of the patient’s illness (in chronological order) including: o Onset o Relieving and Exacerbating factors o Course o Diurnal or seasonal variation o Duration o Relation to food or exercise o Site o School missing related to the complaint o Frequency o Any associated symptoms o Severity

 Past medical History: o medical problems o previous medications o Hospitalizations o Any known drug or food allergies? o Operations -  Current medication: o Names o Dosages and Frequencies

 Pregnancy and Neonatal History: o Mother’s illness during pregnancy (nature of illness-which trimester) o Mother’s medication o Exposure of the mother to radiation or smoking during pregnancy o Fetal movement o Length of gestation o Mode of delivery, any fetal distress o Birth weight, height and head circumference o APGAR score o Any neonatal disease or admission to NICU and why?

 Nutrition: o Breast or battle fed, type of formula & how was it prepared, frequency, amount & duration, reasons for any changes in formula o total daily intake o any difficulties or change in feeding habits o time of weaning o timing of introduction of solids and cereals, any problems created by specific types o appetite o Did the mother took the vit's+ minerals+folic acid during pregnancy? o Did the mother start feeding immediately after the delivery or delayed? o Is he/she the 1st baby or not?

5 General history & physical examination [CHAPTER 1]

o Is he/she taking regular family food? (For adult children) o Who's taking care of the baby?

 Immunizations: o Up to date? What was the last vaccine he/she received, when? o Check immunization card o If there is failure in taking the vaccine ask for the reasons o History of complications noticed after the vaccines (Rash, fever, convulsion)

 Developmental History: o Age of attainment of important milestones (you have to ask about the proper milestones for the age, see page9). If the patient is "preterm baby" use the corrected age o relationships with siblings, peers & adults o School grade and performance, any specific problems o behavioral problems (e.g. enuresis, temper tantrums, thumb sucking, pica, nightmares etc.)  N.B. if mother has other children; compare his or her development with his or her other siblings

 Family History: o Age of parents, condition of health & any chronic or inherited disease among them o consanguinity o which region the parents originally came from o medical problem in 1st degree relatives including the patient’s disorder (e.g. DM, HTN, seizures, cancer, heart disease, stroke, allergy & asthma etc.) o neonatal deaths o previous abortions

 Social History: o parents’ education, occupation and income of the family o marital state (mention if the husband having another wife) o Number of siblings & age range (any sibling from previous or another marriage) o daycare o living situation o Housing (type of accommodation) o Parents’ smoking habit ( if yes, is the smoker smoking around the kids or outside the house?) o contact with animal o recent travels o Safety: child car seats, smoke detector, bicycle helmets …

 Review of systems:  General: overall health, weight loss, behavioral change, fever, fatigue, feeding & appetite  Skin: rashes, moles, bruising, lumps, hair/nail changes.  Eyes: visual problems, eye pain or discharge  Ear, nose, throat: frequency of colds, pharyngitis, otitis media  Cardiovascular: chest pain, breathlessness, cyanosis, syncope, sweaty on feeding  Respiratory: cough, shortness of breath, wheezing, runny nose, hemoptysis  Gastrointestinal: nausea/vomiting, diarrhea or constipation, abdominal pain, jaundice  Genitourinary: frequency, dysuria, nocturia/enuresis, hematuria, polyuria, incontinence, vaginal discharge, age of menarche  Musculoskeletal: weakness, joint pain, gait abnormality, scoliosis  Neurological: headache, seizures  Endocrine: growth delay, polyphagia, excessive thirst/fluid intake, menses duration, amount of flow

6 General history & physical examination [CHAPTER 1]

General physical examination

Differences in Performing A Pediatric Physical Examination Compared to an Adult:

I. General Approach: A. Gather as much data as possible by observation first B. Position of child: parent’s lap vs. exam table C. Stay at the child’s level as much as possible. Do not tower!! D. Order of exam: least distressing to most distressing E. Rapport with child o Include child - explain to the child’s level o Distraction is a valuable tool F. Examine painful area last-get general impression of overall attitude G. Be honest. If something is going to hurt, tell them that in a calm fashion. Don’t lies or you lose credibility! H. Understand developmental stages’ impact on child’s response. For example, stranger anxiety is a normal stage of development, which tends to make examining a previously cooperative child more difficult.

II. Vital signs: A. Normals differ from adults, and vary according to age B. Temperature o Tympanic vs. oral vs. axillary vs. rectal C. Heart rate o Auscultate or palpate apical pulse or palpate femoral pulse in infant o Palpate antecubital or radial pulse in older child D. Respiratory rate -Observe for a minute. Infants normally have periodic breathing so that observing for only 15 seconds will result in a skewed number. E. Blood pressure o Appropriate size cuff - 2/3 width of upper arm o Site F. Growth parameters - must plot on appropriate growth curve o Weight o Height/length o OFC: Across frontal-occipital prominence so greatest diameter (Occipital Frontal Circumference)

Vital Sign Infant Child Pre-Teen/Teen 0 to 12 months 1 to 11 years 12 and up

Heart Rate 100 to 160 beats per minute (bpm) 70 to 120 bpm 60 to 100 bpm

0 to 6 months 1 to 5 years 30 to 60 breaths per minute (bpm) 20 to 30 (bpm) 1 Respiration (breaths) 12 to 18 bpm 6 to 12 months 6 to 11 years 24 to 30 bpm 12 to 20 bpm

0 to 6 months Blood Pressure 65 to 90/45 to 65 millimeters of mercury (mm Hg) 110 to 135/65 to 90 to 110/55 to 75 mm Hg (systolic/diastolic) 6 to 12 months 85 mm Hg 80 to 100/55 to 65 mm Hg

All ages All ages All ages 98.6 F 98.6 F Temperature 98.6 F (normal range is 97.4 F to (normal range is (normal range is 97.4 F to 99.6 F) 99.6 F) 97.4 F to 99.6 F)

7 General history & physical examination [CHAPTER 1]

III. Unique findings in pediatric patients (See outline below)

Outline of a Pediatric Physical Examination

I. Vitals: o See the table in page 7

II. General: o Statement about striking and/or important features. Nutritional status, level of consciousness, toxic or distressed, cyanosis, cooperation, hydration, dysmorphology, mental state o Obtain accurate weight, height and OFC

III. Skin and Lymphatics: o Birthmarks - nevi, hemangiomas, mongolian spots etc o Rashes, petechiae, desquamation, pigmentation, jaundice, texture, turgor o Lymph node enlargement, location, mobility, consistency o Scars or injuries, especially in patterns suggestive of abuse

IV. Head: o Size and shape o Sutures - overriding o Fontanels o Scalp and hair  Size  Tension - calm and in the sitting up position

V. Eyes: o General o Conjunctiva, sclera, cornea  Strabismus o Plugging of nasolacrimal ducts  Slant of palpebral fissures o Red reflex  Hypertelorism or telecanthus o Visual fields - gross exam o EOM o Pupils

VI. Ears: o Position of ears o Tympanic membranes  Observe from front and draw line o Hearing - Gross assessment only usually from inner canthi to occiput

VII. Nose: o Nasal septum o Sinus tenderness o Mucosa (color, polyps) o Discharge

VIII. Mouth and Throat: o Lips (colors, fissures) o Palate (intact, arch) o Buccal mucosa (color, vesicles, moist or o Tonsils (size, color, exudates) dry) o Posterior pharyngeal wall (color, lymph o Tongue (color, papillae, position, hyperplasia, bulging) tremors) o Gag reflex o Teeth and gums (number, condition)

IX. Neck: o Thyroid o Masses (cysts, nodes) o Trachea position o Presence or absence of nuchal rigidity

8 General history & physical examination [CHAPTER 1]

X. Back: o Sacral dimple o Kyphosis, lordosis or scoliosis

XI. Extremities: o Deformity o Edema o Symmetry o Clubbing

DEVELOPMENTAL MILESTONES

What are the developmental Red Flags?  Gross motor: Not walking at 18 months  Fine motor: handedness at < 1 0 months  Speech: <3 words at 1 8 months  Social: Not smiling at 3 months  Cognitive: No peek-a-boo at 9 months

9 General history & physical examination [CHAPTER 1]

VACCINATION

Saudi vaccination schedule:

How to administration of vaccines?  injection site: o Infant ( < 12 months old): anterolateral thigh o Children: deltoid  DTaP+IPV+Hib (Pentacel"', Pentavax'"): 5 vaccines given as one IM injection  two live vaccines (varicella, MMR) must be given subcutaneously either at the same visit or separated by 4 weeks or more

What are contraindications to any vaccine?  Moderate to severe illness ± fever (no need to delay vaccination for mild URTI)  Allergy to vaccine component

What are possible adverse reactions?  Any vaccine o local: induration or tenderness (MMR is especially painful!) o systemic: fever, rash  allergic: urticaria, rhinitis, anaphylaxis  specific vaccine reactions (see previous table)

10 General history & physical examination [CHAPTER 1]

PHYSICAL GROWTH

Normal Physical Growth:

 newborn size influenced by maternal factors (placenta, in utero environment)  premature infants ( <37 weeks): use corrected gestational age until2 years  not linear: most rapid growth during first two years and growth spurt at puberty  different tissue growth at different times  first two years: CNS  mid-childhood: lymphoid tissue  puberty: gonadal maturation (testes, breast tissue)  body proportions: upper/lower segment ratio - midpoint is symphysis pubis  newborn 1.7; adult male 0.97; adult female 1.0  poor correlation between birth weight and adult weight

Failure to thrive:

What is it? Usually, the term refers to failure to gain or maintain weight adequately (weight <3rd percentile, or falls across two major percentile curves, or <80% of expected weight for height and age)

What is the most common factor in poor weight gain? Inadequate caloric intake

List 7 causes. GI disorders, immune disorders, chronic diseases (consider CF!), inborn errors of metabolism, inadequate nutritional intake, CNS abnormalities, psychosocial problems

List 6 ways it is evaluated. Careful history, physical examination, weight measurements, review of growth data, and laboratory and radiographic studies as indicated

List the important points in history.  duration of problem and growth history  detailed dietary and feeding history, appetite, behavior before and after feeds, bowel habits  pregnancy, birth, and postpartum history, developmental and medical history (including medications), social and family history (parental height, weight, growth pattern)  assess 4 areas of functioning: child's temperament, child-parent interaction, feeding behavior and parental psychosocial stressors

11 General history & physical examination [CHAPTER 1]

List the important points in physical exam.  height (Ht), weight (Wt), head circumference (HC), arm span, upper-to-lower (U/L) segment ratio  assessment of nutritional status, dysmorphism, Tanner stage, evidence of chronic disease  observation of a feeding session and parent-child interaction  signs of abuse or neglect

What are the investigations that the clinical presentation indicate?  CBC, blood smear, electrolytes, urea, ESR, T4, TSH, urinalysis  bone age x-ray (left wrist- compared to standardized wrist x-rays)  karyotype in all short girls and in short boys where appropriate  any other tests indicated from history and physical exam: renal or liver function tests, venous blood gases, ferritin, immunoglobulins, sweat chloride, fecal fat

What are the types of FTT?  Organic: caused by physical or mental issues with the child himself. It can include various inborn error of metabolism, gas and acid reflux, Cystic fibrosis, diarrhea ,liver disease, celiac disease, cleft palate… etc.  Nonorganic: occurs in children with no known medical condition, Caused by caregiver's actions. E.g. include physical inability to produce enough breast milk, inability to procure formula when needed, purposely limiting total caloric intake… etc.  Mixed: occurs when the child has features of both

GENETIC SYNDROMES

Common genetic syndromes:

12 General history & physical examination [CHAPTER 1]

Most common sex chromosome disorders:

Other genetic syndromes:

13 Neonatology [CHAPTER 2]

Chapter 2

NEONATOLOGY

Physical examination of the Important topics: newborn infant Apgar scores Newborn resuscitation Evaluation of the newborn Neonatal jaundice Neonatal cyanosis Neonatal respiratory distress Neonatal hypotonia

14 Neonatology [CHAPTER 2]

Physical examination of the newborn infant

 A complete physical examination should be done within 12 hours of birth.  The examination can be done while the infant is quiet & relaxed  If the infant is sleeping or is quiet, auscultation of the heart and lungs and palpation and auscultation of the abdomen are done first, followed by a head-to-toe inspection and palpation  adequate light, warm hands & environment are prerequisite  proper hand washing before examination is essential  vital sign should be recorded: o pulse (normal 120 – 160 / minute) o respiratory rate (40 – 60 / minute) o temperature  weight (normal 2500-4500g), length & head circumference should be plotted on centile chart

General appearance:  alertness  color (cyanosis of cold periphery is normal)  movements  dysmorphism

Skin:  pallor (circulatory failure or anemia)  jaundice  mottling  rash (erythema toxicum, septic spots, herpes,  plethora (polycythemia) transient pustular melanosis)  birth marks, hemangiomas, Mongolian  edema (generalized: hydrops) (localized: blue spots hands & feet in turner's syndrome)

Head:  size: o microcephaly: familial, congenital infection o macrocephaly: hydrocephalus, familial, achondroplasia, hydranencephaly  shape  fontanelles & sutures  masses – cephalohematoma (collection of blood under the periosteum whitch does not cross sutures) – caput succedaneum (edematous scalp of the presenting part)

Face:  Dysmorphic features Eyes:  Microphthalmia as in congenital rubell  Aniridia (association with Wilms tumor & other syndrome urogenital anomalies  Buphthalmos (corneal diameter >1cm)  Red reflex suggests absence of cataract &  Slant of palpebral fissures (upward or major intraocular pathologies downward)  Leukokoria (white papillary reflex) seen with  Conjunctival hemorrhage cataract, ROP & retinoblastoma  Coloboma of the lids or the iris  Hypertelorism (widely spread eyes) or (syndromes) hypotelorism

15 Neonatology [CHAPTER 2]

Ears:  Low set ears (classically seen in Down's  Ear drums appear normally dull gray syndrome)  Malformations & periauricular tags

Nose:  evaluation of patency of the nasal passages

Mouth:  Natal teeth (remove only if loose or interfere with feeding  Large tongue is seen in congenital hypothyroidism, Beckwith – Wiedemann syndrome & others but glossoptosis is seen with Pierre Robin syndrome  Cleft lip & palate  High arched palate  Lingual thyroid

Neck:  Normally short  Swellings: goiter, cystic hygeroma, thyroglossal cyst, sternomastoid mass  Redundant skin at the back of the neck is seen with Down's syndrome & is associated with webbing in Turner's syndrome

Respiratory:  Chest shape: pectus, nipples (engorgement, space), movements  Sounds: (grunting, stridor, crying), air entry, breath sounds, added sounds

Cardiovascular:  Pulse: rate, rhythm, volume, etc.  weak femoral pulse & higher BP in upper limbs than  Dextrocardia lower limbs (coarctation of the Aorta)  Heart sounds  murmur

Abdomen:  distended or scaphoid  hernias  organomegaly  bowel sounds

Genitalia:  sex  labial fusion  ambiguity  hypospadias  testis  check anal patency

Extremities:  size & shape (e.g. Hemihypertrophy)  club feet  digits (count, syndactyly, etc.)

Back:  Mongolian blue spots  Sinus  Hair tuft  Scoliosis  Dimples

Hips:  Asymmetry o groin creases  Barlow's & Ortolani's test (see page 124)

16 Neonatology [CHAPTER 2]

Neurology:  Alertness  Reflexes  Movement & posture  Primitive reflexes  Tone

Gestational Age (GA) and Size:

 Classification by gestational age (GA): o Pre-term: <37 weeks o Term: 37-42 weeks o Post-term: >42 weeks Abnormalities of gestational age & size:

17 Neonatology [CHAPTER 2]

 Classification by birth weight: o Small for gestational age (SGA): 2 SD < mean weight for GA or <3rd percentile o appropriate for gestational age (AGA): within 2 SD of mean weight for GA o large for gestational age (LGA): 2 SD > mean weight for GA or >97th percentile

The premature neonate:

The new Ballard score:  Use this score sheet to assess the gestational maturity of your baby

Neuromuscular maturity:

Physical maturity:

Sign Sign score

Skin

Langue Plantar

surfaces

Breast

Eye/Ear

Genital (male)

Genital

(female)

Total neuromuscular score

18 Neonatology [CHAPTER 2]

 Then the total score determines the gestational maturity in weeks

Maturity rating:

19 Neonatology [CHAPTER 2]

Important topics

APGAR SCORES

What is the Apgar score? A method of evaluating a newborn introduced in 1953 by Dr. Virginia Apgar. Five physical signs are identified, and a score of 0, 1, or 2 is given to each sign at 1 minute and 5 minutes after birth.

What are the 5 signs evaluated, and what constitutes a score of 0, 1, and 2 for each sign?

What is the APGAR mnemonic? Appearance, pulse, grimace, activity, and Respirations

What do the 1- and 5-minute scores imply? The 1-minute score indicates the infant’s initial condition. The 5-minute score indicates the infant’s improvement, continued well-being, or subsequent decline (depending on the initial score).

Should additional Apgar assessments be made beyond 5 minutes? If the Apgar score is <7 at 5 minutes, checking of Apgar scores every 5 minutes for the subsequent 20 minutes is helpful to assess resuscitation efforts.

NEWBORN RESUSCITATION

INITIAL ASSESSMENT:

List 3 components of initial assessment and management of a newborn. 1. Gentle suction of the mouth, nose, and pharynx with a bulb syringe or suction catheter 2. Drying of the infant to minimize evaporative heat loss with warming via radiant heat 3. Evaluation of the infant’s color, respiratory effort, and heart rate

What are the potential risks of suctioning? Deep suctioning should be avoided in the initial resuscitation because this may induce laryngeal spasm, increase vagal tone resulting in apnea and bradycardia, or result in trauma to the pharynx or esophagus

20 Neonatology [CHAPTER 2]

INTUBATION:

List 5 signs of inadequate oxygenation and ventilation. 1. Poor color 2. Poor (or lack of) responsiveness 3. Lack of movement of chest with bag-and-mask ventilation 4. Falling oxygen saturation 5. Falling heart rate (normal newborn heart rate 120–160 beats/min [bpm])

What is the appropriate positioning for bag-and-mask ventilation? Placement of the mask over the mouth and nose, with the head and neck slightly extended

What is the primary indication for intubation? Inability to oxygenate and ventilate an infant adequately via bag-and-mask ventilation

What sizes of ETTs are appropriate for infants? Uncuffed tubes with internal diameters of 2.5, 3.0, or 3.5 mm, depending on the infant’s size

List 6 important anatomic and position considerations during intubation. 1. The infant’s head and neck should be slightly extended. 2. The larynx is more anterior and caudad in the neonate than in the older child or adult. 3. The epiglottis tends to hang over the vocal cords. 4. A straight-blade laryngoscope with a Miller 0 or 1 blade is usually most useful for visualizing the airway. 5. The ETT should be placed only 1–1.5 cm beyond the cords to avoid mainstem (usually right- sided) intubation. A weight-to-distance correlation of 1–2–3 kg:7–8–9 cm (i.e., tube marking at infant’s lip) is extremely useful for determining the appropriate distance for tube placement. 6. The chest should be auscultated for symmetric breath sounds over both lung fields and absence of sounds over the stomach. There should be symmetric chest rise, and ideally the infant’s heart rate and color will improve. End-tidal CO2 monitor or CO2 detector can confirm tracheal intubation. Chest x-ray confirms the appropriate placement of the tube.

EVALUATION OF THE NEWBORN

What is SGA? Small for gestational age; defined as less than the 5th or 10th percentile for gestational age

List 5 concerns about SGA. Increased caloric needs (relative to their weight), a higher mortality rate, increased risk of malformations, hypoglycemia, and congenital infections

What is symmetric growth retardation? Growth retardation of length, weight, and head circumference

List 3 causes of symmetric growth retardation. 1. An early insult or chronic condition in the pregnancy (e.g., teratogen, maternal disease) 2. A malformation syndrome (including chromosome abnormalities) 3. Early infection - Alternatively, the parents may be small in stature

21 Neonatology [CHAPTER 2]

Why may asymmetric growth retardation occur? If weight is disproportionately low (relative to length and head circumference), it implies an insult later in pregnancy (e.g., maternal hypertension, placental insufficiency).

What is LGA? Large for gestational age

List 3 causes of LGA. 1. Maternal diabetes (including gestational diabetes) 2. Beckwith-Wiedemann syndrome 3. Twin-twin transfusion (recipient twin LGA)

List 3 complications of LGA. 1. Hypoglycemia 2. Increased incidence of injury at birth 3. Complications related to underlying Cause

What is an IDM? Infant of a diabetic mother

List 7 conditions that IDMs are at risk for. Hypoglycemia, hypocalcemia, polycythemia, respiratory distress, renal vein thrombosis, small left colon syndrome, and malformations - particularly CHD and variants of caudal regression syndrome

List 4 purposes of the delivery room assessment. 1. Determine whether the infant will need resuscitation. 2. Assess for obvious malformations or abnormalities. 3. Estimate gestational age. 4. Assess the infant’s cardiopulmonary transition from the intrauterine environment to the outside world.

List clinical information important for the evaluation of the newborn. 1. Pregnancy history: gestational age, maternal disease, maternal medications, other complications 2. Labor and delivery history: type of delivery, time of rupture of membranes, medications during the labor, bleeding 3. Maternal laboratory data: blood type; antibody screen; screens for syphilis, hepatitis B, and HIV

List 3 purposes of the later, more complete examination. 1. Evaluate infant for malformations. 2. Establish normalcy of growth and function. 3. Document physical findings.

What 3 physical measurements are routinely done? 1. Head circumference (using greatest occipital-to-frontal diameter) 2. Weight 3. Crown-to-heel length - All measurements should be analyzed, using standard curves, for appropriateness for gestational age

22 Neonatology [CHAPTER 2]

What is vernix caseosa? A white greasy coating on the skin of newborns; more common in preterm infants

What is lanugo? Fine hair that covers the body of infants; more common in premature infants

List 3 characteristics of staphylococcal rashes. 1. Pustules 2. Generalized erythema 3. Bullous eruptions (referred to as staphylococcal scalded skin syndrome, toxic epidermal necrosis, or Ritter disease)

What is a characteristic of herpes simplex rashes? Vesiculobullous eruptions (may be only a few vesicles) on an erythematous base

Is palpable breast tissue normal in newborns? Yes. About 1 cm of palpable breast tissue may be present in males or females because of maternal estrogens.

Are heart murmurs common in newborns? Soft, short systolic murmurs are common. Loud or harsh murmurs should arouse Suspicion

What 3 conditions are associated with diminished or absent femoral pulses? 1. Coarctation of the aorta 2. interrupted aortic arch 3. hypoplastic left heart syndrome

How is the fontanel measured? Anteroposterior and side-to-side dimensions (largest measurement of each)

List 4 disorders that are associated with an enlarged anterior fontanel. Hydrocephalus, hypothyroidism, hypophosphatasia, and skeletal dysplasias (e.g., osteogenesis imperfecta)

List 3 kinds of disorders that are associated with a small fontanel. Microcephaly, craniostenosis, and craniosynostosis syndromes

What is a cephalohematoma? A hematoma beneath the periosteum of the cranium

What is caput succedaneum? Edema of the soft tissues of the scalp

How can cephalohematoma and caput succedaneum be differentiated? Cephalohematomas do not cross suture lines

What is the red reflex? The red reflection of the retina through the lens of the eye; a normal red reflex implies that there are no large lens opacities (e.g., cataracts), corneal clouding (e.g., congenital glaucoma), or large retinal tumors

23 Neonatology [CHAPTER 2]

Why is a catheter passed through both sides of the nose? To rule out choanal atresia or stenosis

Why not do this immediately after birth? It may cause a vagal response with bradycardia.

Why is it important to have patent choanae? Infants are obligate nose breathers, so choanal atresia can cause respiratory distress.

What is the most common fracture during delivery? Fracture of the clavicle

How large is the newborn liver? The normal newborn liver may be palpable 1–2 cm below the right costal margin.

What is the normal number of vessels in the umbilical cord? 3 vessels (2 arteries and 1 vein)

When does the umbilical cord usually dry and fall off? Usually before 3 weeks of age

What is acrocyanosis? Bluish discoloration of the hands and feet; not rare in newborns but may be abnormal in older infants

What is hypospadias? Abnormal location of penile urethral meatus along the ventral aspect of the shaft

What is chordee? Bowing or bending of the penile shaft

How do the labia minora vary with gestational age? The labia minora are prominent in preterm females, usually protruding beyond the labia majora. They gradually become covered by the enlarging labia majora.

What is the significance of hair, swelling, or reddish discoloration in the lumbosacral area? This is sometimes associated with spina bifida occulta, tethered cord.

What is the significance of a dimple at the base of the spine? Dimples located below the gluteal crease are usually insignificant. Dimples higher along the spine require investigation for occult spina bifida or tethered cord.

What is syndactyly? Cutaneous fusion of the digits

What is polydactyly? Presence of extra digits

When can feedings begin for a newborn? - Breast: Breast-feed immediately after delivery and every 3–4 hours or on demand. - Formula by bottle: Begin when respiratory status is stable and every 4 hours or on demand.

24 Neonatology [CHAPTER 2]

Is circumcision of males routine? No. The indications for circumcision have traditionally been primarily cultural and religious. However, there are some studies suggesting medical benefits to circumcision including decreased risk of UTI in infancy and of HIV, other STDs, and penile cancer in adulthood. Parents should be appropriately informed about the pros and cons of the procedure.

Should local anesthesia be used for circumcision? Yes (usually 1% lidocaine) as a dorsal penile or ring block. Topical EMLA is also effective.

List 6 contraindications for circumcision. Hypospadias, chordee, micropenis, exposure to herpes simplex during labor or delivery, ambiguous genitalia , and bleeding disorder or family history of a bleeding disorder (a contraindication until the child has been tested and either is found to be unaffected or is successfully treated

What laboratory studies should typically be obtained in the newborn? 1. Capillary Hct and bilirubin at 4 hours when Rh sensitization is known or newborn is pale in color, twin gestation, IDM, or SGA. Investigate if Hct <40% or >70% and bilirubin >4 mg/dL. 2. Glucose screen within 1 hour and prn if weight < 2,500 g or >90th percentile for gestational age (LGA); or if newborn is jittery or has respiratory distress, unstable temperature, or apnea. Investigate if value < 50 mg/dL. 3. At discharge, state-required “newborn screening tests.” (These vary from state to state and may include tests for hypothyroidism, tyrosinemia, phenylketonuria, galactosemia, maple syrup urine disease, homocystinuria, biotinidase deficiency, adrenal hyperplasia, hemoglobinopathies, and CF, among others.) 4. Hearing screen before discharge 5. Total bilirubin determination, using either serum bilirubin or noninvasive photometric method. Timed result can be used to determine the risk for significant hyperbilirubinemia and need for follow-up after discharge.

NEONATAL JAUNDICE

What is it? - Accumulation of bilirubin in the epidermal tissues of the body, resulting in a yellowish tinge to the skin, sclera, and mucosa. - Jaundice is a common neonatal problem with an incidence of 60% in term & 80% in preterm infants. It's mostly due to physiological jaundice, which starts after 24 hours of life & fades away be one week. - N.B. jaundice developing within first 24 hours of life is always pathological

At what bilirubin level is jaundice usually evident in the newborn? Serum levels _ 5.0 mg/dL

What type of bilirubin is most commonly elevated in the neonate? Unconjugated bilirubin

25 Neonatology [CHAPTER 2]

What are the causes of neonatal jaundice? Indirect hyperbilirubinemia Direct hyperbilirubinemia (Direct serum bilirubin < 15%) (Direct serum bilirubin = 15%)  Physiologic jaundice  Congenital infections  Breast milk jaundice*  Sepsis  Blood group incompatibilities  Neonatal hepatitis*  Urinary tract infection*  Biliary atresia*  Internal hemorrhage  Choledochal cyst*  Infants of diabetic mother  Inspissated bile syndrome*  G6PD deficiency  Galactosemia*  Hereditary spherocytosis  1 α antitrypsin deficiency*  Cretinism*  Alagille syndrome*  Pyloric stenosis  Zellweger syndrome*  Drugs: e.g. novobiocin, vitamin K  Crigler-Najjar syndrome*  Lucey-Driscoll syndrome * prolonged jaundice, i.e. >10 days in term and >2 weeks in preterm infants

What is the physiology of elevated bilirubin? Unconjugated (indirect) hyperbilirubinemia Conjugated (direct) hyperbilirubinemia is secondary to increased production of is caused by hepatobiliary dysfunction bilirubin (e.g., excess RBC destruction), or extrahepatic biliary obstruction. decreased hepatic conjugation of bilirubin, (always pathological) increased absorption of bilirubin from the intestine (enterohepatic circulation), or decreased hepatic uptake of bilirubin.

What are the complications of hyperbilirubinemia? Persistent and pathologic elevation of bilirubin in the newborn may cause an excess of free bilirubin (unconjugated bilirubin not bound to albumin or other serum proteins). This potential neuro-toxin may cause kernicterus, an often irreversible phenomenon characterized by alteration of neurobehavioral status and injury to the brain. Long-term sequelae of kernicterus may include deafness, cerebral palsy, or death.

What are the Investigations? Hemolytic work-up Also consider Imaging studies

 Serum bilirubin: conjugated  Septic work-up if clinically  consider abdominal and unconjugated indicated Ultrasound if conjugated  CBC (mainly for Hb and Hct  G6PD (Glucose-6-Phosphate hyperbilirubinemia but also WBC as a non-specific Dehydrogenase) screen marker of infection) (especially if male and of Asian or  Peripheral blood smear (for Middle Eastern ethnicity) RBC morphology)  Other red cell enzyme studies if  Maternal blood group and Rh hemolysis remains undefined status  Liver enzymes (AST, ALT, GGT, Alk  Infant blood group and Rh Phos) and liver function tests (PT, status PTT, albumin, ammonia) if  Coomb’s test conjugated hyperbilirubinemia

26 Neonatology [CHAPTER 2]

What is the treatment? Unconjugated hyperbilirubinemia Conjugated hyperbilirubinemia Prophylactic or therapeutic phototherapy. Treat the underlying liver disease or other IVIg may be useful for infants with Rh or ABO disease process. incompatibility and. Infants at high risk of kernicterus may need exchange transfusions of whole blood. - The goal is to prevent kernicterus. Breast feeding does not need to be discontinued. - The underlying cause should be treated if possible (i.e. correct dehydration, treat sepsis).

NEONATAL CYANOSIS

What is it? Bluish tint of the skin: reflects the presence of 3–5 g/dL of reduced Hgb in the blood

What must the O2 saturation be for an infant with polycythemia to demonstrate cyanosis? <88%

An anemic infant? <70%

List 5 common causes of cyanosis. - Primary lung disease, poor cardiac output, congenital cyanotic heart disease, pulmonary hypertension in the newborn, methemoglobinemia - Many healthy newborn infants may have cyanosis of the extremities (acrocyanosis) with a normal pink color centrally, as a result of cooling, immature regulation of skin blood flow, or both.

Why are prenatal and perinatal histories important? Intrauterine or birth-related complications may indicate sepsis, asphyxia, or pulmonary insult as causes of cyanosis

List 3 significant findings on clinical examination. Heart murmurs, absent distal pulses, respiratory distress

Why is a chest radiograph important? (List 2 reasons.) 1. Evaluation of the lung fields for evidence of primary lung disease 2. Evaluation of cardiac size and shape for evidence of congenital heart disease

What are the 2 significant findings for ABG? 1. PaO2 level >60 mm Hg on room air virtually excludes cyanotic heart disease. 2. Failure to demonstrate a rise of PaO2 >100 mm Hg in response to oxygen suggests a cardiac rather than pulmonary etiologic factor.

What is the significance of chocolate-colored blood? It may indicate methemoglobinemia

What condition may cause a 5–10% difference in O2 saturation between the arms and legs? Pulmonary hypertension

27 Neonatology [CHAPTER 2]

Why? Pulmonary hypertension may cause right-to-left shunting through a PDA. Blood supply to the right arm is preductal and to the legs is postductal.

What is the treatment for cyanosis? Treat the underlying disease. Oxygen and ventilatory support may be required for primary lung disease. Antibiotics are important in fighting infection. Nitric oxide or ECMO therapy, or both, may be needed for refractory pulmonary disease, sepsis, and persistent pulmonary hypertension. Prostaglandin E1 infusion may improve oxygenation in the infant with cyanotic heart disease or perfusion in the infant with left-sided obstructive lesions.

NEONATAL RESPIRATORY DISTRESS

What is the most common reason for admitting a newborn to a level II or III neonatal intensive care unit? Respiratory distress

List 4 features of respiratory distress. Tachypnea (i.e., >60 breaths/min in any infant); use of accessory muscles of respiration (e.g., nasal flaring, intercostals retractions, grunting); hypoxia; hypercapnia

What is the most common cause of neonatal respiratory distress? Primary lung disease

List 3 types of restrictive (poor lung compliance) conditions. Pneumonia, surfactant deficiency, malformation of the lung or chest wall

Give an example of a type of obstructive (normal compliance) condition. Aspiration syndromes, for example, aspiration of blood, amniotic fluid, meconium or gastric contents

List 12 other common causes of respiratory distress. CNS injury, obstruction of upper airway by nasopharyngeal tissues (as in choanal stenosis or atresia) or the tongue (as in severe micrognathia or macroglossia), primary malformations of lung tissue, pulmonary edema; retained fetal lung fluid after precipitous vaginal delivery or cesarean section, pleural effusion; severe abdominal distension, diaphragmatic hernia, hypoplastic lungs (caused by renal dysfunction or other causes of oligohydramnios), infection, polycythemia, TTN

List 6 important factors in evaluation. Clinical history and examination, chest radiograph, ABG, Hct, assessment for cardiac disease, evaluation for sepsis

NEONATAL HYPOTONIA

What is the normal resting position for a newborn? Elbows and knees flexed; hands most often in the fisted position

For a premature newborn? Flexed and fisted less frequently

28 Neonatology [CHAPTER 2]

List 5 characteristics of hypotonia. 1. Extension of extremities 2. Open hands 3. Occasionally exaggerated “frog-leg” position when supine 4. Child not withdrawing into flexion with noxious stimuli 5. Diminished primitive reflexes because of poor truncal tone

What causes hypotonia? Conditions that are genetic or acquired in the intrauterine environment or during the birth process. May be systemic or primarily neuromuscular. Neuromuscular conditions may be at any level: cerebral cortex to peripheral nerve to neuromuscular junction to muscle.

List 4 causes of hypotonia without a primary neuromuscular etiology. Maternal disease or medication; sepsis; severe cardiorespiratory disease; hypoglycemia

List 6 causes of hypotonia due to CNS or neuromuscular pathology. 1. Hypoxic ischemic encephalopathy 2. Abnormal cortical development: for example, Prader-Willi, Trisomy 21 3. Spinal cord injury 4. Anterior horn cell degeneration (e.g., infantile spinal muscular atrophy) 5. Variants of congenital myasthenia gravis 6. Myotonic dystrophy and other muscular dystrophies

Why is family history important? Because of possible genetic etiologic factors. In addition, infants with congenital myotonic dystrophy may show no clinical or electrical signs of myotonia; however, often the mother will

List 5 important laboratory studies. Blood chemistries, sepsis evaluation, acid-base status, plasma ammonia concentration, CPK level

What imaging studies are helpful? Cranial and spinal MRI or CT

Why are the electroencephalogram and electromyogram important? They can help rule out seizures and abnormalities of skeletal muscle innervation.

What is another important test? Muscle biopsy

What consultants are commonly needed? Neurologists and genetic consultants provide workups of specific congenital metabolic disorders

What is the prognosis? The outcome depends on the specific disease present; genetic counseling may be helpful in certain cases

29 Cardiovascular system [CHAPTER 3]

Chapter 3

CARDIOVASCULAR SYSTEM

History of common Important topics: symptoms: Congestive heart failure Chest pain (CHF) Dyspnea Syncope

Cardiovascular examination

30 Cardiovascular system [CHAPTER 3]

History of common symptoms

Chest pain:  Duration  Location  Mode of onset: sudden or gradual  Character (squeezing, sharp, dull)  Pattern: constant or progressive  Frequency  Radiation  Course: continues or intermittent  Severity  Aggravating and relieving factors (inspiration, exertion, eating …)  Associated symptoms (weight loss, fever, cough, dyspnea, vomiting, heartburn …)

Cardiac vs. MSK type pain:

Cardiac type pain MSK type pain  Pain comes on during exercise, relieved  History of recent weight lifting or sports by rest activity  Crushing, diffuse and unrelenting  Sharp and may radiate  Associated with diaphoresis, nausea,  ↑ Pain with certain activities or positions dyspnea, syncope  Worse with deep inspiration  Heart pounding with abrupt onset/offset  Hx. of respiratory illness with ++coughing (tachyarrhythmia) (Costrochondritis)  Reproducible with palpation

Differential Diagnosis:

Non Cardiac Causes Cardiac Causes  Idiopathic  Structural (anomalous origin,  Musculoskeletal (chest wall strain, hypertrophic cardiomyopathy, aortic trauma, costochondritis, precordial catch stenosis, mitral valve prolapse) syndrome, slipping rib syndrome)  Inflammatory (pericarditis, myocarditis)  Psychogenic  Dysrhythmias (SVT, VT)  Respiratory (asthma, pneumonia,  Acquired (hyperlipidemia/early coronary pneumothorax, pneumomediastinum) artery disease, Kawasaki disease)  Gastrointestinal (GERD, esophagitis,  Other (vasospasm, connective tissue gastritis) disorders)  Miscellaneous (breast mass, sickle cell disease, tumor, herpes zoster)

31 Cardiovascular system [CHAPTER 3]

Investigations: 1. Physical exam o A complete general physical & precordium exams with vitals (including BP) 2. Laboratory investigations o Chest x-ray: helpful if suspect rib fractures, pneumonia, pneumothorax, cardiac anomalies o Electrolyte, CBC o Echocardiogram: helpful to detect structural cardiac anomalies 3. ECG o Useful in detecting ischemic heart disease

Dyspnea (cardiac dyspnea):  Onset (gradual or sudden)  Duration  Progression  Aggravating and relieving factors  Associated symptoms (chest pain, cough, fever …)  Association with orthopnea or PND o Orthopnea: - dyspnea on lying down - severity reflected by the number of pillows been used o Paroxysmal nocturnal dyspnea (PDN): - sever dyspnea that wakes up the patient from sleep gasping for air  severity: NYHA Classification:  class I : only on heavy exertion  class II : on moderate exertion (more than usual activity)  class III : on minimal exertion (at usual activity)  class IV : at rest

Cardiac vs. Respiratory type dyspnea:

Favours heart disease Favours lung disease Hx. Of myocardial infarction Hx. Of exposure to smoking No wheeze wheezing PND PND absent orthopnea Orthopnea absent Early and mid-inspiratory crackles Fine end-inspiratory crackles Cough only on lying down Productive cough Abnormal apex beat Over expanded chest 3rd heart sound Pursed-lips breathing Mitral regurgitation

Laboratory Evaluation: - O2 saturation - Chest x-ray (cardiomegaly, effusions, pulmonary edema).

Differential Diagnosis: Heart failure, foreign body aspiration, pneumonia, asthma, pneumothorax, hyperventilation

32 Cardiovascular system [CHAPTER 3]

Syncope: (Defined as a sudden, brief loss of consciousness associated with loss of postural tone from which there is spontaneous recovery)  When & why?  Precipitating events: e.g. during physical activity or long period of standing  Frequency  Any triggers or stressors?  Symptoms preceding the attack (palpation, chest, dizziness)  The duration of the attack  Associated symptoms (dizziness, visual changes, nausea)

Common conditions of syncope:

- Vasovagal syncope: is by far the most common cause of syncope among children. It typically involves a precipitating event and a prodrome. Precipitating events can include standing or stress (physical or emotional) and even swallowing, hair grooming and micturition. - Breath holding spells: are most common in children aged 6 to 24 months. The cause is usually due to an emotional insult such as pain, anger or fear and the child may be cyanotic or pallid. If it is cyanotic, the breath holding begins and cyanosis develops and to loss of consciousness follows. If it is pallid spell, loss of consciousness will occur before breath holding. Breath holding spells usually follow a benign course and are expected to stop by the age of 5. The child may develop vasovagal syncope at a later age. - Orthostatic hypotension: occurs when there is a sudden reduction in blood pressure greater than 20/10 mm Hg as a result of postural change such as moving quickly from sitting to standing. . - Toxic exposure: Exposure to toxins can result in decreased cardiac output or loss of consciousness caused by numerous toxins such as barbiturates, tricyclic antidepressants, and phenothiazines.

Differential Diagnosis:

Seizures Seizures will sustain for longer than syncopic episodes and involve aura, prolonged tonic clonic activity Migraine syndromes Loss of consciousness here is longer. Neurologic symptoms, headaches and nausea. Hysteria/conversion disorder Noticed in the presence of an audience, this condition lacks hemodynamic or autonomic changes that can be prolonged however rarely result in injury. Mainly occurs in adolescents. Hyperventilation Correlated with emotional stress, individuals experience chest pain, chest tightness and shortness of breath Choking will experience a euphoric state caused by cerebral hypoxia, Can ultimately lead to death

33 Cardiovascular system [CHAPTER 3]

Cardiovascular examination

General comments:  Ill looking or well  Peripheral or central cyanosis (is seen in the tongue), pallor  Signs of respiratory distress (tachypnoea, use of accessory muscles of respiration)  General health (failure to thrive or well nourished)  Dysmorphic features (are these features fitting to a known syndrome)

Hands:  Nails for clubbing and splinter hemorrhage  Palmer creases for pallor  Look for other signs: tuberous and tendon xanthoma over bony prominence, Osler's nodes at palmer surface

Arterial pulse:  Check that  both brachial pulses are present and equal in volume  Check for femoral pulses (decreased or absent, suggest aortic coarctation)  Check for rate (for at least 30 seconds)  Check for rhythm (regular or irregular)  Check for volume (large volume suggest Patent Ductus Arteriosus, aortic regurgitation)  Check for character (collapsing pulse, slow rising pulse, pulsus paradoxus, pulsus alternans)

Blood pressure:  For children is measured by sphygmomanometer  For infant is measured by Doppler ultrasound, from all limbs

 Check for edema in the lower limbs and sacral region

Examination of pericardium:

Inspection:  Asymmetry: bulge of left chest due to cardiomegaly  Other deformities: pectus excavatum, pectus carinatum and Harrison sulcus  Scars: median sternotomy scar, left & right anterolateral scars  Visible pulsation e.g. pulsation at neck in aortic regurgitation, apex beat  Assessment of jugular venous pressure (JVP) in older children with heart failure

34 Cardiovascular system [CHAPTER 3]

Palpation:  Apex beat: palpable cardiac impulse at the outer most and lower most position, is located normally at 4th intercostals space in the mid-clavicular line Localize the site properly and comment on quality (heaving or tapping)  Parasternal heave: feel over the left parasternal area with the heel of hand for parasternal heave, which indicates right ventricular hypertrophy  Thrills (palpable murmur): localize the site by palpating all areas including suprasternal notch left subclavicular region and neck. The accompanying murmur is by definition at least 4/6 in intensity  Palpable 2nd heart sound: over pulmonary area, this will be the pulmonary component and reflects pulmonary hypertension  Palpate the abdomen at the end of palpation the precordium for:  The liver  The spleen, if you suspect infective endocarditis by other signs

Auscultation:  Use both bell & diaphragm, the bell for low pitched sound (diastolic murmur at the apex & heart sound)  Palpate right brachial artery with your left hand during auscultation, this will help you to time the murmurs

Follow this order:

 Apex (mitral area): if there is murmur check for radiation to left axilla  4th, 5th intercostals space at left sternal edge (tricuspid area)  2nd intercostals space at left sternal edge (pulmonary area)  2nd intercostals space at right sternal edge (aortic area), if there is systolic murmur listen over the carotid for radiation of the murmur  Left subclavicular area for patent ductus arteriosus (PDA) murmur  Listen at the 4th intercostals space mid-clavicular line on right side to exclude dextrocardia  Listen at the back between scapulae for the murmur of coarctation of aorta and below left scapula for PDA murmur  If you are suspecting innocent murmur or mitral valve prolapsed, listen to the murmur both on sitting as well as supine position  For older child listen again along left sternal edge at the level of 3rd and 4th intercostal space as his breaths out and leans forward for murmur of aortic regurgitation. The murmur of mitral stenosis is heard more clearly if child lies in supine position and turns towards left

Listen for the following:

1. Normal heart sounds: o 1st heart sound for intensity (best at apex) o 2nd heart sound (best at pulmonary area) for intensity and splitting 2. Add sounds (all best heard at apex with the bell of stethoscope except ejection click) o 3rd heart sound can be normal finding in children, hear early in diastole o 4th heart sound heard late in diastole o Opening snap after 2nd heart sound in mitral stenosis o Click: midsystolic in mitral valve prolapsed at apex, early systolic in aortic and pulmonary valve stenosis best heard at mid left sternal border and at the corresponding areas

35 Cardiovascular system [CHAPTER 3]

Important topics

CONGESTIVE HEART FAILURE (CHF)

What is congestive heart failure? A syndrome of decreased systemic cardiac output which the heart fails to meet the metabolic and circulatory demands of the body, this term may be used in patients with severe left ventricular dysfunction due to a dilated cardiomyopathy, and also for infants with a large VSD, a large left-to-right shunt, and excessive pulmonary blood flow but normal left ventricular systolic function

What are the signs and symptoms of CHF? - Breathlessness (particularly on feeding - Poor weight gain or "faltering growth" or exertion) - Heart murmur, gallop rhythm - Sweating - Enlarged heart - Poor feeding - Hepatomegaly - Recurrent chest infections - Cool peripheries - Tachypnoea - Signs of right heart failure (ankle - Tachycardia oedema, sacral oedema and ascites)

What are the questions you have to ask in history?

- Infants: (asking the parents)  How are they feeding? Does the baby “tire out”, or have to rest in the middle of feeding? Does the baby change color during feeds?  Is the baby growing?  Any episodes of blueness around the lips or face?

- Children  Do you feel short of breath when exercising? Can you keep up with other children? Can you run or play as much as before?  Do you feel short of breath when lying down?  Do your hands and/or feet feel constantly cold?  Do you often feel sweaty?  To parents: Have you noticed a change in their activity level? Are they keeping up with other kids? Any episodes of blueness? Noticed any facial puffiness? (facial edema) Do they seem tired?

36 Cardiovascular system [CHAPTER 3]

What are the causes of CHF? 1. Neonates – obstructed (duct-dependent) systemic circulation:  Hypoplastic left heart syndrome  Critical aortic valve stenosis  Severe coarctation of the aorta  Interruption of the aortic arch 2. Infants (high pulmonary blood flow)  Ventricular septal defect  Atrioventricular septal defect  Large persistent ductus arteriosus 3. Older children and adolescents (right or left heart failure)  Eisenmenger syndrome (right heart failure only)  Rheumatic heart disease  cardiomyopathy

What is included in the Investigations? - Chest X-ray: The shape of the cardiac silhouette may gives clues to certain structural heart diseases - Electrocardiogram: usually abnormal, and although not useful in assessing HF - Urine test: In chronic heart failure, proteinuria and high specific gravity of urine are common. - Blood test: An increase in blood urea nitrogen and creatinine levels may be present, as renal function decreased due to decreased perfusion. . - Echocardiogram: Invaluable in ruling out structural heart disease and evaluating cardiac function, including atrial and ventricular size, systolic and diastolic function, - Endomyocardial biopsy: for evaluation of myocarditis - Thyroid, Renal and Hepatic function tests

What are the goals of management? The management of congestive heart failure (CHF) is difficult and sometimes dangerous without knowledge of the underlying cause. Consequently, the first priority is acquiring a good understanding of the etiology. The goals of medical therapy for congestive heart failure include the following: - Reducing the preload - Enhancing cardiac contractility - Reducing the afterload - Improving oxygen delivery - Enhancing nutrition

37 Respiratory system [CHAPTER 4]

Chapter 4

RESPIRATORY SYSTEM

History of common Important topics: symptoms: Asthma Cough Pneumonia Dyspnea Bronchiolitis Sputum Croup Hemoptysis Pneumothorax Chest pain Cystic fibrosis Hoarseness Fever

Respiratory examination

38 Respiratory system [CHAPTER 4]

History of common symptoms

Cough:  Duration: acute or chronic  Character: barking  Severity: interfere with sleeping, feeding & speaking  Timing: more at night, seasonal (asthma)  Dry or productive: dry in pleurisy, productive in pneumonia o notice the character of sputum: o nature: purulent, mucoid, frothy o quantity: scanty or copious o color: blood stained (pneumonia, mitral stenosis), greenish (cystic fibrosis), yellowish (pneumonia) o smell: fetid (lung abscess, cystic fibrosis, bronchiectasis)  Painful cough: lesion related to the pleura or ribs  Aggravating & reliving factors: dust, smoking …  Association symptoms: shortness of breath, vomiting , fevers

Differential diagnosis

Duration Common Etiologies Acute cough (<2 weeks) - Laryngotracheobronchitis – barking cough - Staccato – Chlamydia (infant) - Paroxysmal – pertussis and para-pertussis - Psychogenic – honking cough - Acute upper / lower respiratory tract infection (ARI) - Foreign body aspiration - Asthma - Inhalation injury (acute exposure to smoke or volatile substances) Subacute cough (2-4 weeks) - Post viral cough - Acute bronchitis Chronic cough (> 4 weeks) - Post viral - Increased cough receptor sensitivity - Asthma - Gastroesophageal reflux - Upper airway problems - Subacute bronchitis - Bronchiectasis or recurrent pneumonia: o Cystic fibrosis o Ciliary dyskinesia o Congenital lung lesions - Aspiration - Chronic infections: o Tuberculosis o Mycoses - Interstitial lung disease (i.e. Rheumatic diseases) - Cardiac

39 Respiratory system [CHAPTER 4]

Investigations

 Chest X-ray: can provide you with additional information, such as infiltrations/ consolidations, hyperinflation …  Pulmonary Function Test: Can help delineate obstructive vs. restrictive lung disease  Bronchoscopy: Useful if suspicion for foreign body is high  Mantoux Testing (Tuberculin Skin Test): To screen for tuberculosis infection

Dyspnea (shortness of breath):

 Duration  Onset: o Acute: pneumonia o Worsen progressively: pulmonary fibrosis o With sharp chest pain: pneumothorax o Varies from day to day: asthma  Progression  Aggravating and relieving factors  Associated symptoms (chest pain, cough, fever …) or with orthopnea or PND (cardiac cause)  severity: NYHA Classification (see page 32 )

Differential diagnosis: (based on time course of onset)

Seconds to minutes Hours or day Weeks or longer - asthma - exacerbation of COPD - pulmonary fibrosis - pulmonary embolism - cardiac failure - COPD - pneumothorax - asthma - Pleural effusion - pulmonary edema - respiratory infection - Anemia - anaphylaxis - pleural effusion - foreign body inhalation - metabolic acidosis

Laboratory Evaluation: - CBC - ABG - electrolytes, BUN, Cr - CXR - cultures (blood, urine, sputum) - EKG - swabs (throat, NPW)

Sputum:  Amount (spoon per day)  Color: o Purulent: bronchiectasis, pneumonia o Dark: abscess o Pink frothy: pulmonary edema  Foul smell: abscess, bronchiectasis  Diurnal variation:  Increased in the morning: bronchiectasis

40 Respiratory system [CHAPTER 4]

Hemoptysis (coughing up of blood):  Duration  Amount  Smell  Fresh or old  Clots or streaks  With or without mucus  Frequency

Chest pain:  Analyze it as a pain (see page ).

Hoarseness:  Age and time of onset  duration of symptoms  rate of onset  Associated symptoms: (respiratory distress. Fever, hemangiomas, sore throat)  prolonged loud crying or screaming (vocal cord polyps or nodules)  Trauma , previous surgery, Intubation (subglottic stenosis)  Prior episodes of croup, upper respiratory tract infections, Neurologic disorders  Exacerbating or relieving factors.

Differential Diagnosis of Hoarseness: Neonatal Older Child o Laryngomalacia o Postnasal drip o Webs o Epiglottitis o Subglottic stenosis o Recurrent voice abuse (cord o Cystic lesions polyps, nodules) o Excessive secretions (fistulas, o Sicca syndromes gastroesophageal reflux) o Neoplasia (papilloma, hemangioma) o Vascular tumors (hemangioma, o Trauma (postsurgical, intubation) lymphangioma) o Gaucher disease, o Cri du chat syndrome mucopolysaccharidosis o Vocal cord paralysis o Williams syndrome, Cornelia de o Vocal cord trauma Lange syndrome o Hypothyroidism, hypocalcemia, o Conversion reaction Farber disease o Viral infection (laryngitis, croup)

41 Respiratory system [CHAPTER 4]

Fever:  Onset.  Duration.  Continues, remittent, or intermittently.  Diurnal pattern.  Changes in severity.  Progression over time.  Measured or not if yes: route and readings.  Associated symptoms: o Cough, sputum, sore throat, headache, abdominal pain, ear pain, neck stiffness, dysuria, vomiting, rash, night sweats, diarrhea, bone or joint pain o Chill: sensation of cold. o Rigors: uncontrolled shivering occurs when a patient's temperature rises rapidly.  Management: what was done to lower it?

Differential Diagnosis of Fever: Infectious Disease (50% of diagnoses) Collagen/Connective Tissue Disorders Localized Infection Juvenile rheumatoid arthritis  Respiratory tract Kawasaki syndrome o Upper–rhinitis, pharyngitis, sinusitis Systemic lupus o Lower--pneumonia, bronchitis, Rheumatic fever bronchiectasis, foreign body Other: Vasculitis syndromes, Behçet's disease, mixed connective tissue disease  Urinary tract infection

 Osteomyelitis  Meningitis, encephalitis Periodic Fever  Abdominal abscess, appendicitis Recurrent viral infections Generalized Infection Cyclic neutropenia, familial Mediterranean fever  Common--Epstein-Barr virus, enteric (serositis, arthritis), “pharyngitis with infection (Salmonella, Yersinia species), aphthous stomatitis” (Marshall syndrome), Borrelia catscratch disease, tuberculosis, hepatitis, infection, familial dysautonomia Pseudo-fever of Unknown Origin: Prolonged low- cytomegalovirus grade fevers without findings on examination,  Unusual--tularemia, brucellosis, multiple vague complaints, normal laboratory tests leptospirosis, Q fever, Lyme disease, syphilis, toxoplasmosis Neoplasia Lymphoreticular malignancies Sarcomas Inflammatory Bowel Disease (Crohn's disease)

Laboratory Evaluation of Fever: Complete blood count, including : Serum lactate o leukocyte differential and platelet count Cultures with antibiotic sensitivities Electrolytes o Blood Arterial blood gases o Urine Blood urea nitrogen and creatinine o Wound Urinalysis o Sputum, drains INR, partial thromboplastin time, fibrinogen Chest x-ray, Computed tomography, magnetic resonance, imaging, abdominal X-ray

42 Respiratory system [CHAPTER 4]

Respiratory examination

General evaluation:

 General appearance: well or ill  Speech ability (reading Qur'an, looking counting 1-10 in one breath)  Color (pallor, cyanosis)  Grunting  Tachypnea (respiratory rate >  Stridor expected for age)  Snoring  Audible wheeze  Note the presence of: oxygen supply  Built and nutrition & delivery systems (nebulizer  State of alertness apparatus, spacer device, inhaler devices) sputum pot Ex. Of upper limbs:  Clubbing  Peripheral cyanosis  Pulse: "count apex beat in children below the age of 3 years  Blood pressure: pulsus paradoxus (> 10 mm Hg fall of systolic blood pressure during inspiration) e.g. severe asthma, constrictive pericarditis

Ex. Of the face:  Lips: peripheral cyanosis  Tongue: central cyanosis

Ex. Of ENT: "keep it for the last" - Throat:  Use a good source of light & a strong wooden spatula  Don't miss a spontaneous gag to have a clear view of the throat  Don't over-interpret tonsillar enlargement in a gagging child - Ears:  Use proper size speculum  Gently pull the auricle upward, backward & laterally to make the external auditory canal straight to have a better view of the tympanic membrane. Note: presence of wax or foreign body  Examine the tympanic membrane for: light reflex, color, bulging or retracted, perforation, discharge and mobility - Nose:  Use large size speculum and the usual otoscope (if indicated)& look for:  Foreign body  Bleed  Foul smell  Color of nasal mucosa  Turbinate hypertrophy  Presence of discharge & it's character  polyps  Edema of the nasal mucosa (allergy)

43 Respiratory system [CHAPTER 4]

Examination of the chest: (examine both front and back of the chest, start from the front)

Inspection: - Respiratory rate (minimum 30 seconds) - Expose the chest fully and look for:  Type of breathing:  Abdominal in infants  Thoracic after 4-5 years of age  Flat abdomen with reduced movements indicates diaphragmatic hernia  Use of accessory muscles: suprasternal, intercostal & subcostal retractions  Apex pulsation  Scars  Shape of the chest:  Pectus Excavatum  Pectus Carinatum  Barrel shaped  Harrison sulcus  Chest wall asymmetry & unequal chest movement  Shield-shaped from chest: Turner's syndrome  Flattening of the hemi-chest, absence of pectorallis muscle i.e., Poland anomaly  Others: Rachitic rosary, absent clavicle in cleidocranial dysplasia, supernumerary nipple in renal anomaly

Palpation (proceed gently with warm hands) note:  Obvious swelling and tenderness  Position of trachea  Position of the apex beat  Tactile vocal fremitus: place the palm of the hand on either side of the upper chest & ask the child to say 99, feel the difference between sides rather than absolute increase or decrease  Chest expansion: hook little fingers of both hands in the axillae with thumbs meeting in the mid line. Ask the child to take a deep breath & observe which thump moves the least

Percussion: 1. Perform very gently 2. Explain to the older patients and the attendants 3. Use: A. Pleximeter finger: placed in an intercostal space flush with the chest wall, other fingers kept away from touching the chest wall B. Percussing finger (plexor): middle finger of the dominant hand. Finger should pivot at wrist & not at the elbow, with a gentle blow hitting perpendicularly to pleximeter finger 4. Percuss at: - (Corresponding points) from up to down, mid-clavicular lines & mid-axillary. Note:  Apices: percuss on the clavicle directly  Area of the liver dullness  Area of cardiac dullness  Character of resonance: (normal, increased, reduced, absent, stony dullness)

44 Respiratory system [CHAPTER 4]

Auscultation: 1. Use a child size stethoscope 2. Be sure that the chest piece is adequately warm 3. Use either the bell or diaphragm 4. Apply the chest piece firmly to the chest wall to avoided rubbing noises 5. Auscultate the corresponding points in both sides. Note:  Character of air entry: - Normal - Reduced - Equality on both sides  Character of breath sounds: - Vesicular - Bronchial - Ronchi - Inspiration prolonged - Expiration prolonged  Presence of added sounds: - Wheezes: continuous, uninterrupted, musical sound  On inspiratory phase e.g. croup  On expiratory phase e.g. asthma - Crackle: discontinuous, interrupted sounds like popping of bubble which may be:  Coarse i.e. friction rub  Medium  Fine crepitation may also be: o Early inspiratory i.e. in obstructive airway disease o Late inspiratory i.e. in restrictive airway disease  Vocal resonance: - As in the tactile vocal fremitus but use chest piece instead of hands. - It may be: increased, reduced, absent  Transmitted sounds: - May confuse the added sounds, may be disappear by: - Cough - Suction - Physiotherapy - Prior hearing of throaty sounds by naked ear - Putting the stethoscope by the neck, added sounds increased in intensity

Ex. Of the back of the chest: - If possible make the child seat & place his hands on his head, then follow the sequence of:  Inspection: look for o Scoliosis and kyphosis o Scars o Position of the scapula: one scapula is higher in sprengel's syndrome  Palpation: look for o Chest expansion o Tactile vocal fremitus  Auscultation: o As in the front of the chest

Chest disorders Chest movement Percussion Auscultation Bronchiolitis Laboured breathing Hyper-resonant Fine crackles in all zones Hyperinflated chest Wheezes may not be present Chest recession Pneumonia Reduced on affected side Dull Bronchial breathing Crackles Rapid, shallow breaths Asthma Reduced but hyperinflated Hyper-resonant Wheeze Use of accessory muscles Chest wall retraction

45 Respiratory system [CHAPTER 4]

Important topics

ASTHMA

What is the definition of asthma? A chronic disease of the airways characterized by intermittent respiratory symptoms and persistent inflammation. These symptoms are secondary to narrowing of the large and small airways from inflammation and smooth muscle spasm. The inflammation also causes airway hyperresponsiveness to a variety of stimuli.

What are the risk factors for developing asthma? Family history, atopy (eczema, allergic rhinitis), smoking in the family, male sex. There are likely other environmental exposures including early-life viral infections and airborne pollutants, which modify or even cause asthma in childhood.

List triggers that evoke asthma symptoms: Viral infections (primarily human rhinovirus), allergens (dust mites, mold, dander, pollen, cockroaches), irritants (smoke, pollution, fumes, odors), cold air, Exercise

What are the symptoms of asthma? Daytime and nighttime coughing, wheezing, chest tightness, dyspnea, tachypnea, exercise intolerance

What are the physical examination findings during an asthma exacerbation? End-expiratory wheezing, inspiratory and expiratory wheezing (severe), increased work of breathing with use of accessory muscles, increased inspiratory to expiratory ratio (e.g., 1:3), pulsus paradoxus (reduction of systolic BP by 10 mm Hg during inspiration), tachycardia, absent breath sounds with cyanosis (severe), impaired sensorium

List 4 typical findings on chest radiograph: 1. Lung hyperinflation with flattening of the diaphragms 2. Increased AP diameter 3. Increased perihilar markings owing to inflammation 4. Atelectasis

What is the differential diagnosis of wheezing? Infant older child  Vascular ring  Asthma  Tracheoesophageal fistula  Aspiration (reflux, foreign body)  Gastroesophageal reflux  Epiglottitis  Asthma  Laryngotracheobronchitis (croup)  Viral infection (bronchiolitis, upper  Cystic fibrosis  respiratory tract infection)  Hypersensitivity pneumonitis  Pertussis  Tuberculosis  Cystic fibrosis  Tumor  Bronchopulmonary dysplasia  Alpha1-antitrypsin deficiency  Congenital heart disease  Vocal cord dysfunction

46 Respiratory system [CHAPTER 4]

How is asthma severity categorized?

What are the 5 asthma treatment goals? 1. Prevent symptoms 2. Maintain normal activity levels 3. Prevent recurrent exacerbations 4. Minimize the use of _2-adrenergic agonists to _1 time per day 5. Avoid adverse effects from medication

What is the treatment for asthma?

47 Respiratory system [CHAPTER 4]

Why is using a spacer with an MDI (metered-dose inhaler) important? It allows for better administration of medication to the airways instead of being deposited on the mouth or tongue.

What is the treatment of an acute asthma exacerbation?

48 Respiratory system [CHAPTER 4]

PNEUMONIA

What is it? - An inflammatory (pneumonitis) or infectious (pneumonia) process involving the distal airspace. The term is also applied to processes involving the lung interstitium (“interstitial” pneumonia or pneumonitis). - It should be distinguished from processes involving the trachea (tracheitis), bronchi (bronchitis), and distal airways (bronchiolitis).

What are some common signs and symptoms? - They vary with age and etiologic organism: Commonly: cough, fever, and chills, but child may also have chest pain, vomiting, diarrhea, or abdominal pain (can mimic gallbladder disease or appendicitis!) - On physical examination: tachypnea, evidence of increased work of breathing (e.g., nasal flaring, retractions)

What do percussion, auscultation, and oximetry show? - Percussion may demonstrate an area of dullness, either from consolidation or associated pleural effusion. - Auscultation may reveal areas of decreased breath sounds and inspiratory crackles or rales. However, auscultation may reveal normal breath sounds, especially in small infants. - Oximetry usually reveals mild to severe oxygen desaturation, depending on the severity of the process.

List 4 ways to determine the etiologic agent. - By blood or sputum culture, although in mild cases, in an otherwise healthy child, this is probably unnecessary. - Identification is more urgent in the immunocompromised child, thus bronchoscopy or biopsy for diagnosis may be warranted.

What are the etiologic agents? - Viral and bacterial pathogens and other agents such as fungi. They vary with the child’s age and immune status. In all groups, however, viral pathogens are most common. - Geography or exposure may dictate consideration of agents such as fungi (coccidiomycosis, blastomycosis or histoplasmosis) or Mycobacterium tuberculosis - . If aspiration pneumonia is a possibility, anaerobes should be considered.

What is the most common viral pathogen? - RSV (respiratory syncytial virus)

List the typical bacterial pathogens in the following age groups:

Newborns Group B streptococcus; gram-negative bacilli; Chlamydia 1 month–6 years Streptococcus pneumoniae; Haemophilus influenzae (H. influenzae is becoming less common with increasing use of vaccine.) Children older than Mycoplasma species; Streptococcus pyogenes; Staphylococcus 6 years and adolescents aureus; S. pneumoniae

49 Respiratory system [CHAPTER 4]

List 2 components of treatment for most children. - Most otherwise healthy children can be treated as outpatients with: 1. Oral antibiotics (e.g., amoxicillinclavulanate, erythromycin, cephalosporin) 2. Antipyretics Generally, cough suppressants are avoided, but they may be acceptable at bedtime to facilitate sleep.

For severely ill children? - Severely ill children (i.e., those with high fever, dehydration, intractable cough and hypoxemia) may need to be admitted to a hospital for IV antibiotics and supportive therapy (e.g., IV fluids, oxygen and chest physiotherapy). - Any immunocompromised child should be hospitalized.

List 5 complications. - Pleural effusion, empyema, pulmonary abscess, respiratory failure, bronchiectasis (more common with recurrent episodes but may occur acutely and be reversible)

BRONCHIOLITIS

What is it? Is the commonest serious respiratory infection of infancy: 90% are aged 1-9 months.

What is the most common viral pathogen? - RSV (respiratory syncytial virus)

What other etiologic agents? Human metapneumovirus, parainfluenza virus, rhinovirus, adeno Virus, influenza virus and mycoplasma pneumonia

What are the clinical features?

What investigations could be used? Pulse oximetry, Blood gas analysis, chest X ray, PCR

What is the management? It's supportive. Humidified oxygen, antibiotics, steroid & nebulised bronchodilators. Fluids may need, good hand hygiene are needed to prevent cross-infection to others infants in hospital

50 Respiratory system [CHAPTER 4]

CROUP

What is croup? Viral infection of the upper and lower respiratory tract that causes subglottic inflammation (also called “laryngotracheobronchitis”)

What are the 2 classic features of croup? Stridor (a high-pitched sound heard on inspiration) and barking cough

What is the usual age at presentation? 3 months to 3 years of age; peak incidence at 2 years of age

What is the epidemiology of croup? Affects boys slightly more often than girls. Peak occurrence is in fall and winter

What are the primary causative agents of croup? Parainfluenza virus (especially type 1), respiratory syncytial virus, adenovirus, influenza virus, Mycoplasma pneumoniae, and measles virus

Describe the typical history and course for croup. Illness begins with several days of mild upper respiratory symptoms. This is followed by hoarseness, a nonproductive “barking” cough (sometimes described as “seal-like”), and stridor. Most cases are mild but can progress to significant respiratory distress (tachypnea, nasal flaring, and retractions) and hypoxia. Symptoms often worsen at night

What is the differential diagnosis for croup? 1. Infection: bacterial tracheitis, peritonsillar abscess, retropharyngeal abscess, diphtheria 2. Foreign body aspiration 3. Anaphylaxis 4. Trauma: burns, thermal injury, blunt trauma, caustic ingestion

How is the diagnosis made? Clinically. The physician should try not to agitate the child, particularly if the symptoms are severe

What diagnostic studies are used? Perform studies only if patient is not in respiratory distress. 1. Radiograph of the anterior-posterior neck may show a “pencil tip” or “steeple sign” of the subglottic trachea. Do not use a radiograph to make management decisions in a patient with an unstable airway 2. Laboratory studies (e.g., CBC) usually not helpful

Why do some children improve spontaneously? Because of natural fluctuations in the disease

List 2 treatments for mild cases. 1. Humidification 2. Exposure to cold night air is thought to help, but this is largely anecdotal

51 Respiratory system [CHAPTER 4]

What are some treatments for severe cases of croup? For more severe symptoms requiring hospitalization: 1. Airway support, including O2, pulse oximetry, and intubation if necessary. Use a smaller ET tube than predicted for the child’s size as there is airway swelling. Clinical assessment and close observation are of paramount importance 2. Humidification, via cool mist. Avoid croup tents as they make observation of the patient difficult. 3. Racemic epinephrine—may cause rapid improvement in symptoms. If used, watch for rebound phenomenon—symptoms may abruptly return when the effect of epinephrine wears off, usually within 2 hours 4. Corticosteroids (most often dexamethasone due to long half-life)— may help in mild to severe croup; may be used in the outpatient setting if patients demonstrate maintained improvement 2–3 hours after treatment

Do most children with croup need hospitalization? No. Most cases are mild and symptoms typically resolve within a few days

What is spasmodic croup? A benign condition with recurrent episodes of stridor and barking cough. It may be triggered by viral illness but is not a direct result of the infection. It typically is of short duration, resolves spontaneously, and is rarely associated with severe respiratory distress

PNEUMOTHORAX

What is it? Separation of the visceral pleura from the parietal pleura, resulting in the presence of air in the pleural space

List 3 most common causes in infants. Barotrauma; RDS (previously called “hyaline membrane disease”; Ch 10, p. 94); bronchopulmonary dysplasia

List 6 most common causes in older children? Trauma, rupture of apical bleb, CF, severe coughing, asthma; it may also be idiopathic.

What are the symptoms? Mild to severe respiratory distress, and sometimes chest pain. A small pneumothorax may be asymptomatic.

What is a tension pneumothorax? Air collection in the pleural space under pressure, creating a shift in the mediastinum, compression of the opposite lung, compromise of venous return to the heart, and hemodynamic compromise. THIS IS A LIFE-THREATENING CONDITION!

52 Respiratory system [CHAPTER 4]

How is pneumothorax diagnosed? Chest radiograph. Occasionally, the supine trauma victim will have pneumothorax discovered during a CT scan, because the air is anterior in this situation

What is the treatment? A small, asymptomatic pneumothorax may be allowed to resolve spontaneously. Otherwise, chest tube placement is required until the pneumothorax resolves and an air leak, if present, seals.

List 2 ways recurrent pneumothorax is treated. 1. Instillation of a sclerosing agent, such as talc or tetracycline, via a chest tube or thoracoscopy 2. Resection of an apical bleb or other site of parenchymal leak via thoracoscopy or thoracotomy

How is tension pneumothorax treated? Immediate placement of a chest tube. If a tube is not available, a large-bore angiocatheter or needle should be placed in the anterior second intercostal space in the midclavicular line for decompression.

CYSTIC FIBROSIS (CF)

What causes CF? A defect in the CF transmembrane regulator protein

How is CF transmitted? Autosomal recessive trait; about 1 in 20 Caucasians carry the gene.

How common is CF? In the Caucasian population, about 1 in 2,000. It is also found in other Populations

53 Respiratory system [CHAPTER 4]

What is the pathophysiology? - An imbalance in Na and Cl creates a thick, sticky mucus that is difficult to clear. Abnormal, thickened secretions - Occur in a variety of organs, causing inspissation and mucus buildup. Pancreatic insufficiency is present

List 4 ways patients with CF may present. 1. Meconium ileus in the neonate 2. Recurrent bronchitis, pneumonia, or both 3. Malabsorption, with failure to thrive 4. Male infertility

What percentage of infants with CF have meconium ileus? - 10% of CF infants have meconium ileus - 99% of full-term infants with meconium ileus have CF

List 2 ways CF is diagnosed. Usually by an elevated sweat chloride concentration. DNA testing for specific mutations may also be used.

What is the most common CF gene mutation? F508, although there are over 1,000 other mutations. The relative frequency of specific mutations varies with ethnicity.

List 6 components of treatment. Child with cystic fibrosis (CF) Nutritional support, pancreatic enzyme supplementation, chest physical therapy, antibiotics, bronchodilators. Lung transplantation is now being attempted.

What is the outcome? With appropriate therapy, many patients live into adulthood. The end-stage event is usually respiratory failure.

54 Gastrointestinal system [CHAPTER 5]

Chapter 5

GASTROINTESTINAL SYSTEM

History of common Important topics: symptoms: Gastroenteritis Abdominal pain Dehydration Vomiting Pyloric stenosis Jaundice Poising Diarrhea Constipation

Gastrointestinal examination

55 Gastrointestinal system [CHAPTER 5]

History of common symptoms

Abdominal pain:  Onset  Duration  Location  radiation  Characteristics (diffuse, burning, crampy, sharp, dull)  Constant or intermittent  Frequency  Severity  Effect of: eating, defecation, urination, movement  Aggravating & relieving factors  Associated symptoms (fever, chills, nausea, vomiting, change bowel habits …)

Red flag signs include:  Bilious vomiting  Hemodynamic instability  Bloody stool or emesis  Weight loss  Night time waking with abdominal pain

Differential Diagnosis of Acute Abdominal Pain:

Generalized Pain Intestinal obstruction, diabetic ketoacidosis, constipation, malrotation of the bowel, volvulus, sickle crisis, acute porphyria, skeletal trauma, psychogenic pain. Right Upper Quadrant Epigastrium Left Upper Quadrant Appendicitis, cholecystitis, Gastroesophageal reflux, Gastroesophageal reflux, peptic hepatitis, gastritis, intestinal obstruction, ulcer, gastritis, pneumonia, gonococcal perihepatitis gastroenteritis,gastritis, peptic pancreatitis, volvulus, (Fitz-Hugh-Curtis syndrome), ulcer disease, esophagitis, intussusception, sickle crisis pneumonia pancreatitis, perforated viscus Right Lower Quadrant Hypogastric/Pelvic Left Lower Quadrant Appendicitis, intussusception, Cystitis, urolithiasis, appendicitis, Volvulus, intussusception, salpingitis, endometritis, pelvic inflammatory mesenteric lymphadenitis, endometriosis, ectopic disease, ectopic pregnancy, intestinal obstruction, sickle crisis, pregnancy, hemorrhage or strangulated hernia, colitis, strangulated hernia, rupture of ovarian cyst, endometriosis, ovarian cyst testicular torsion, psychogenic testicular torsion torsion, bladder distension pain, inflammatory bowel disease, gastroenteritis, pyelonephritis, salpingitis, ovarian cyst, ectopic pregnancy, endometriosis Investigation:  Laboratory Evaluation: CBC, electrolytes, liver function tests, amylase, lipase,UA, pregnancy test  Chest X-ray: Free air under diaphragm, infiltrates.  Acute Abdomen X-ray Series

56 Gastrointestinal system [CHAPTER 5]

Vomiting:  Frequency & duration  Timing: relation to food (specific foods that induce emesis), diurnal pattern  Character: effortless, forceful, projectile  Content: color, smell, recently eaten food or old food, uncurdled milk, bilious, feculent, blood, coffee ground material  Precedes a pain? If yes, did it relief it?  Aggravating & reliving factors  Association symptoms ( nausea, fever, headache, fever, cough …)

Red flag signs include:  Lethargy and listlessness  Inconsolability and bulging fontanelle in an infant  Nuchal rigidity, photophobia, and fever in an older child  Peritoneal signs or abdominal distention (“surgical” abdomen)  Persistent vomiting with poor growth or development

Differential Diagnosis: Common causes of vomiting by age group

Age Acute Chronic Infant - Gastroenteritis - Gastroesophageal reflux (1 month to 1 year) - Pyloric stenosis disease - Hirschsprung’s disease - Food intolerance - Acutely evolving surgical - Congenital atresia and abdomen: stenosis o Congenital atresia and - Malrotation stenosis - Intussusception o Malrotation o Intussusception - Sepsis and non-GI infection - Metabolic disorders

Children & adolescents - Gastroenteritis - Gastroesophageal reflux - Appendicitis disease - Sepsis and non-GI infection - Gastritis - Metabolic disorders - Food intolerance - Pregnancy - Cyclic vomiting - Toxic ingestion - Intracranial hypertension - Inborn errors of metabolism - Eating disorders

Investigations:  CBC, electrolytes, UA, amylase, lipase, LFTs, pregnancy test, abdominal X-ray series.

57 Gastrointestinal system [CHAPTER 5]

Jaundice:  Timing  Progression  Distribution of jaundice  Type of feeding  Association with dark urine, pale stool, right upper quadrant pain, pruritus, fever, pus discharge from umbilicus, bleeding from any site  History of excessive crying , abnormal jerky movements,  History of hemolytic anemia, gallstone, liver disease or using herbal medications  History of medications, blood transfusion & food contamination  Contact with jaundiced person  Any developmental delay

Historical Findings in Jaundice: Neonate Older Child Family history: Familial jaundice, Acute illness emphysema, infant deaths Failure to thrive Prenatal history: Infection in pregnancy, Family history of jaundice maternal risk for hepatitis, medications Exposure: Blood products, raw shellfish, Perinatal history: Hypoglycemia, vomiting, travel, drug abuse lethargy with feedings, failure to pass meconium, icterus, acholic stools.

Screening Labs  Complete blood count, platelets, differential, smear  AST, ALT, GGT, alkaline phosphatase  Total and fractionated bilirubin  Protein, albumin levels  INR, PTT  Stool color

Diarrhea:  It must be related to the patient's normal bowel habit  Onset, duration and frequency (number of stools per day)  characteristics of stools (bloody, mucus, watery, formed, oily, foul odor)  Associated symptoms (fever, abdominal pain, anorexia, vomiting , blood per rectum)  Symptoms of dehydration  Season (rotavirus occurs in the winter)  Child’s dietary history (Amount of fluid intake and food intake, Formula changes )  Type of food newly introduced  History of exposure to anyone else with a similar illness  History of thyroid disease, inflammatory bowel disease, celiac disease  Travel history  Drug history

58 Gastrointestinal system [CHAPTER 5]

Differential diagnosis of diarrhea:

Infectious Inflammatory Malabsorption Enteral Parenteral - Allergy (cow’s milk, - Lactase Deficiency soy protein - Celiac Disease - Infection of the - Acute intolerance) - Pancreatic gastrointestinal tract infections - Inflammatory Bowel insufficiency – Cystic - Hemolytic Uremic elsewhere in Disease Fibrosis, pancreatitis Syndrome the body - Necrotizing - Bile deficiency – - Pseudomembranous (e.g. UTI, Enterocolitis biliary atresia, Colitis secondary to Otitis Media, - Whipples disease cirrhosis, hepatitis, Clostridium Difficile sepsis) primary bile acid malabsorption - Short gut syndrome Psycho-social (after bowel - Irritable bowel resection), fistula or syndrome blind loop - Defective sodium absorption - Fructose intolerance Immune deficiency related Feed related Endocrine - Hypogammaglobulinemia, IgA - Overfeeding - Hyperthyroidism, deficiency, SCIDs, AIDs, Chronic (infants) Hypoparathyroidism granulomatous disease, thymic - Excessive diet gum/ , Addison’s disease hypoplasia sorbitol/ lactulose ingestion Neoplastic Surgical Toxin related - Laxative abuse/ accidental ingestion - Intussusception - Antibiotics Secretory tumors – carcinoid, - Malrotation Associated Diarrhea Zollinger-Ellison syndrome (gastrin - Partial small bowel - Toxin ingestion secreting tumor) obstruction (arsenic, lead, - Vaso-active substance secreting - Ischemic bowel organophosphates), tumors, such as neuroblastoma - Toxic Megacolon chemotherapy, - Lymphoma - Intestinal radiation - Adenocarcinoma, Polyposis Lymphangectasia - Appendicitis

Laboratory Evaluation:  Electrolytes, CBC with differential. Gram's stain of stool for leukocytes.  Cultures for enteric pathogens, stool and blood for clostridium difficile toxin. Stool occult blood. Stool cultures for cholera, E. coli , Yersinia, rotavirus assay  Neutral fat (maldigestion); split fat (malabsorption)

59 Gastrointestinal system [CHAPTER 5]

Constipation:  It must be related to the patient's normal bowel habit  Duration and frequency (number of stools per day)  Acute or chronic, depending on duration  Characteristics of stools (bulky, fatty stools, foul odor. Hard stools, streaks of blood on stools)  painful defecation, straining  Associated symptoms (fever, abdominal pain, anorexia, urinary incontinence … )  Recent change in diet (Excessive cow's milk or limited fiber consumption)  History of thyroid disease, inflammatory bowel disease  Drug history

Differential diagnosis:

Functional constipation Dietary Anorectal and colonic malformations These children have no Lack of fiber and increased Constipation from birth, often lab abnormalities consumption of processed easily diagnosed with physical suggestive of an organic foods exam etiology Hirschsprung disease Cow’s milk intolerance Spinal cord abnormalities - A disease caused by the Associated with There is a history of swelling or failure of ganglion cells to gastroesophageal exposed neural tissue in the migrate into the distal reflux disease, lower back and incontinence; bowel resulting in the enterocolitis and examples include affected segment of colon constipation meningomyelocele, tethered failing to relax and cord, and sacral teratoma. causing a functional obstruction Multisystem disease Drugs/Toxins - Cystic fibrosis (CF): Autosomal recessive disease as a - Lead poisoning: Sporadic result of a mutation in a chloride transporter gene. vomiting, abdominal pain - Hypothyroidism: Symptoms include constipation, and constipation at levels as lethargy, macroglossia, cold intolerance, dry skin, low as 2.90 micromoles/L brittle hair - Infantile botulism: A - Celiac disease: Gluten allergy that occasionally neuroparalytic syndrome as presents with constipation likely because of reduced a result of the botulinum food intake. neurotoxin associated with - Developmental delay: These children have a honey. diminished capacity to become toilet trained and - Narcotics may have a decreased ability to perceive the need to - Psychotropics have a bowel movement. - Multiple Endocrine Neoplasia Type 2 (MEN2): Constipation may be the first presenting sign of MEN2 syndrome. - Muscular dystrophy - Diabetes mellitus

Laboratory Evaluation:  Electrolytes, CBC with differential, calcium. Abdominal X-ray: - Air fluid levels, dilation, pancreatic calcifications.

60 Gastrointestinal system [CHAPTER 5]

Gastrointestinal examination

General comments:

- Nutritional status:  Obese, thin or normal  Signs of muscle wasting (flat buttock, loose skin folds in the thigh & axillae due to loss of subcutaneous fat) - Hydration status - Hands:  Clubbing  Koilonychias (spooning of the nails) in iron deficiency  Palmar erythema e.g. chronic liver disease  Flapping tremor e.g. liver failure  Purpura e.g. chronic liver disease - Eyes:  Jaundice (look at the upper bulbar conjunctiva while the child is looking downwards  Pallor (look at the lower palpebral conjunctiva while the child is looking upward  Periorbital edema e.g. nephritic syndrome, nephritis, other causes of hypoproteinemia - Face, neck and upper chest:  Spider naevi (in area which is drained by the superior vena cava) - Lips:  Pigmentation in Peutz Jeghers syndrome  Cheilitis (inflammation of the lips)  Angular stomatitis - Teeth:  Number of teeth, missing teeth, caries discoloration (yellowish in tetracycline, chalk- white in fluorosis) – dental abscess - Gum:  Gingivitis (inflamed easily bleeding gum) hypertrophy e.g. phenytoin therapy, poor dental hygiene, stippled blue line along the edge of the gum in lead poisoning - Tongue:  Ulcers  Color: pale & smooth in iron deficiency anemia  Strawberry tongue e.g. scarlet fever, Kawasaki disease  Geographic tongue: a benign condition - Buccal mucosa:  Ulcers  Monilial thrush  Koplik's spot in measles

61 Gastrointestinal system [CHAPTER 5]

- Palate, fauces, tonsils & pharynx:  Cleft  Petechiae e.g. infectious mononucleosis  Ulcers  Vesicles e.g. herpangina, enanthem of varicella  Exudates over tonsils e.g. acute follicular tonsillitis, infectious mononucleosis

Abdominal examination: - To facilitate the description of the findings the abdomen is divided into 9 regions by: 1. Tow horizontal planes: a) Subcostal b) Intertubercular 2. Tow vertical planes which connect: a) Tips of the 9th ribs b) Femoral arteries just below the inguinal canal - The 9 regions are:

Inspection:

 The child should lie flat & appropriately exposed from nipple to mid-thigh. Older children should be exposed up to the level of pubic symphysis & the genitalia should be examined after completion of the auscultation  Watch the environmental temperature  Observe from side & the foot end of the bed  Look for: o Distention: fluid, flatus, faces & masses o Dilated veins: caput medusa in o Conduit: colostomy, ileostomy portal hypertension o Tubes: gastrostomy, nephrostomy, o Umbilicus: inverted (normal) cystostomy & peritoneal or everted o Restricted movement: peritonitis o Obvious masses o Scars: previous peritoneal dialysis & o Hernias surgery o Genitalia o Visible peristalsis

62 Gastrointestinal system [CHAPTER 5]

Palpation:

Please note:

 Try to be at the level of the child's  Ask the child where it hurts tummy  Palpate gently keeping hand flat &  Keep looking at the child's face to avoid poking with the finger tips observe painful expressions  Hands should be warm

Superficial palpation:  Start from a point away from pain, if any  If there is no pain, start from the right iliac fossa & proceed clock-wise to end in the suprapubic area  Note: tenderness, rigidity and mass

Deep palpation: for  Liver  Spleen  Kidneys  Urinary bladder  Any abnormal masses

Liver Spleen Kidneys

- Start from the right iliac fossa: - Start from the right iliac fossa & - Better palpated bi-manually & proceed towards the right costal proceed towards the left they are also ballotable margin. If liver is palpable, note hypochondrium. If the spleen is - Put the left hand in the renal the following: not palpable roll the patient over angle & right hand in the - Measure the palpable liver in to the right lateral position, splint lumber area centimeter from right costal the left lower rib cage with your - Push the left hand upward & margin in the mid-clavicular line left hand & palpate again while the the right hand downwards - Nature of the border whether patient is taking deep breaths. If - If palpable, look for sharp, irregular or rounded the spleen is palpable: ballottement - Consistency: soft, firm or hard o Feel for the notch - Repeat the same on the other - Surface: smooth, nodular o Note the features as side - Tenderness mentioned in case of liver - Normally kidneys are not - Percussion: percusse over it & palpable except in the early then percusse from the right infancy or in the very thin second intercostals space in the child where only the lower mid-clavicular line to detect the pole is palpable upper border of the liver. Then - Kidneys are round & firm measure the liver span in - If palpable look for: centimeter o Size o Consistency o Surface o Tenderness o Percussion note- resonant

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How to differentiate left kidney from spleen: spleen kidney 1. to get above the swelling Not possible possible 2. notch May be felt Not felt 3.percussion note Dull Resonant 4.bimanually palpable & palatable No Yes 5.movment with respiration Moves Does not move

Urinary bladder:  A distended bladder is felt in the supra-pubic area  It is globular arising from the pelvis  Percussion note is dull  Desire for micturition on handling o Causes of distended bladder: 1. Normal child 2. Outflow tract obstruction: posterior urethral valve. Stricture, stone 3. Neurological; spina bifida, neurogenic shock

Palpate other areas: note for  Tenderness  Mass: o Site, size, consistency, tenderness, movement with respiration, mobility and percussion note

Percussion: Look for: a) Ascites (frequently asked in the examination) B) Percuss over any mass felt during palpation

Ascites Fluid thrill Shifting dullness (for huge collection of fluid) (for moderate collection of fluid)  Need one assistant, use either the  Start with the child in supine position patient's or examiner's hand, put the  Start from the umbilicus towards the left ulner side of the hand in the middle of flank & note the point of dullness. Keep the abdomen your finger at that point. Roll the child  Put your left hand flat on the child's left over the right side & wait for 30 seconds lumber region  Percuss over the same area & note the  Now tap the opposite lumber region & resonance. Now proceed towards the feel the impulse by the flat of your left umbilicus till you get the dullness again hand i.e. the previous point of dullness is shifted from left to the right side i.e. shifting dullness Puddle test  If the ascites in minimal it may be missed by the above methods, but may be elicited by putting the child in knee elbow position  Percuss over the umbilicus & note the dullness, normally it is resonant  Turn to supine position & percuss again note the resonance

64 Gastrointestinal system [CHAPTER 5]

Auscultation: (for peristalsis & bruit) 1. For peristalsis: over the right iliac fossa & one centimeter to the left & above the umbilicus a) Increased peristalsis : early stage of intestinal obstruction b) Decreased or absent peristalsis: paralytic ileus or late stage of intestinal obstruction 2. Renal bruit: auscultate on both sides over renal arteries, two centimeter lateral to the umbilicus, present in renal artery stenosis

Examination of genitalia: - Inspect & palpate for:  Ambiguous genitalia  Undescended testis  Scrotal pigmentation  Retractile testis  Micro or macro- penis  Hydrocele  Hypo or epi- spedius  Inguinal hernia  Urethral orifice  Signs of puberty

Examination of hernia: - Hernia may be obvious during inspection, particularly in a crying child. - The sited for hernia are inguinal, umbilical & epigastric areas. - In a big child inguinal hernia is examined better in the standing position. Ask him to cough & look at the hernia orifices whether any swelling or pulsation appears. Try to get above the swelling. Examine for:  Consistency  Reducibility  Tenderness  Auscultation for peristalsis

Difference between inguinal hernia & hydrocele:

hernia hydrocele Cough impulse Transmitted Not transmitted Getting above the swelling Not possible Possible Reducibility May or may not be reduced Not reducible Transillumination Negative Positive

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Rectal examination: - This is to be done at the end - Need not be routine in children - Explain to the child & the parents - Use lubricant - Keep the child in the left lateral position with the knees flexed - Indicated in: o Acute abdomen o Chronic constipation o Rectal bleeding o Suspected child abuse

Inspected for: o Anal fissure: common in the 6 O-clock & 12 O-clock positions o Skin tags o Fistula o Fecal soiling o Thread worms o Signs of child abuse e.g. abrasions

Palpate: gently introduce the finger & feel for: o Anal tone: tight in anal stenosis & hirschsprung's disease & absent in spina bifida o Mass e.g. faecal mass, intussusception & appendicular mass o Tenderness e.g. acute appendicitis o Look at the finger-tip for blood stains

Back: don't forget to examine the back for: o Scar o Defect in the spine o Swelling, tuft of hair or discoloration especially at the lower back

Examination of the lymph nodes & bones & joint: If there is hepatomegaly and / or splenomegaly examine the lymph nodes: o Cervical o Axillary o Inguinal o Also examine the bones & joints for any tenderness or swelling

66 Gastrointestinal system [CHAPTER 5]

Important topics

GASTROENTERITIS

List 5 signs and symptoms of acute gastroenteritis. Signs are variable, but may include nausea, vomiting, diarrhea, abdominal pain, and excess flatulence

What causes most cases of acute gastroenteritis? Most cases are caused by viral infections (Rotavirus)

VIRAL GASTROENTERITIS: List the 3 viruses that are most common in children. Rotavirus, adenovirus, “Norwalk” virus

List 2 ways the viruses are spread. Fecal-oral route and respiratory route. Good hygiene and hand washing help reduce the risk of infection

List 3 ways viral gastroenteritis is diagnosed. 1. Usually is a clinical diagnosis 2. Detection of viral antigens in stool 3. Viral culture of stool

How is viral gastroenteritis treated? Usually supportive; prevent dehydration with IV or oral fluid and electrolyte management, depending on the severity

What may distinguish viral from bacterial gastroenteritis? Bacteria more commonly cause bloody diarrhea, stool leukocytes, and tenesmus. Children with viral gastroenteritis also may have non-GI symptoms such as cough, nasal discharge, and myalgia

BACTERIAL GASTROENTERITIS Name 8 bacteria that cause acute gastroenteritis. Salmonella, Shigella, Campylobacter jejuni, E. coli, Yersinia enterocolitica, Clostridium difficile, Clostridium perfringens, and S. aureus (toxin)

List 4 ways acute bacterial gastroenteritis is diagnosed. 1. Stool culture (Salmonella, Shigella, Campylobacter, E. coli, Yersinia, C. difficile, C. perfringens) 2. Serologic testing (Yersinia) 3. Toxin assay (C. difficile) 4. Toxin assay in food (S. aureus)

67 Gastrointestinal system [CHAPTER 5]

How is it treated? - Supportive treatment (IV or orally) for fluid and electrolyte loss. Antibiotic therapy is usually not indicated because illnesses are often self-limited. - Exception: Shigella is usually treated because of public health concerns. Extraintestinal infections (including sepsis) are indications for antibiotic treatment. Infants may be given antibiotics more readily than older children.

List 6 indications for IV fluid. Inability to drink liquids, severe vomiting, significant decrease in urination, significant tachycardia, shock or impending shock, coma

DEHYDRATION

What is it? Depletion of total body water

List 4 common pediatric causes of dehydration. Gastrointestinal (GI) losses (e.g., from gastroenteritis, diarrhea), inadequate fluid intake, excess renal losses, increased insensible losses (e.g., fever, sweating)

List 6 findings in mild dehydration. Loss of 3–5% of body weight, normal hemodynamic variables and skin turgor, dry mucous membranes, slight decrease in urine output, and decreased tearing

List 6 findings in moderate dehydration. Loss of 8–10% of body weight, decreased skin turgor, dry mucous membranes, relatively normal hemodynamic variables, decreased urine output, and slight to moderate increase in heart rate

What are the findings in severe dehydration? Loss of 10–15% of body weight, abnormal skin turgor and color, dry mucous membranes, rapid heart rate, decreased BP (although it may still be normal!), poor peripheral perfusion, no urine output or tears

68 Gastrointestinal system [CHAPTER 5]

Assessment of dehydration:

What is the clinical assessment of dehydration? No clinical Clinical dehydration Shock dehydration General appearance Appears well Appears unwell or Appears unwell or deteriorating deteriorating Conscious level Alert and Altered responsiveness, Decreased level of consciousness responsive e.g. irritable, lethargic Urine output Normal Decreased Decreased Skin color Normal Normal Pale or mottled Extremities Warm Warm Cold Eyes Normal Sunken Grossly sunken Mucous membranes Moist Dry Dry Heart rate Normal Tachycardia Tachycardia Breathing Normal Tachypnoea Tachypnoea Peripheral pulses Normal Normal Weak Capillary refill time Normal Normal Prolonged (>2 s) Skin turgor Normal Reduced Reduced Blood pressure Normal Normal Hypotension (indicates decompensated shock) , red flag sign- helps to identify children at risk of progression to shock

 Assessment of severity of dehydration: (C BASE H2O) - Capillary - BP - Anterior - Skin - Eyes - HR - Oral - Output of refill fontanelle turgor sunken mucosa urine

What is important to remember regarding the relationship between BP and dehydration in the infant and the child? Infants and children may maintain a relatively normal BP until a severe degree of dehydration (15– 25%) has occurred! The physician must monitor other variables (i.e., heart rate, urine output, skin turgor, mucous membranes, and mental status).

What are the principles of treatment? • Provision of maintenance daily fluid and electrolyte requirements • PLUS replacement of deficit fluids and electrolytes – 10cc per% weight loss per kg • PLUS replacement of ongoing losses (consider urine output, bowel movements/diarrhea, and fever)

69 Gastrointestinal system [CHAPTER 5]

Maintenance fluid & electrolyte requirements:

Correction of fluid & electrolyte deficits:

 4:2:1 Rule o 4 cc/kg/hr for first 10 kg o 2 cc/kg/hr for 10-20 kg o 1 cc/kg/hr for >20 kg

What are the common IV fluids used?  first month of life: D5W /0.2 NS + 20 mEq KCI/L (only add KCl if voiding well)  children: D5W/0.9 NS + 20 mEq KCI/L or D5W/0.45 NS + 20 mEq KCI/L  NS: as bolus to restore circulation in dehydrated children

ISOTONIC DEHYDRATION

What is it? Dehydration with maintenance of normal Na+ concentration; as dehydration worsens, K+ and BUN tend to increase, and bicarbonate (HCO3-) tends to decrease

What will happen to urine specific gravity? It will increase. However, infants have poor ability to concentrate urine; thus, specific gravity may reach only 1.020, even in cases of severe dehydration.

What is the most common cause of isotonic dehydration? GI losses secondary to viral or bacterial Enteritis

70 Gastrointestinal system [CHAPTER 5]

What are the electrolyte concentrations of GI fluids?

What is the treatment strategy? Calculate fluid and electrolyte losses using body weight, electrolyte values, and estimated time of dehydration. Then, rehydrate with appropriate fluids for 24–48 hours. Note: Replace K+ more slowly because K+ needs time to move intracellularly, where it is the predominant electrolyte. K+ is added after normal renal function is confirmed.

HYPERNATREMIC DEHYDRATION

What is it? Loss of more body water than solute, or administration of excess sodium, resulting in elevated serum sodium (>145 mEq/L)

What are the 4 causes of hypernatremic dehydration? 1. Increased Na+ (excess Na+ intake or administration, hyperaldosteronism) 2. Water loss (excess respiration and perspiration, diabetes insipidus 3. Water loss that is greater than Na+ loss (GI and renal losses) 4. Abnormal central control of osmotic balance (essential hypernatremia)

List 5 signs and symptoms. Lethargy, irritability, muscle weakness, convulsions, coma

Why is hypernatremic dehydration dangerous? Because losses are more from intracellular than intravascular spaces, the symptoms may be masked until dehydration becomes severe

How is hypernatremic dehydration treated? Rehydrate slowly with low-sodium fluid to avoid rapid fluid shifts to the intracellular spaces. Usually, the deficit should be replaced over the course of 48 hours

What may happen if correction is too rapid? Cerebral edema

HYPONATREMIC DEHYDRATION

What is it? Relative depletion of sodium compared with total body water loss

71 Gastrointestinal system [CHAPTER 5]

What are the 4 common etiologic factors? GI losses, renal losses (including those caused by diuretics), adrenal insufficiency, third-space losses (e.g., ascites, postsurgical, burns)

List 11 signs and symptoms. Anorexia, nausea, muscle cramps, lethargy, disorientation, agitation, diminished or pathologic reflexes, Cheyne-Stokes respiration, hypothermia, pseudobulbar palsy, seizures

What is the treatment? Isotonic saline, administered at a rate determined by the assessment of fluid and electrolyte losses and adequacy of rehydration. In some cases, judicious administration of hypertonic saline may be beneficial.

PYLORIC STENOSIS

What is it? Hypertrophy of the pyloric muscle, causing gastric outlet obstruction

What are the etiologic factors? Unknown. Suggested processes include decreased number of ganglion cells, hypergastrinemia, edema secondary to feeding, and a decrease in nitric oxide synthase. It is probably a “multifactorial” condition

What is the most common symptom? Progressive, projectile, non-bilious vomiting that occurs after feeding (The infant is then very hungry again.)

List 4 physical signs. 1. Abdominal protuberance possibly present secondary to gastric distension 2. Gastric waves visible through abdominal wall 3. Palpable pylorus deep in epigastrium (“olive sign”) 4. Dehydration sometimes present

What metabolic abnormalities may be noted? Dehydration; hypokalemic, hypochloremic metabolic alkalosis; and hypoglycemia. Rehydration and correction of electrolytes are necessary before surgery. Potassium and glucose need to be included judiciously in resuscitative fluid.

List 2 ways in which it is diagnosed. Ultrasound (the best study); upper GI series: the “string sign” (i.e., a string of contrast passing through pylorus) is seen. (Caution: Pyloric spasm may mimic pyloric stenosis on upper GI series. An upper GI series can definitively rule out pyloric stenosis but cannot definitively rule it in.)

How is it treated? Ramstedt pyloromyotomy via open incision or laparoscopic technique.

What is the outcome? Excellent. Babies begin feeding 4–6 hours after surgery

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POISONING

What are the types of poisoning? - Accidental (the vast majority) - Deliberate self-poisoning in older children - Non-accidental as a form of child abuse - Iatrogenic

What is the usual age at presentation for accidental poisoning? Young children, with a peak age of 30 months.

What are the potential harmful poisons in children?

Table 7-1. Potential toxicity in accidental poisoning in infants and young children, with some examples: Toxicity Medicines Household products Plants Low Oral contraceptives, most Chalk and crayons, washing powder Cyclamen, sweet pea antibiotics Intermediate Paracetamol elixir, salbutamol Bleach, disinfectants, window Fuchsia, holly cleaners High Alcoholic drinks, digoxin, iron, Acids, alkalis, petroleum distillates, Deadly nightshade, salicylate, tricyclic antidepressants organophosphorus insecticides laburnum, yew

What is the usual age at presentation for deliberate poisoning? Older children, it's a serious symptom so the child should be assessed by a child & adolescent psychiatrist & a social worker

What are the clinical features of poisons? Tachypnoea Aspirin, carbon monoxide Slow respiratory rate Opiates, alcohol Hypertension Amphetamines, cocaine Hypotension Tricyclics, opiates, β-blockers, iron (secondary to shock) Convulsions Tricyclics, organophosphates Tachycardia Cocaine, antidepressants, amphetamines Bradycardia β-blockers Large pupils Tricyclics, cocaine, cannabis, amphetamines Small pupils Opiates, organophosphates

List the important points in history. - Obtain history from family members or friends - Route, timing & number of exposures (acute, chronic or repeated ingestion) - Substance identification: attempt to identify exact name of substance ingested & constituents, including product name, active ingredients, possible contaminants, expiration date, concentration & dose - Quantity of substance ingested: attempt to estimate a missing volume of liquid or the number of missing pills from a container - Environmental information: accessible items in the house or garage, open containers, spilled tablets

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Potentially harmful poisons: Poison Adverse effects Management Alcohol (accidental or Hypoglycaemia Monitor blood glucose. experimenting by older children) Coma Intravenous glucose if necessary. Respiratory failure Blood alcohol levels for severity Acids and alkalis Inflammation and ulceration No emesis/gastric lavage of upper gastrointestinal No chemical antidotes as they produce heat tract leading to stenosis Early endoscopy Digoxin Arrhythmias, Activated charcoal if <1 h after ingestion hyperkalemia ECG monitoring, serum digoxin concentration Disc or button batteries Mild gastrointestinal Monitor progress with chest and abdominal symptoms X-rays - almost all passed within 2 days, no Oesophageal stricture with symptoms large batteries (>20 mm) Remove batteries if in oesophagus or signs of Corrosion of gut wall and disintegration. Some authorities recommend perforation removal if not passed within 48 h to avoid danger of Break open with release of disintegration mercury - rare Iron Initial: vomiting, diarrhoea, Serious toxicity if >60 mg/kg elemental iron haematemesis, melaena, Abdominal X-ray to count the number of tablets acute gastric ulceration Serum iron levels Latent period of Gastric lavage considered in severe cases if <1 h after improvement ingestion Hours later: drowsiness, Intravenous desferrioxamine for chelation coma, shock, liver failure with hypoglycemia and convulsions Long term: gastric strictures Paracetamol - large ingestion Gastric irritation Check plasma concentration after 4 h after ingestion. uncommon in young children as Liver failure after 3-5 days If >150 mg/kg paracetamol is thought to have been tablets are difficult to swallow and taken, or the plasma concentration is high, start elixir is too sweet intravenous acetylcysteine Monitor prothrombin time, liver function tests and plasma creatinine Petroleum distillates Aspiration causing Emesis and gastric lavage contraindicated (paraffin/kerosene, white spirit) pneumonitis Usually no treatment required Salicylates Tinnitus, deafness, nausea, Measure plasma salicylate concentration vomiting, dehydration Gastric lavage if <1 h. Give activated charcoal Hyperventilation causing Monitor fluid and electrolyte balance respiratory alkalosis. Later, Correct dehydration, electrolyte imbalance and metabolic acidosis. acidosis. Dialysis Hypoglycaemia. Disorientation Tricyclic antidepressants Sinus tachycardia Activated charcoal if within 1 h Conduction disorders Cardiac monitoring. Treat arrhythmias conservatively Dry mouth, blurred vision with sodium bicarbonate Agitation, confusion, Correct metabolic acidosis convulsions, coma Treat convulsions with diazepam Hypotension Respiratory depression

74 Gastrointestinal system [CHAPTER 5]

What is the management of poisoning?

75 Genitourinary system [CHAPTER 6]

Chapter 6

GENITOURINARY SYSTEM

History of common Important topics: symptoms: Urinary tract infection Polyuria Diabetes insipidus Enuresis Hypertension Hematuria

Urinary examination

76 Genitourinary system [CHAPTER 6]

History of common symptoms

Polyuria:  Time of onset of excessive urination  Constant daytime thirst or waking at night to drink  Poor urinary stream  Persistent dribbling of urine; straining to urinate  Excessive fluid intake  dysuria  recurrent urinary tract infections; urgency  daytime and nighttime enuresis  Association symptoms (fever, Vomiting, constipation. Abdominal and perineal pain …)  history of lumbar puncture, spinal cord injury, renal disease

Differential Diagnosis of Polyuria - Water Diuresis - Primary polydipsia - Diabetes insipidus - Obstruction by posterior urethral valves, ureteropelvic junction obstruction, ectopic - ureter, nephrolithiasis - Renal infarction secondary to sickle-cell disease - Chronic pyelonephritis - Solute Diuresis: Glucose, urea, mannitol, sodium chloride, mineralocorticoid - deficiency or excess, alkali ingestion

Enuresis: (involuntary bladder emptying)  Onset: primary vs. secondary  Nocturnal vs. daytime  Frequency and severity (during daytime and nighttime) o number of episodes/night o number of nights/week  Urination pattern – dribbling, dysuria, hesitancy, urgency, quality of stream  Associated symptoms (Lower back pain, Abdominal pain, Bad dreams)  Fluid intake and dietary habits (Caffeinated beverages)  Past history of urinary tract infections  History of other medical problems (such as lower back CNS trauma, diabetes mellitus)  History of stressful events (and other psychosocial history including abuse)  Medications and allergies  Any treatments or techniques previously attempted to resolve enuresis

Differential Diagnosis of Enuresis - Infection - Diabetes insipidus - Ureteropelvic junction obstruction - Wilms tumor - Obstructive ectopic ureter - Neuroblastoma - Posterior urethral valves - Pelvic tumors - Nephrolithiasis - Fecal impaction - Diabetes mellitus - Familial – primary enuresis

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Hematuria:  Exclude menses in a female  Color of urine  Duration  Frequency  Pain (dysuria, suprapubic pain, flank pain (renal colic), abdominal or perineal pain)  Timing of pain: o Before Hematuria: stone o After Hematuria: clot colic due to arteriovenous malformation, malignancy or other causes  Time in the stream: o At the beginning: urethral causes o Late: trigone of the bladder, or its neck o Total: any site other than the bladder or the urethra  Associated symptoms (fever, bloody diarrhea, recent trauma, rashes, arthritis …)  Drugs history

Causes of Red Urine: - Pyridium, phenytoin, ibuprofen, cascara laxatives, rifampin, berries, flava beans, food coloring, rhubarb, beets, hemoglobinuria, myoglobinuria

Clues to localization: Glomerular Non-glomerular - Brown or tea colored (coca-colored) urine - Red dark urine - Red blood cell lasts, cellular casts, tubular - Blood clots cells - No proteinuria or ≤ 2+in the absence of - Proteinuria > 2+ by dipstick in the gross hematuria absence of gross Hematuria - Normal morphology of erythrocytes - Dysmorphic RBC'S by phase contrast - Erythrocyte volume > 50 µm3 microscopy - Erythrocyte volume < 50 µm3

Causes of hematuria: Glomerular Non-glomerular - Acute post-streptococcal - UTI bacterial (E. coli), viral (adenovirus), glomerulonephritis protozoa (schistosomiasis) - Hemolytic uremic syndrome - Obstructive uropathy e.g. PUJ - Focal segmented glomerulonephritis obstruction, posterior urethral valve - Membrano-proliferative - Cystic kidney disease glomerulonephritis - Renal vein thrombosis, hemangioma - mesangio-proliferative - Hypercalciuria, calculi, nephrocalcinosis glomerulonephritis - Renal tumors (wilms tumor), leukemia - recurrent gross hematuria syndrome - Foreign body (in urethra or bladder) - IgA nephropathy (berger disease) - AI port syndrome - Benign familial hematuria

78 Genitourinary system [CHAPTER 6]

Genitourinary examination

General examination:

 Ill or well looking  Cushingoid features, stria in lower  Level of consciousness limbs & lower abdomen, short  State of hydration stature & hirsutism points to side  Edema puffy face or generalized in effect of steroid lower limb, sacral, scrotum in male,  Multiple café' au lait spots point to labia majora in female & soft auricle neurofibromatosis for renal artery  Respiratory distress stenosis & hypertension  Check blood pressure in standing & sitting position if high for age check for signs of volume overload, heart exam & fundus

Nails:  Any dystrophy point to nail patella  Leukonychia: hypoalbuminemia, a sign of nephritic syndrome  Muehrcke's lines: transverse opaque bands, hypoalbuminemia  Terry's nail: half & half nail: chronic renal failure  Mees' line: a single transverse white band: acute renal failure  Beau's line: non pigmented indented transverse band; any cause of catabolic state

Hand & limps:  Purpuric rash in lower limbs & buttocks for Henoch–Schönlein purpura  Anemia, asterixis, arteriovenous fistula in the waist or the forearm  Bruising, hyperpigmentation, scratch mark (due to calcium deposition), uremic frost  Peripheral neuropathy, myopathy, bone tenderness

Head & neck:  Eye: o Anemia o Jaundice o Band keratopathy: calcium deposition in the cornea  Mouth: o Uremic fetor o Mucosal ulcers o Oral thrush o Large tongue: beckwith wiedemann syndrome (renal medullary dysplasia) o Separated, deformed teeth: renal tubular disorder (carbonic anhydrase deficiency type II)

79 Genitourinary system [CHAPTER 6]

 Dysmorphic features such as deformed external ear may be associated with renal anomalies  Gingival hypertrophy points to cyclosporine  Rash in nose & neck (SLE)  Muddy complexion & signs of pruritus point to uremia in chronic renal failure  Adenoma sebaceum & shagreen patches point to tuberous sclerosis for cystic kidney disease

Cardiorespiratory system:  Palpate femoral pulses may point to coarctation of the aorta with renal failure & hypertension  Bruit over carotid & renal arteries for renal artery stenosis  Signs of cardiomegaly indicate volumes overload or long standing hypertension  Pericarditis with friction rub evidence of advance uremic state  Murmur point out to subacute bacterial endocarditis lead to Nephritis  Rapid respiratory rate, recession, diffuse fine crepitations of lung basis indicate pulmonary edema  Kussmaul respiration: point to metabolic acidosis

Abdomen:  Inspection: o Nephrectomy scare o Bulge of a transplanted kidney o Scares for peritoneal catheters o Ascites (nephritic syndrome):  Large kidney  Pretention of urine in bladder  Absent abdominal wall musculature (Prune Belly syndrome) o If abdominal distention not obvious ask the child to lie in supine position & put his arms across the chest & raise his shoulder off the bed & see the upward movement of the umbilicus  Palpation: o Enlarged kidney tends to bulge forward while the perinephric abscesses or collections bulge backward o A transplanted kidney is seen in the right or left iliac fossa o Hepatomegaly or splenomegaly may be seen in polycystic kidney disease o Feel for the bladder enlargement or aortic aneurysm  Percussion & auscultation: o Ascites o Renal bruit

Back: (by using a base of fist)  Elicit tenderness over the spine: osteomalacia  Murphy's kidney punch: elicit tenderness over the renal angel: renal infection  Sacral edema: nephritic syndrome

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Renal enlargement (can be palpated in healthy neonate but not in older children) Unilateral Bilateral - Hydronephrosis 2ry to PUJ obstruction - Polycystic kidneys - Multi cystic kidney - Hydronephrosis 2ry to posterior urethral - Renal vein thrombosis valve, urethral structure - Malignancy - Bilateral renal tumor - Wilms tumor Hepatosplenomegaly Bladder - SLE - Enlarged bladder should be examined by - JRA palpation & percussion - Bacterial endocarditis - If bladder detected ask the patient to pass - Shunt nephritis urine & examine again - Hypersplenism  glycogen storage - In case of retention of urine, do rectal disease associated with glomerulus exam to exclude pelvic mass sclerosis Genitalia Anus - Look for foreskin in male - Imperforated or abnormally positioned - Position of urethral meatus for opening hypospadias & epispadias - Position of Testes (undescended testes) - Ambiguous genitalia

Musculoskeletal & CNS examination: - Hypertonia & hypotonia may lead to recurrent UTI & nephrocalcinosis - Muscle wasting in chronic renal failure - Signs of Rickets for Renal Osteodystrophy or Renal tubular disease - Meningomyelocele, tuft of hair in the lumbosacral area may have recurrent UTI neurogenic bladder & hydronephrosis - Hemihypertrophy in Wilms tumor - Facial nerve palsy  indicates severe hypertension & intracranial hemorrhage - Absent thumb & radius may indicate Fanconi anemia with Hypoplastic or Horseshoe kidney

Ophthalmologic examination:  Papilledema (hypertension)  Cataract (side effect of steroid)  Keratoconus in Alport syndrome  Retinitis pigmentosa (Juvenile Nephrolithiasis)  Cystine crystal in the cornea (cystinosis) by slip-lamp examination  Aniridia (absence of the iris)

81 Genitourinary system [CHAPTER 6]

Important topics

URINARY TRACT INFECTION (UTI)

What does the term UTI refer to? - Infection of the urethra and bladder; the term grossly encompasses ascending infections up to the kidney as well - urine specimen with > 105 colonies/mL of a single organism

Are female or male children more likely to have UTIs? - In infants, males and females are affected equally. Uncircumcised male infants may have a slightly higher risk. - In older children, females are affected more commonly.

What are the most common etiologic agents? - E. coli accounts for 70–90% of infections. - Other agents include Klebsiella, Proteus, and enterobacteria species.

What is the pathophysiology in infants versus children? - Infection in infants usually results from either bacteremia or migration of bacteria from the urethra. - In older children, UTIs more commonly occur because of ascending bacteria from the lower urinary tract

What is acute bacterial Cystitis? And List 2 characteristics. - Infection of the bladder itself: 1. Hyperactivity of the detrusor muscle 2. Decreased functional capacity of the bladder

What are the potential symptoms of a UTI?

In infants In older children - Fever, weight loss, fussiness, failure - Fever, urinary frequency, pain to thrive, nausea, vomiting, during urination, incontinence, diarrhea, and jaundice bed-wetting, abdominal pain, foul- smelling urine, and hematuria

List 4 findings that suggest infection. 1. Pyuria; however, infection can occur in the absence of pyuria. Conversely, pyuria can be present without infection. 2. Microscopic hematuria 3. Presence of nitrites on urinalysis 4. A urine culture result of 100,000 colony-forming units/mL is diagnostic of infection. Occasionally, infection may be present with a slightly lower colony-forming unit count of a single organism.

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How are UTIs treated? - encourage fluid intake (promotes urinary flow) - uncomplicated UTI: oral cephalexin, or cefixime x 7d - complicated UTI (acutely ill, <2-3 months, vomiting, immunocompromised): admit for hydration, IV ampicillin and aminoglycoside - prophylaxis: TMP-SMX for higher grades of VUR, awaiting investigations and/or >3 UTis/yr; trimethoprim alone if <2 mos - follow-up o if no clinical response within 48 hr re-culture urine

If UTI is diagnosed, what 2 further workups are required? 1. A renal ultrasound for young children and for girls with recurrent UTIs. Consideration of a VCUG to assess for reflux is indicated for young children and for girls with recurrent UTIs. Reflux may predispose to ascending infection and pyelonephritis. If VUR is present, antibiotic prophylaxis may be needed for as long as the reflux persists or until surgical correction is undertaken. 2. A follow-up urine culture should be obtained after treatment to confirm that the UTI is cleared.

DIABETES INSIPIDUS

What is central DI? Loss of ADH secretion, resulting in the inability to concentrate urine appropriately despite normal renal function

List 3 consequences. Increased urine output, hypernatremia, and dehydration

List 8 common etiologic factors. Idiopathic, posttraumatic, postsurgical, congenital malformation, intracranial tumors, CNS infections, histiocytosis, granulomatous disease

What are the 4 signs or symptoms? Polyuria, polydipsia, weight loss, growth failure; patients generally prefer water to other fluids.

What signs may indicate that DI is secondary to a tumor? Neurologic or visual complaints

List 3 diagnostic laboratory results. Morning urine specific gravity <1.010; low urine osmolarity; normal-to-high serum sodium concentration

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What is the water deprivation test? The test is designed to assess urinary response to water deprivation. An initial water load of 500 mL/m2 is given. Measurements are taken of: 1. Hourly body weight and urine output 2. Urine specific gravity and osmolarity of each sample 3. Serum sodium and osmolarity every 4 hours Desmopressin (dDAVP), a long-acting analog of ADH, is given at the end of the test to document responsiveness to ADH

List 4 indications of a positive test. Persistence of dilute urine with osmolarity less than that of plasma; a rise in serum sodium to >145 mEq/L; a rise of serum osmolarity to >290 mOsm/kg; weight loss of 3–5%

What 2 radiographic tests should be ordered? 1. Skull radiograph investigating for calcification, enlargement of the sella turcica, erosion of the clinoid processes, or increased width of the suture lines 2. An MRI to detect lesions of the pituitary gland and hypothalamic neurohypophyseal tract

What is the treatment? Desmopressin (dDAVP) once or twice daily

What is the differential diagnosis? Nephrogenic DI; psychogenic water drinking; impaired thirst mechanism

NEPHROGENIC DI:

What is the difference between nephrogenic and central DI? Patients with nephrogenic DI synthesize and secrete adequate ADH, whereas patients with central DI do not.

What is the primary defect in nephrogenic DI? Lack of distal tubular response to ADH, with inability to concentrate the urine

What is the etiologic factor in primary nephrogenic DI? Primary nephrogenic DI is a rare X-linked recessive disorder with profound effects in males, although females may be mildly affected. In most families, the defect is caused by a mutation in the vasopressin receptor. Autosomal dominant and recessive DI have also been described in which aquaporin 2 (the renal water channel) is defective.

List 4 etiologic factors in secondary nephrogenic DI. Secondary nephrogenic DI is more common and often less severe than primary DI. Causes include obstructive uropathy, chronic renal failure, sickle cell disease, and drug toxicity.

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How does a patient present? In the more severe forms, signs appear within the first weeks of life, usually including polyuria, polydipsia, failure to thrive, and chronic dehydration. The degree of dehydration is commonly underappreciated because the child continues to urinate. Fever, irritability, and poor feeding are also common.

What are the characteristic laboratory findings? Hypernatremia, hyperchloremia, urine osmolarity < 200 mOsm/kg in the presence of serum osmolarity > 300 mOsm/kg. ADH levels are normal, and there is no response to exogenously administered vasopressin.

List 3 treatments. 1. Maintenance of adequate fluid intake (most important) 2. Although somewhat counterintuitive, thiazide diuretics decrease urine output by causing mild sodium depletion, thereby encouraging proximal tubular sodium and water reabsorption. 3. Prostaglandin synthesis inhibitors may decrease urine output (mechanism of action is unclear).

HYPERTENSION

What defines hypertension in the pediatric population? BP increases with age: Significant hypertension is defined as BP greater than the 95th percentile for age, sex, and height. Severe hypertension is BP greater than the 99th percentile

95th Percentile Blood Pressures (mmHg):

What is the appropriate size for a child’s BP cuff? The cuff bladder width should be large enough to cover two-thirds of the upper arm length. Bladder length should be long enough to surround the entire arm circumference. Cuffs that are too small give erroneously high readings, and cuffs that are too large may give erroneously low readings.

How is the diagnosis of essential hypertension made? By exclusion of secondary causes by exclusion of secondary causes

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What is the Etiology of Childhood Hypertension by Age Group?

What should evaluation include? - labs o urine dipstick for blood and protein (suggests renal disease) o urine catecholamines and their metabolites (may suggest pheochromocytoma) o electrolytes, creatinine, catecholamines, renin, aldosterone - imaging o echocardiography o abdominal U/S o Nuclear scans, doppler studies, arteriography, or both for diagnosis of renal artery stenosis may be needed

What medications are used to treat chronic hypertension in children? Essentially all forms of antihypertensives may be used if monitored appropriately.

When are diuretics used? For patients with underlying renal disease and fluid overload, diuretics are often used in conjunction with other medications.

What is the management? - treat underlying cause - weight reduction, reduction in salt intake, exercise - first line antihypertensives are thiazide diuretics, but none of the antihypertensives have been - formally studied in children - referral to specialist - medications used in hypertensive emergencies: hydralazine, labetalol, sodium nitroprusside - assessment and management of end organ damage (e.g. retinopathy, L VH)

86 Nervous system [CHAPTER 7]

Chapter 7

NERVOUS SYSTEM

History of common Important topics: symptoms: Cerebral palsy Headache Seizure Seizure Abnormal head size or shape + hydrocephalus Neurological examination Guillain-barré syndrome Meningitis

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History of common symptoms

Headache:  Age of onset and duration  rate of onset (gradual or sudden)  Site (retro-orbital, temporal, suboccipital, bilateral or unilateral)  Radiation  Character (dull, band-like, sharp, throbbing),  Severity (Does the headache interferes with normal activity or causes the child to stop playing? Awakening from sleep; analgesic use?)  Continuous or intermittent  Frequency, and the duration of each episode.  Progressed or constant  Daily pattern  Aggravating and relieving factor (Relief by analgesics or sleep. Exacerbation by light or sounds, straining, exercising, or changing position. Exacerbation by foods (cheese), emotional upset, menses)  Associated symptoms: Numbness, weakness, diplopia, photophobia, fever, nasal discharge (sinusitis), neck stiffness (meningitis)

. Aura or Prodrome: Visual scotomata, blurred vision; nausea, vomiting, sensory disturbances

Differential Diagnosis of headache: Acute Recurrent Headache Chronic Nonprogressive Headache Chronic Progressive Headache - Cluster headache - Tension-type headache - Central nervous system infection - Acute sinusitis - Chronic sinusitis - Hydrocephalus - Hypertension - Ocular disorder - Pseudotumor cerebri - Intermittent hydrocephalus - Dental abscess - Brain tumor - Vascular malformation - temporomandibular joint - Vascular malformation - Subarachnoid hemorrhage syndrome - Subdural hematoma - Carbon monoxide poisoning - Postlumbar puncture - Arnold-Chiari malformation - Posttraumatic headache - Lead poisoning

The differentiation of dangerous versus benign causes: Benign Dangerous Migraine Meningitis Tension headaches Encephalitis Sinusitis Hemorrhage Non-meningeal infections Space occupying lesions Minor Trauma Vasculitis Cluster Headaches Shunt Blockages

Red flag signs include: worst headache of their lives, acute onset, Focal neurological deficits, constitutional symptoms, Worse in morning, Worse with bending over, coughing, Change in level of consciousness

Laboratory Evaluation: Electrolytes, ESR. CBC with differential, INR/PTT, MRI scans. A spinal tap/ lumbar puncture is mandatory in a febrile patient with headache who has nuchal rigidity

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Seizure:  Onset, duration, and does it preceded by aura or not.  Type (ask the patient to describe it): localized or generalized.  Frequency, severity, and how long it persists.  Comes with loss of consciousness, tongue pitting or incontinence of urine or feces.  How long it takes until the patient recover.  post-ictal weakness or paralysis, injuries  Progress or constant.  Daily pattern.  Warning signs, triggers for the spells (crying, anger, boredom, anxiety, fever, trauma)  Aggravating and relieving factors.  Associated symptoms: headache, nausea and vomiting.  Does he speak during the spell?  Does the child remember the spells afterward?  What is the child like after the episode (confused, alert)?

Differential Diagnosis of Seizures, Spells, and Unusual Movements

- Epilepsy - Choreoathetosis - Movement disorders o Benign - Tics o Familial o Myoclonic syndromes o Paroxysmal o Sleep o Sydenham chorea o Benign o Huntington chorea o Hyperexplexia (exaggerated startle o Drugs o response) - Behavioral/Psychiatric Disorders o Myoclonus-opsoclonus - Pseudoseizures - Shuddering spells - Automatisms - Dystonia - Dyscontrol syndrome o Torsion - Attention-deficit hyperactivity disorder o Transient torticollis - Benign paroxysmal vertigo o Sandifer syndrome - Migraine o Drugs - Parasomnias o Dyskinesias - Syncope o Metabolic/genetic - Breathholding spells o Reflex dystrophy o Nocturnal o Physiologic

Laboratory Evaluation: Glucose, electrolytes, CBC, urine toxicology, anticonvulsant levels, RPR/VDRL, EEG, MRI, lumbar puncture is indicated in: o Infants <12months with a first time febrile seizure to rule out meningitis o Infants 12 to 18 months with a simple febrile seizure o Any child with meningeal signs

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Neurological examination

Organization of the nervous system examination:

1. Vital signs 5. Cranial nerves examination 2. Anthropometric measurements 6. Motor examination 3. General examination 7. Cerebellar examination 4. Mental status examination 8. Sensory examination

1) VITAL SIGNS:  Temperature: o High temperature or hypothermia may indicate CNS infection  Blood pressure & pulse: o Should be measure in the supine & standing positions to assess postural drop as in patient with vasovagal syncope o High blood pressure & bradycardia indicate intracranial pressure  Respiration pattern: o Cheyne-Stokes breathing indicates bihemispheric dysfunction o Central hyperventilation is produced by lesions in lower midbrain or upper pone

2) ANTHROPOMETRIC MEASUREMENTS:  Wight, height and head circumference should be measured and plotted on age appropriate percentile charts.  The distinction between large head (macrocephaly) & large brain (megalencephaly) is important  Short & tall stature, as well as, under or overweight may be associated with certain disorders or syndromes that may have neurological features

3) GENERAL EXAMINATION:  Skin exam is important as the skin & the nervous system have the same embryologic origin. therefore, developmental CNS disorders may have skin signs  Examination of skull for shape, fontanel size & tenseness, sutures for premature fusion or wide separation & sinus tenderness are important  Examination of the spine for deformities (scoliosis, lordosis, gibbus) or midline lesions (defect, hair tuft or lipoma) may indicate an underlying spinal dysraphism  Assess the patient for Dysmorphic features (face, mouth, palate, hands and feet)

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 Examination for meningeal irritation signs. May indicate meningitis, subarachnoid hemorrhage & other disorders. The signs of meningeal irritation: o Neck stiffness: start by active movement. Ask the child to flex his neck as fully as he can & then proceed to passive flexion o Kernig's sign: with child lying flat on the bed, flex the hip fully & then try to extend the knee slowly. Positive response if there pain or resistance to knee straightening in the neck or back o Brudzinski's sign: flex the neck of the child while observing the hip & knee. It's positive if flexion of the neck results in hip & knee flexion with pain on the back of neck

4) MENTAL STATUS EXAMINATION:  this is screening test that includes a series of questions & commands to assess various higher cortical functions including orientation, registration, attention, calculation, recall and language (total score of 30)

Examination item Score Orientation to time, date, day, month & year 1 point each Orientation to place (ward, hospital, district, city & country 1 point each Registration (name 3 objects & ask the patient to repeat) 1 point each Attention & calculation (subtract 7s from 100) 5 points Recall (repeat the 3 objects named in registration) 1 point each Language: Name: - 2 objects (e.g. pen & watch) 1 point each - Repeat a sentence 1 point - 3 step verbal command 1 point each - 1 step written command 1 point - Write a sentence 1 point Draw intersecting pentagons 1 point

 Cognitive impairment is considered if the total score is less than 23  The following are examples on how to inquire about these functions in children: A. Orientation (frontal lobe function) o What is your name? Do you go to school? Which grade? o Is your age? What is your address? o Where are you now? What is the time, day, date, and month? o Ask younger child to point to his nose, eyes, ear or ask what this?

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B. Attention (frontal lobe function) o Young children & infants can be assessed by observing their interest to the surrounding, attention & social contact o Forward & backward digits span: say to child 5 6 7 then ask him to repeat forward & backward i.e. 7 6 5 C. Thought (frontal lobe function) o Difference between tow objects such as chair/ table, shirt/ trousers D. Memory (temporal lobe function) o Immediate recall: give the child name of 3 object & ask him to repeat them o Short term memory: give the child a name of 3 objects (e.g. pen, chair, apple) to remember at the beginning of the interview & then ask him to repeat them at the end o Long term memory: ask the child about his address, date of birth & names & ages of his siblings E. Calculation (dominant parietal lobe function) o Serial (threes): subtract3 out of 10 then 3 out of the remaining o Multiplying (threes): what is 2 x 3 & what is 2 x the outcome F. Spatial (parietal – posterior temporal – occipital lobe functions) o Clock face: draw a clock face & ask the child to fill the hands on a given time o Pentagon: draw a five parted star, diamond or square G. Visual & body perception (parietal – posterior temporal – occipital lobe functions) o Agnosia: inability to perceive the sensation despite normal sensory pathway o Ask the child to show you his index finger or thumb (finger Agnosia if he can't) o Ask the child to put his right hand on his left ear (body Agnosia if he can't) o Most normal children can identify right & left sidedness in their own body by 6 years & on others body by 9 years o All of these testing rely on intact speech

5) CRANIAL NERVES:

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 Olfactory nerve (I): o Ask the child to close his eyes & say yes if he smells anything new (using familiar odors e.g. vanilla, coffee, orange). Each nostril should be examined separately o Hyposmia: reduced smell. Or Anosmia: complete loss of smell, it may be uni or bilateral

 Optic nerve (II): 1. Visual acuity: 0 – 5 months 6 – 18 months - Fixate on the mother face & follow a bright object - Near vision: assessed by ability of the child to (e.g. pen torch). Follow moving object horizontally fix on small objects e.g. smartie or raisin at distance 100 cm away - Distant vision: to fix on small object at 3 m 1 1 /2 – 3 years 3 – 5 years - Near vision: assessed by ability of the child to fix - Near vision/ distant vision: use Sheridan- on small objects e.g. smartie or raisin Gardiner test (letter matching test) or picture - Distant vision: assessed by Sheridan-Gardiner test book for assessing both near & distant vision at 30 cm, then 3 m or picture book method 6 years & above - Snellen chart should be used. The child should read the chart from a distance 6 m (20 feet) - Pocketsize charts held at 14 inches from the patient's eyes (if wall charts are not available) - The child wearing his glasses, test each eye separately with adequate illumination - If the child cannot read the largest letter, use finger counting & hand motion detection

2. Visual field: Old cooperative child Young uncooperative child Set in front of the child so that your head should be at Move a red ball or torchlight in the visual field from the same level with his head. Instruct him to look at behind to front to see if it attracts his attention. your nose & not move his head. Examine each eye N.B. slapping maneuver: wave by your hand as if separately. Now take your hand to the periphery of you are going to slap him is unreliable as the visual field with index finger extended, and then tell current air may act as stimulus for blinking the child that you are going flicker your finger & ask him to tell you when he can detect it. Repeated at different points in the perimeter of the field

3. Papillary reactions: o Reaction to light: ask the child to look away from the major source of light in the room & then shine a flash light (pen torch) on the pupil from the side of the eye. Both the pupil on the same side (direct light reflex) as well as the opposite side (consensual light reflex) well constrict (repeat from the other side). Remember that the afferent limb is 2nd & efferent is 3rd cranial nerve o Reaction to accommodation reflex: ask the child to look at a distant object, then ask him to focus on a finger held close to his nose, the eyes converge & the pupils constrict attempting to look at a close object

4. Fundoscopy: to examine the optic disc & retina and should be left at the end

5. Color vision: deficiency is commoner in boys (X linked recessive). The test can be done at 8 years of age by the ophthalmologist

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 Oculomotor, Trochlear & Abducens nerves (III, IV, VI): o All muscles are supplied by Oculomotor except superior oblique (Trochlear) & lateral rectus (abducens) o Items to evaluate: 1) position of the eyes at rest (squint). 2) Conjugate eye movements. 3) Eye movement in relation to head & body movements. o Instructions: Older child Infant/ young child Ask the child to follow an object (e.g. your finger) Attract the attention of the child by a small toy & in different direction & then ask him how many move it in vertical, horizontal & oblique direction fingers or objects he has seen (diplopia)

 Trigeminal nerve (V): o Motor component: Older child Infant/ young child Ask the child to open & close his mouth, if one Put a wooden spatula in the child's mouth & let side is paralyzed the jaw will be deviated to the him bite it. With normal pterygoids he will resist paralyzed side. Ask the child to clench his teeth, its removal. Or offer a nipple or bottle & observe then palpate for masseter & temporalis muscles for sucking Jaw reflex Ask the child to open his mouth a little, place your forefinger over the chin & then tap your forefinger in a downward direction with a tendon hammer. Normally there is a weak or absent jerks of the jaw

o Sensory component: Older child Neonate & infant Touch the face in 3 different regions with a wisp Elicit rooting reflex, glabellar reflex of cotton over the forehead (ophthalmic), cheeks (maxillary), and chin (mandibular). Ask the child to close his eyes & say yes if he feels the touch Corneal reflex (particularly in patients with disturbed level of consciousness) Older child Infant/ young child Ask the child to look in one direction & approach Blow air gently & observe for eye blink the cornea from the opposite side with a wisp of cotton, observe for the blink

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 Facial nerve (VII): o Observation: - Facial asymmetry (absence of frontal wrinkles) - Open eye (widened palpebral) - Flattening of nasolabial folds - Deviation of the angle of mouth (drooping)

o Instruction: Older child Infant/ young child Ask the child to: - Raise his eyebrows (occipito – No particular maneuver is used just observe the frontalis muscle). – Close his eyes tightly while child's face while he is crying or laughing. you are trying to open them (orbicularis oculi). Lower motor neuron lesion tends to equally – Smile or to show his teeth (levator labii muscle) involve upper & lower facial muscles while upper – Whistle (orbicularis oris). Puff out his cheeks & motor neuron lesion affects the movements of to keep them out while you are tapping with the lower part of the face your finger over both cheeks (buccinators)

o Sensory: (chorda tympani supplies taste to the anterior two-thirds of the tongue) - Examination of taste is hard to perform & not usually recommended - Older cooperative child: placing solution of saline or glucose on one side of protruded tongue

 Vestibulocochlear nerve (VIII): Cochlear division Vestibular division Test for hearing according to age: It's usually tested along with cerebellar function in - Neonate: startle or quieted to a loud stimulus order to assess balance & gait. - 6 – 8 months: distraction test Clue to vestibular dysfunction: - Jerky nystagmus - - Older child: Audiometry, Rinne's test, Weber's Disturbed balance & posture. – Nausea & vomiting tests with change of position. – Caloric stimulation test.

 Glossopharyngeal & Vagus nerves (IX, X): o Older child: talk to the child to comment on his voice (hoarseness voice) then ask him to cough (bovine cough). Ask the child to open his mouth & observe the movement of uvula during phonation, unilateral nerve palsy causes deviation of uvula to the normal side o Palatal reflex: touch the child's soft palate with tongue depressor; it will lead to elevation of soft palate & retraction of uvula o Gag reflex: touch the child pharyngeal wall with spatula; it will stimulate gagging (elevation of pharynx & tongue retraction). This reflex should not be elicited in a conscious

 Spinal accessory nerve (XI): Older child Infant/ young child Ask the child to shrug his shoulder (trapezius) any Let the mother throw a toy beside him while he is weakness result in ipsilateral dropping of the looking at it, feel the sternocleidomastoid muscle shoulder. Put your hand on the medial side of the of opposite side or let his mother call his name & child jaw & ask him to push against your hand when he turns his head to her feel the while you are palpating the opposite sternocleidomastoid muscle of opposite side sternocleidomastoid muscles. Put your hand on the forehead of the child & ask him to flex his head forward against the resistance of your hand compare the 2 sternocleidomastoid muscles

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 Hypoglossal nerve (XII): o Look at the child tongue, while inside the mouth observe for size, position wasting, fasciculation (sign of lower motor neuron lesion) o Ask the child to stick his tongue out, observe for any deviation to either side o Ask the child to push by his tongue against tongue blade (on each side)

6) MOTOR SYSTEM:

1. Inspection (posture, gait, muscle bulk, involuntary movement)

 Muscle bulk: notice the presence of atrophy or hypertrophy & whether it is generalized/ localized, proximal / distal & symmetrical / asymmetrical

 Involuntary movements: Chorea Athetosis Rapid, jerky, intermittent, random, non-stereotypic, Slow, continuous, writhing movements of the dancing movements that usually affects the proximal extremities & face, particularly the proximal parts, extremities & face usually combined with chorea (choreoathetosis) Tic Tremor Complex repetitive movements. Usually affect eye Rhythmical alternating movements, it can affect muscles, facial muscles, upper limbs the hands or neck & head (titubation) Myoclonus Dystonia Sudden, quick, jerky (shock-like) movement of limb Slow, quick, continuous contraction of both agonist due to contraction of a group of muscles & antagonist muscles (e.g. writer's cramp) Fasciculation Rapid involuntary contraction of one or more muscle fiber, which leaves furrows on the skin overlying it

2. Palpation (tone, power)  Muscle tone: o The resistance in the muscle to passive movement. Testing the tone: start by observing the position of the limbs Upper limbs Lower limbs - Shake test: (test for range of movements around the - Shake test: hold both legs of the child & shake joint) hold both wrists of the child hand & quickly both feet to & fro around the ankle joints, watch shake his hands to & fro around wrist joints. Which how freely the feet waggle how freely the hands waggle - Resistance to passive stretch around the joints: - Resistance to passive stretch around the joints: - Ankle: dorsiflexion / planter flexion, - Wrist: flexion / extension inversion / eversion - Elbow: flexion / extension, supination / - Knee: flexion / extension, popliteal angle pronation - Hip: abduction / adduction, flexion / - Shoulder: flexion / extension, abduction / extension, internal rotation / external adduction, internal rotation / external rotation rotation - Comment on the tone: whether it normal or - Palpation of the muscle for floppiness & consistency decreased (hypotonia) or increased (hypertonia) which is either spasticity or rigidity

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 Muscle power: o Grades of power (MRC grades): 0 No movement (complete paralysis) 1 flickering (trying to move but there is no movement) 2 Movement with gravity 3 Movement against gravity 4 Movement against gravity & resistance 5 Normal movement

o Upper limbs: Older child Infant/ young child - Ask the child to abduct his arms then ask him to - It's difficult to perform formal test for muscle push his elbow away from his body while you are power. However some maneuvers can be used: pushing against it (shoulder abduction C5), then - Shoulder girdle muscles: during vertical ask him to push his elbow into his body while you suspension of the child observe for slipping are pushing against it (shoulder adduction C7) through the hands. If no slipping suggests - bend his arm (45o) then ask him to flex his forearm strong shoulder flexors & adductors, offer while you are pushing against it (elbow flexion object (toy) above the level of the child's head C5,6), then ask him to extend his forearm while & let him to pick it or let him to throw a ball you are pushing against it (elbow extension C7,8) - Elbow flexors group: while pulling the infant up - Ask the child to make a fist (C8) from supine to sitting position, observe for - Extend & flex his wrist while you are pushing flexion at the elbow with resistance to pull against it (wrist flexors & extensor C6, 7) suggests strong biceps muscle - Spread out his fingers (interossei muscle T1), then - Hand grip muscles: offer an object or put it in to bring his fingers together (lumbricals T1) the child hand & observe how the child grips it

o Lower limbs: Older child Infant/ young child - Ask the child to left one leg straight off the bed - If the child is moving his limb spontaneously, it while you are pushing down against him (hip suggests that the muscle power of the limb is flexion L1, 2), then ask him to press the leg straight grade 3 or more down into the bed while you are pulling up against - Put the lower limb of the child in a position of him (hip extension L5, S1) flexion & adduction at hip joint with flexion at - Ask him to bend his knee while you are pushing the knee joint & observe if the child can hold against it (knee extension L3, 4), then ask him to his leg in this position or not. holding in this keep his knee at right angle & to flex his knee fully position suggests strong hip flexors & while you are pulling against him (knee flexion S1) adductors - Place your hand on the dorsum of the child foot & - Hold the child's thigh & tickle the child at the ask him to his foot toward him while you pushing sternum or axilla to see if he can flex or extend against him (ankle dorsiflexion S1, 2) his knee (suggests normal knee flexors - Place your hand on the dorsum of the child foot & /extensors) ask him to push down while you are pulling - Hold the child's leg & tickle him, to assess the against it (ankle planter flexion L4) movement around the ankle - Ask him to bend his big toe up & down against - N.B. you can apply resistance to the limb while resistance (L5) it is moving to assess power

o Shoulder girdle: ask the child to comb his hair or to throw a ball or to lift his hands up

o Pelvic girdle: ask the child to walk, to run, to hop, to jump, to get up from sitting or equating position, to climb stairs, demonstrate the Gower's sign, Trendelenburg's sign

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o Trunk muscles: Older child Infant/ young child - Ask him to sit up from supine position with hands - Observe the child while he is sitting from supine folded across the chest, ability to sit without aid position then observe him pivoting suggests trunk muscles (inability to do mean - While the child is sitting with his head central weakness of T1-12) give sideways push & watch if he falls sideways or depend on his hands for lateral support

o Examination of the back is important in assessing the lower limb o Start the examination of the lower limb by gait assessment if the child's condition permits

3. Percussion (reflexes):  Make sure that you exposed the target muscle & you should know the reflex roots  If the reflex did not appear properly apply reinforcement maneuvers: o Upper limb reflex: ask patient to close his eyes firmly o Lower limb reflex: ask patient to pull one hand against the other  The patient must be relaxed & properly positioned  Grades of muscle reflex: 0 absent 1 reduced reflex (present) 2 normal 3 exaggerated 4 exaggerated with clonus (pathological hyperreflexia)

Reflexes of the upper limb:  Biceps reflex: (musculocutaneous, C5,6)  Triceps reflex: (radial nerve, C6, 7, 8)  Brachioradialis (supinator) reflex: (radial nerve, C5, 6)

Reflexes of the lower limb:

 Knee reflex: (femoral nerve, L2, 3, 4)  Ankle reflex: (sciatic / tibial nerve, S1, 2)  Plantar reflex: (L4, S1)

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7) CEREBELLUM & COORDINATION: Upper limp:  Older child: o Finger-nose test: ask the child to place the tip of the index on his own nose starting from full abduction of the arm with eyes open, then eyes closed. Observe for intention tremor & dysmetria (overshooting) o Finger to finger nose test: hold your finger at arm's length in front of the child, ask him to touch your finger with his index finger then touch his nose, move the target finger (your finger) in different directions, ask him for repeat faster if he did it correctly o Dysdiadochokinesia: ask the child to put one hand on the back of the other quickly & regularly (always demonstrate for the child), then ask him to tap the back of his right hand alternately with the palm of his left hand & vice versa, also ask him to rapidly supinate & pronate his hands together: observe for symmetry & regularity. Ask the child to do the following: - To mimic playing piano - To touch the finger of the hand alternatively with thump of the same hand - To button a shirt - To write his name  Infant & younger child: offer a toy & observe the child's approach looking for dysmetria or intention tremor, offer cubes & observe him while building them, also ask him to put a pen into a pen-top held by you

Lower limp: o Heel-shin test: on lying down position, ask the child to place his heel on the opposite knee & then run it downwards over the shin of the tibia to the foot o Toe finger test: ask the child to left his big toe & touch your finger with it o Gait: ask the child to walk (unsteady gait) & to hop (if he is older than 4y) o Tandom-walk test: ask him to walk on straight line with heel to forefoot for a distance >8 steps

Trunk: Older child Younger child Ask him to sit up with hands folded across his chest, While the child is sitting observe for swaying when he sits up give sideways push to see if he falls movement of trunk, nodding & bobbing of head, then sideways or not move an interesting toy around 180o & see if the child is unable to turn to the toy except by supporting himself on his hands

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8) SENSORY SYSTEM: Deep sensation Sense of movement (joint position) Vibration sense - Upper limbs: hold the middle phalanx of the child's - It's difficult & unlikely to give more information index finger by side, then flex & extend the distal than the joint position sense phalanx telling the child which direction you mean by up & down, then repeat it with his eyes closed - Lower limbs: use the same idea with the big toe holding terminal phalanx by the sides Superficial sensation Light touch Pain sensation Temperature sensation Touch the skin lightly with a wisp A similar approach is used with stimulus Use two tubes of cold & warm of cotton. Then ask him to say yes being the tip of a pin, the child should water, touch the child with one of the tubes & ask him to tell if he feel it with his eyes closed be respond by saying "sharp" or "dull" you if it's cold or warm Cortical sensation - Astereognosis: failure to recognize familiar objects - 2 point discrimination: ability to identify 2 points when put on hand while closed eyes applied simultaneously to the dorsum of the foot - Agraphesthesia: failure to recognize numbers & or pulp of the finger. Approximate the two points letters when written in the palm while the eyes together until he perceives them as one point closed - Tactile localization: inability to recognize the point of touch with closed eyes

Distribution of dermatomes:

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Important topics

CEREBRAL PALSY (CP)

What is it? A non progressive movement and posture disorder as a result of brain injury or malformation that occurs early in development. It is not an etiologic diagnosis but a clinical syndrome (a manifestation of static encephalopathy) that refers only to motor disability

What are some causes? Prenatal Cerebral malformation, congenital infection, asphyxia, microcephaly, prematurity Perinatal Asphyxia, birth injury, trauma, infection Postnatal Kernicterus, trauma, meningitis, encephalitis, status epilepticus and asphyxia

What is the Clinical Presentation? Type % of Total CP Characteristics Area of Brain Involved Spastic 70-80% Truncal hypotonia in 1st year UMN of pyramidal Increased tone, increased reflexes, tract clonus Diplegia associated Affects one limb {monoplegia). with pariventricular one side of body (hemiplegia) leukomalacia {PVL) in both legs (diplegia), both arms & premature babies legs (quadriplegia) Quadriplegia associated with HIE {asphyxia}, associated with higher incidence of MR Athetoid/Dyslkinetic 10-15% Athetosis {involuntary writhing Basal ganglia {may be movements) ± chorea {involuntary associated with jerky movements) kemictenus) Can involve face, tongue (results in dysarthria) Ataxic <5% Poor coordination, poor balance Cerebellum {wide based gait) Can have intention tremor Atanic <5% Marked hypotonia, hyperreflexia, severe cognitive delay Mixed 10-15% More than one of the above motor patterns

What are other Signs? - swallowing incoordination - aspiration - microcephaly (25%) - seizures - mental retardation, learning disabilities - delay in motor milestones

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How is the diagnosis made? Clinical history and physical examination. Laboratory and imaging tests are often needed to confirm suspected brain injury (e.g., porencephalic cyst), to rule out a progressive or degenerative neurologic process (e.g., astrocytoma, metachromatic leukodystrophy), or to define etiology (e.g., chromosome analysis).

What are some associated disabilities? Mental retardation, seizures, hearing or visual impairments, learning disabilities, attention deficits, dysphagia, malnutrition, poor growth, constipation, gastroesophageal reflux, and joint contractures and scoliosis

Does CP range in severity? Yes, from minimal, with little or no functional disability, to severe, with total dependence for mobility, self-care, and feeding

What are the investigations? May include metabolics, chromosome studies, serology, neuroimaging, EMG, EEG (if seizures), ophthalmology, audiology

What is the treatment? Treatment is supportive and geared toward maximizing functional abilities, managing concurrent medical problems, and preventing secondary disabilities. Many disciplines are involved (pediatrics, neurology, orthopedics, speech pathology, physical and occupational therapy, special education, psychology, audiology, and orthotics).

SEIZURE

What is a seizure? Clinical manifestation of a paroxysmal event arising from synchronized electrical discharges of CNS neurons within cerebral gray matter that interferes with normal brain function. Seizure may be epileptic or non-epileptic

What are the common pathologic causes? epileptic non-epileptic - idiopathic (70-80%) – cause unknown but - febrile seizures presumed genetic - metabolic: - secondary: o hypoglycaemia o cerebral dysgenesis/malformation o hypocalcaemia/ hypomagnesaemia o cerebral vascular occlusion o hypo/hypernatraemia o cerebral damage, e.g. congenital - head trauma infection,intravascular haemorrhage - meningitis/encephalitis - cerebral tumor - poisons/toxins - neurodegenerative disorders - neurocutaneous syndromes

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What is epilepsy? It's a chronic neurological disorder characterized by recurrent unprovoked seizure, consisting of transient signs/symptoms associated with abnormal, excessive or synchronous neuronal activity in the brain

How is epilepsy seizures classified?

Name 4 other conditions that may mimic seizures Breath-holding spells, reflux esophagitis (Sandifer syndrome), cardiogenic syncope, pseudoseizures

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What are the physiologic results of…? brief seizures (seconds to a few minutes) prolonged seizures (>30 minutes) It is believed that brief seizures do not harm brain They may cause direct injury to the brain tissue tissue, but the child may sustain secondary injury through electrolyte shifts, increased cerebral (e.g., may spirate, strike head, drown, become blood flow, and elevated ICP hypothermic) through loss of protective reflexes

Are seizures dangerous? Not necessarily. Prolonged seizures may cause damage through hypoxia, hypoglycemia, and other mechanisms, but the main danger is the underlying cause of the seizure or the accidents that may occur during the seizure

What is the main goal of treatment? Stopping seizure activity rapidly without compromising the patient

List 3 immediate priorities in caring for a child who is having a seizure. 1. Evaluate and support airway and breathing. 2. Obtain blood for chemistries (e.g., calcium, sodium, glucose), drug levels, and suspected toxins that may require immediate intervention. 3. Gain venous access

What is the treatment? - anticonvulsants often initiated if >2 unprovoked afebrile seizures within 6-12 months 1. Initiate (5–20 minutes after presentation): Administer anticonvulsants while monitoring cardiorespiratory status:Rapid-onset, short-acting agents (e.g., lorazepam). Be prepared to intubate the patient if respiratory depression occurs. Delayed-onset, long-acting agents (e.g., phenytoin, phenobarbital) 2. Optimize: start with one drug and increase dosage until seizures controlled 3. If no effect, switch over to another before adding a second anticonvulsant 4. Continue anticonvulsant treatment until patient free of seizures for 2 years or more. Then wean medications over 4-6 months - ketogenic diet (high fat diet) - used in patients who do not respond to polytherapy or who do not wish to take medication (valproic acid contraindicated in conjunction with ketogenic diet because may increase hepatotoxicity) - education for patient and parents o privileges and precautions in daily life (e.g. buddy system, showers instead of baths) - legal obligation to report to Ministry of Transportation if patient wishes to drive

What is a febrile seizure? Is a seizure accompanied by a fever in the absence of intracranial infection due to bacterial meningitis or viral encephalitis, most common cause of seizure in children (3-5% of all children, M> F from age 6 months to 6 years)

List 5 characteristics of…? simple febrile seizure complex febrile seizure 1. Generalized tonic-clonic 1. Lasts ≥15 minutes 2. Lasts <15 minutes 2. partial or focal seizures may occur 3. occurs in children 3 months to 5 years of age 3. multiple seizures in 1 day may occur 4. occurs on day 1 of illness with high fever 4. neurologic deficits or developmental delay may 5. there may be a family history of febrile be predispositions seizures 5. family history may include non-febrile seizures

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What is the management of febrile seizure? - counsel and reassure patient and parents (febrile seizures do not cause brain damage, very small risk of developing epilepsy: 9% in child with multiple risk factors; 2% in child with febrile simple seizures compared to 1% in general population) - antipyretics (e.g. acetaminophen) and fluids for comfort (neither prevent seizure) - prophylaxis not recommended - if high risk for recurrent or prolonged seizures, have rectal or sublingual lorazepam at home (danger of lorazepam is that it may hide signs of a CNS infection} - treat underlying cause of fever (e.g. otitis media)

What is a status epilepticus? This is a seizure lasting 30 minutes or longer or when successive seizures occur so frecuently that the patient dose not recovers consciousness between them

What is the management of status epilepticus?

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ABNORMAL HEAD SIZE OR SHAPE + HYDROCEPHALUS

What is the clinical approach to abnormal head size? - History: when did the parents observe abnormality of head size? Ask about the gestational age, history of trauma, symptoms suggestive of raised ICP, history suggestive of congenital infections, birth asphyxia, drug intake or X-ray exposure during pregnancy, history of encephalitis or meningitis & family history of small or large head

- Examination: 1) Inspection: - Local, comment on the shape & movements. Look for signs of hydrocephalus (large fontanels, presence of prominent scalp veins, sunset sign, shiny skin of the head - General, growth parameters (short in achndroplasia, tall in sotos syndrome). Examine the child's alertness & look for neurocutaneus stigmata & Dysmorphic features suggesting a particular syndromes 2) Palpation: - Palpate the head for sutures, ridges, fontanels & shunts 3) Auscultation: - Listen for bruit on temporal region, over the eye balls & retroauricular region. Then proceed to: o Eye examination: visual acuity, visual field, ocular movements, pupil, fundus , sunset signs, squint nystagmus o Back examination: spina bifida, scoliosis o Lower limbs examination: signs of UMNL e.g. hydrocephalus, LMNL e.g. spina bifida, leucodystrophy, cerebellar signs e.g. Dandy Walker cyst o Abdominal examination: for Hepatosplenomegaly (storage disease, mucopolysaccharidosis, congenital infections) - N.B in neurological evaluation of a child with large head start by lower limbs as their tracts are closer to the ventricles 4) Measurement: - Measure the head circumference (3 times) around the most prominent part of the head to get the maximum head circumference - Measure the head circumference of the parents - Plot on percentile chart (correct for prematurity in the first 2 years of life) - Always compare with previous head circumference & percentile charts

What is the average of normal head circumference?

- 35 cm at birth - 52 cm at 6 years - 47 cm at 12 month - 53 cm at 10 years - 49 cm at 2 years - 56 cm at adult - 50 cm at 3 years o Disorders of cranial size are either small head (microcephaly) or large head (macrocephaly) o Large head is defined as head size above two standard deviation of the normal (i.e., greater than 95th percentile), it could be due to big brain (megalencephaly) or bone disorder o small head is defined as head size below two standard deviation of the normal, it could be due to small brain (micrenencephaly) or craniosynostosis

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What are the causes of microcephaly?

Primary (congenital) Secondary (acquired) - Chromosomal (trisomy 18) - infections (e.g. TORCH), fetal alcohol - syndrome (aicardi syndrome, rubinstein syndrome, hypoxic ischemic encephalitis, syndrome, angleeman syndrome) meningitis, head injury, metabolic (e.g. - inherited (autosomal recessive, phenylketonuria), endocrine, (e.g. atosomal dominant, X-linked recessive) hypothyroidism)

What are the causes of macrocephaly? 1) Large skull: 4) Large brain: - Achondroplasia a) Generalized: - Rickets - Familial (autosomal dominant) - Osteogenesis imperfecta - Sotos syndrome - Chronic haemolytic anemia - Neurocutaneous syndrome - Cleidocranial dysostosis - Storage disease (lipidosis, 2) Large ventricles / subarachnoid spaces: mucopolysaccharidosis, - Hydrocephalus leucodystrophy) 3) Large bleed / chronic subdural haematoma: b) Localized: - Traumatic - Cerebral tumor - Post meningitis - Post meningitis

What are the abnormal shapes of the head? Scaphoccephaly (dolechocephaly) Brachycphaly Increased anterioposterior diameter due to Increased transverse diameter due to premature premature closure of sagital suture closure of both coronal sutures Plagiocephaly Trigonocephaly Asymmetrical head due to premature unilateral Narrow pointed forehead with hypotelorism due coronal or lambdoid suture closure to premature closure of metopic suture Oxycephaly (acrocephaly, turricephaly) High narrow tower shaped head due to premature closure of all sutures

What is hydrocephalus? There is obstruction to the flow of CSF, leading to dilatation of the ventricular system proximal to the site of obstruction

What are the 2 types of hydrocephalus? Communicating and non communicating or obstructive

What is the difference? Communicating hydrocephalus Non communicating hydrocephalus is caused by decreased absorption (obstruction at is caused by obstruction of CSF flow within the the arachnoid villi) or overproduction of CSF ventricular system or aqueduct

What is the most common congenital cause of hydrocephalus? Neural tube defects

What is X-linked hydrocephalus? A genetic form of hydrocephalus, usually affecting males, in which there is stenosis of the aqueduct of Sylvius. The gene is located on the X-chromosome.

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What are the causes of hydrocephalus? Communicating hydrocephalus Non communicating hydrocephalus - Subarachnoid haemorrhage - Congenital malformation - Meningitis, pneumococcal, tuberculous  Aqueduct stenosis  Atresia of the outflow foramina of the 4th ventricle (dandy-walker malformation)  Chiari malformation - Posterior fossa neoplasm or vascular malformation - Intraventricular haemorrhage in preterm infant

What are the clinical features of hydrocephalus? In infants with hydrocephalus, as their skull sutures have not fused: - The head circumference may be disproportionately large or show an excessive rate of growth - The skull sutures separate - The anterior fontanelle bulges & the scalp veins become distended - Fixed downward gaze or sun setting of the eyes Older children will develop signs & symptoms of raised intracranial pressure

How can hydrocephalus be diagnosed? By antenatal ultrasound screening or in preterm infants on routine cranial ultrasound scanning and in younger children with CT or MRI. Head circumference should be monitored over time on centile charts

What is the treatment? Treatment is required for symptomatic relief of raised intracranial pressure & to minimize the risk of neurological damage, the mainstay is the insertion of a ventriculoperitoneal shunt, but endoscopic treatment to create a ventriculostomy can now be performed

What are the complications of the shunts? Shunts can malfunction due to blockage or infections (usually with coagulase-negative staphylococci). They then need replacing or revising. Overdrainage of fluid can cause low- pressure headaches but the insertion of regulatory valves can help avoid this

Ventriculoperitoneal shunt for drainage of symptomatic hydrocephalus. A sufficient length of

shunt tubing is left in the peritoneal cavity to allow for the child's growth. Right atrial catheters require revision with growth

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How can you examine the shunt? 1. Inspection: look to the signs of increase intracranial pressure (ICP): - vomiting - fluid leaking from the shunt incision - large head sites - bulging "soft spot" (fontanelle) on - seizures the top of the head - noticeable scalp veins - seeming irritable (cries easily or - slowness at reaching milestones without reason) - "sunset" eyes - redness or puffiness of the skin on - Fever top of the shunt tubing and at incision 2. Palpitation: at the site of shunt for tenderness, temperature Also press on the shunt tube, if the fluid flows again after you remove your hand it is functioning, & the opposite is true 3. Auscultation: over the shunt to hear the flow of fluid 4. Measurement: of the head circumference

GUILLAIN-BARRÉ SYNDROME

What is it? An acute demyelination of peripheral nerves. It is an autoimmune syndrome and often follows a trivial viral infection

What are the 4 signs and symptoms? 1. Extremity weakness usually begins distally and extends proximally, progressing for several days. 2. Painful sensory complaints 3. Areflexia 4. Autonomic involvement (e.g., hypotension, arrhythmias) may occur and is dangerous

Which diagnostic studies may be helpful? CSF (elevated protein); electromyogram (EMG); nerve conduction velocity studies; pulmonary function tests (predict respiratory failure)

What is the differential diagnosis? Diphtheria-associated polyneuropathy; tick paralysis. The physician must avoid misdiagnosing early Guillain-Barré as a conversion reaction

What are the 4 treatments? General supportive care; plasma exchange (if symptoms are severe or rapidly progressing); IVIG; mechanical ventilation if required

What is the prognosis? Usually complete recovery

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MENINGITIS

What is it? Inflammation of the meninges

What are the common clinical findings? Fever, headache, stiff neck, changes in mental status, CSF leukocytosis

What are the 2 major classes of meningitis? Bacterial and aseptic (usually viral)

BACTERIAL MENINGITIS

How does a patient with bacterial meningitis present? Presentation is highly variable and age dependent

Neonates and infants Older children Nonspecific signs of serious illness include May have more classic meningeal signs, lethargy, irritability, poor feeding, tachypnea, including Kernig or Brudzinski signs (or both), jaundice, hypoglycemia, and vomiting. Child may headache, photophobia, vomiting, mental status be febrile, afebrile, or hypothermic. changes (e.g., lethargy, disorientation). Later signs: bulging fontanel, seizures, and poor Petechiae and purpura may be signs of a poor muscle tone prognosis

What are the 3 most common causative organisms? from birth to 1 month of age Group B streptococcus, Escherichia coli, Listeria monocytogenes 1–3 months of age Streptococcus pneumoniae, group B streptococcus, Haemophilus influenza type b 3 months to 3 years of age S. pneumoniae, Neisseria meningitidis, H. influenzae type b Children older than 3 years N. meningitidis, S. pneumoniae, H. influenzae type b

How is the diagnosis of bacterial meningitis made? Lumbar puncture (LP)

List 3 indications for LP. 1. Suspicion of meningitis 2. Administration of intrathecal medications 3. Any other need to evaluate CSF

List 4 contraindications to LP. 1. Evidence of increased ICP when positioning the patient for an LP (consider increased ICP in any patient with a brain mass or sign of brain swelling) 2. If positioning the patient for an LP would risk cardiopulmonary compromise 3. Infection of the skin overlying the site of an LP 4. Thrombocytopenia or coagulopathy

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List 4 studies that should be performed on a CSF specimen Culture and sensitivity, cell count, and glucose and protein concentrations

List 5 CSF findings that suggest bacterial meningitis 1. Gram stain: may show bacteria 2. Culture: will reveal specific organisms 3. Cell count: CSF leukocytosis (usually > 1,000/mm3) with predominance of polymorphonuclear neutrophil leukocytes (PMNs). Note, however, that the presence of any PMNs in CSF is abnormal 4. Glucose: relative hypoglycemia (< 60–70% of serum glucose) 5. Protein: elevated total protein *normal value of CSF: - Glucose:60% of blood glucose - protein: 10-40 mg/dl - WBCs: up to 5 lymphocytes - Gram stain: no bacteria - Latex test: negative - CSF culture: negative

List 3 issues that may cause difficulties in interpreting CSF findings. 1. “Bloody” spinal taps may confound both protein and WBC levels. 2. Previous treatment with antibiotics (e.g., amoxicillin for otitis) renders culture results inaccurate and may decrease WBC count. 3. Viral meningitis can have CSF profile similar to that of bacterial meningitis early in its course. A second LP may be necessary

List 3 other findings that are suggestive of meningitis 1. High peripheral WBC with left shift (Caution: WBC may be low.) 2. Thrombocytopenia with decrease in hematocrit (Hct) is suggestive of disseminated intravascular coagulation 3. Blood cultures may be positive

What is the common treatment for bacterial meningitis? Birth to 4 weeks of age Ampicillin and gentamicin 1–3 months of age Ampicillin and third-generation cephalosporin, consider vancomycin if suspicious for S. pneumoniae meningitis 3 months of age or Third-generation cephalosporin plus vancomycin (Note: Determination of older antibiotic sensitivities is essential. Treatment before culture should cover likely organisms in the patient’s age group and clinical setting.)

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What is the duration of treatment? It depends on the patient’s age, the causative organism, and the patient’s response to treatment. General guidelines:

H. influenzae type b and S. pneumoniae 10–14 days N. meningitidis 7 days Group B streptococcus 14 days E. coli 21 days after negative CSF culture

For meningitis caused by gram-negative organisms, an LP is often recommended at the end of treatment to determine that the CSF is free of the organisms.

What are some other components in the management of meningitis? 1. Fluid restriction to two-thirds maintenance (when intravascular volume is restored) may help prevent cerebral edema. 2. Monitor head circumference in infants. 3. Close monitoring of glucose, acidbase, and volume status and tissue oxygenation is essential.

Are steroids indicated? Steroids may decrease hearing loss in H. influenzae meningitis and morbidity with S. pneumoniae. Use varies among institutions. ONLY shown useful if given prior to initial antibiotic administration

List 16 complications of meningitis. Syndrome of inappropriate anti-diuretic hormone secretion, cerebral edema, toxic encephalopathy, brainstem herniation, cranial nerve palsies, deafness, seizures, subdural effusion, cerebral infarct, cortical vein thrombosis, disseminated intravascular coagulation, paresis, mental retardation, hydrocephalus, visual impairment, mental and motor delays

In what 2 groups of patients are complications most common? 1. Newborns with gram-negative infection 2. Patients with pneumococcal meningitis (up to 50% of patients experience complications)

What is the most common complication? Sensorineural hearing loss (up to 20% of patients with H. influenzae meningitis)

What 2 bacteria cause the highest mortality rate? S. pneumoniae and N. meningitides

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ASEPTIC MENINGITIS

What are the signs and symptoms of aseptic meningitis? Similar to those of bacterial meningitis: headache, vomiting, stiff neck, photophobia, fever, malaise, myalgia, gastrointestinal (GI) symptoms, rash, tachypnea

What is the clinical course? Usually more indolent than in bacterial meningitis. Classic meningeal signs may be absent. Mental status is usually unaffected, unless meningoencephalitis or increased ICP has developed. It is prudent to treat as if bacterial until culture results are available. Some viruses (e.g., herpesvirus, rabies, arbovirus) also cause encephalitis and its accompanying complications.

List 4 findings of the LP. 1. CSF pleocytosis is the hallmark, but usually at levels lower than those in bacterial meningitis (i.e., WBC > 100/mm3 and < 1,000/mm3). 2. CSF lymphocytosis, as shown by the differential, may show a higher percentage of neutrophils early in the course. 3. Glucose levels are normal or slightly decreased. 4. Protein levels are normal or slightly elevated. Other specific findings vary with etiologic factors

List 9 viral causes. Enteroviruses (e.g., coxsackievirus, echovirus) are the most common, especially in summer and early fall. Others include Epstein-Barr, mumps, influenza, herpesvirus, and adenoviruses, rarely rabies and arboviruses, and poliovirus in endemic areas or unimmunized populations.

How is it diagnosed? Many viruses can be cultured from the CSF. Enteroviruses can be cultured from stool, and PCR testing for enterovirus in the CSF is available. Influenza, mumps, and adenovirus may be cultured from the nasopharynx. Serum titers (acute and convalescent) may be helpful. Herpesvirus can be difficult to verify. CT, MRI, and EEG may be useful. How is viral meningitis treated? Primarily supportive. Dehydration and pain sometimes necessitate hospitalization. Acyclovir is used for herpes

What is the clinical course? Symptoms usually last 1–3 weeks. Headache may be severe

List 6 categories, with examples, of nonviral causes of aseptic meningitis. 1. Mycobacteria: Mycobacterium tuberculosis 2. Fungal: Cryptococcus neoformans and Coccidioides immitis are most common (should be considered in immunocompromised patients). 3. Rickettsia: Rocky Mountain spotted fever, Q fever, typhus, and Ehrlichia (this should be considered when tick bite or farm animal exposure is in a child’s history) 4. Spirochetes: leptospirosis, Lyme disease, syphilis 5. Parasites (very uncommon): Naegleria fowleri and Acanthamoeba (amebic meningitis); Toxoplasma gondii, cysticercosis, and trichinosis 6. Drugs: IV immunoglobulin (IVIG), nonsteroidal anti-inflammatory drugs (NSAIDs), trimethoprimsulfamethoxazole (TMP-SMZ), tacrolimus

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Chapter 8

Musculoskeletal system

History of common Important topics: symptoms: Rickets Joint pain congenital hip dislocation Joint swelling Septic arthriti Weakness Osteomyelitis Deformity Loss of function Stiffness Instability Limp

Musculoskeletal examination

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History of common symptoms

Joint pain:  Site and number of the affected joint(s); mono or poly  Onset and duration  Distribution: small or large joints  Radiation  Symmetry.  Additive, migratory or intermittent (important to mention the sequence) o Additive: affects one joint then affects another one in addition to the formal one o Intermittent: affects the same joint, but comes and goes o Migratory: affects one joint, and then leaves it to another one  Character (sharp, aching, deep, etc)  Severity  Continuous or intermittent.  Getting better or worse  Frequency, and the duration of each episode  Progressed or constant  Daily pattern (morning stiffness in juvenile rheumatoid arthritis, growing pain typically at night)  Interfere with function (rheumatic fever arthritis pain usually very painful)  Changes noted at the site of pain  Precipitating, aggravating and relieving factors  Associated symptoms

Differential Diagnosis of Limb Pain: Cause <3 years 3-10 years >10 years Trauma X X X infectious Septic arthritis X X X Osteomyelitis X X X lnflammatory transient synovitis X X JIA X X X Seronegative spondyloarthropathy X SlE X Dermatomyositis X HSP X Anatomic/Orthopaedic Legg-calve-perthes disease X X Slipped capital femoral epiphysis X Osgood-Schlatter disease X Neoplastic Leukemia X X X Neuroblastoma X X X Bone tumor X X Hematoloaic Hemophilia (hemarthosis) X X X Sickle cell anemia X X X Pain Syndromes Growing pains X X Fibromyalgia X Reflex sympathetic dystrophy X

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Joint swelling:  Number of joints, symmetrical/ asymmetrical, large/ small joints, sequence affected  When first noticed  Onset and duration  Extension  Continuous or intermittent  Progressed or constant  Precipitating, aggravating and relieving factors  Associated symptoms

Weakness:  When?  Continuous or intermittent.  Progression over the time.

Deformity:  When?  Which joint?  Type of deformity.  Progression.

Loss of function:  When and why?  What was done?

Stiffness:  Duration. - Less than 30 minutes in osteoarthritis (OA) - More than 1 hour in rheumatoid arthritis (RA)  Generalized or specific to certain joints  Number of joints, symmetrical/ asymmetrical, large/ small joints, sequence affected  Worse in morning (RA, other inflammatory)

Instability:  This is described by the patient as giving way or coming out.  It may be due to Joint dislocation or muscle weakness

Limp:  Bone pain.  Severe pain of sudden onset (vascular diseases)  Nerve entrapment  In amputated limb (phantom pain)

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Musculoskeletal examination

Inspection: General:  Fever  Hepatosplenomegaly  Pallor(anemia, malignancy)  Physical growth (JCA, malignancy, sickle cell anemia)  Skin rash  Muscle weakness (growth failure is seen in most  Nail pitting (psoriasis) chronic inflammatory disease of the MS system)  Lymphadenopathy  Eye involvement (JCA)

Local (it should be done at rest & during movement):  Number & distribution of the joint involvement (symmetry)  Joint swelling (fluid within a joint causes loss of normal contour i.e. bony landmark of joint)  Skin changes (erythema implies associated periarticular inflammation)  Deformity or contracture  Muscle wasting  Sinus formation, cautery marks

Palpation: (before touching the child you should explain to him what you are going to do)  Warmth  Tenderness (joint line/capsular tenderness signifies arthropathy, periarticular tenderness signifies enthesitis or bursitis)  Effusion  Synovial thickening (boggy swelling)  Crepitus (fine crepitus is due to inflammation of the tendon sheath, bursa or synovium, coarse crepitus reflects cartilage or bone damage)

Range of movements:  start by active movement then proceed to passive movement: o similar reduction of both movement  synovitis o passive movement greater than active movement  muscle/tendon/motor problem

Assessment of functional ability:  Assessed by observation during normal usage & activities of daily living  Don’t forget to assess the gait

1. Hand examination: Inspection:  Nails: o Pitting nails, ridging,onycholysis, hyperkeratosis: psoriasis. o Discoloration (Raynaud's phenomenon). o Digital infarction: scleroderma. o Splinter hemorrhage: SLE.

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 Skin: o Atrophy: chronicity. o Tightness: scleroderma. o Erythema: inflammation. o Scars: a) Rheumatoid nodule scar. b) Fasciotomy scar in carpal tunnel syndrome. o Rashes: psoriasis. o Discoloration.

 Muscle: o Wasting. o It results in the appearance of hollow ridges between the metacarpal bones.

 Bone: o Subluxation. o Dislocation.

 Joint swelling.

 Joint deformity: o Ulnar deviation. o Radial deviation. o Swan neck: hyperextension of the PIP joint and fixed flexion of the DIP joint. o Boutonniere: fixed flexion of the PIP joint and extension of the DIP joint. o Jaccoud's arthropathy: reversible flexion of the PIP joint and extension of the DIP joint, seen in SLE. o Z-deformity in the thumb: hyperextension of the IP joint, fixed flexion and subluxation of the MCP joint. o Sausage shape finger due to interphalangeal arthritis and flexor tendon sheath edema. o Telescoping fingers (arthritis mutilans): shortening of the fingers. o Resolution of finger tips (tapering fingers).

Palpation:  Temperature.  Tenderness.  Swelling: o Bony swelling: a. Heberden's nodes: at the DIP Joint. b. Bouchard's nodes: at the PIP joint. (Bony bumps on the finger joint closest to the fingernail are called Heberden's nodes. Bony bumps on the middle joint of the finger are known as Bouchard's nodes.) o Effusion.

Range of movement:  Passive movement.  Active movement, note any: o Limitation. o Joint crepitus. o Instability.

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 Functions: o Grip strength: give the patient a pen and ask him/her to squeeze it strongly. o Key grip: the key is held between the pulps of the thumb and forefinger. o Opposition strength. o Practical test: ask the patient to undo a button or write with a pen.

Special tests:

. Phalen's wrist flexion test: o lf carpal tunnel syndrome is suspected, ask the patient to flex both wrists (dorsum on the dorsal, and the wrist should be in 90˚) and the patient should wait for 30 second. o Paraesthesia will often be precipitated in the affected hand in the distribution of the median nerve if the carpal tunnel syndrome is present.

. Tinel's test: o Tapping over the flexor retinaculum which lies at the proximal part of the palm. o The test will be positive if there is paraesthesia in the tip of the patient's fingers.

. Examination of the hands is not complete without feeling for the subcutaneous nodules of RA near the elbow. These nodules are firm, non-tender and found over the olecranon or extensor surface.

2. Knee examination Inspection:  Comment on posture of the limb, inflammation of the synovium will cause the child to adopt the joint position of maximum intracapsular capacity (minimum tension), usually semiflexion  Signs of inflammation (redness, shiny skin)  Joint swelling or deformity  Cautery marks or sinus formation  Muscle wasting of the quadriceps  Observe the standing posture & the gait

Palpation:  Skin temperature: by using the back of the hand & compare with other limb  Tenderness: joint line tenderness  signifies arthropathy. Periarticular point tenderness away from the joint signifies bursitis or enthesopathy  Effusion: Mild effusion Moderate to large effusion Detect by the bulge sign. Keep the knee straight in Detect by the patellar tap. Keep the knee straight extension, any fluid in the antero-medial & then the suprapatellar pouch is emptied by compartment of the knee is massaged up into the pressure with one hand while the other hand suprapatellar poutch & normal depression medial (index & middle fingers) taps the patella against to the patellar tendon is seen to bulge as the fluid the underlying femur by a sharp downward accumulates there pressure

Range of movement:  Notice any limitation of movements, palpate for any crepitus during joint movement

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Tests of stability:  Cruciate ligaments: o Keep the knee flexed at 90o & maintain this position o With both hands free, check the hamstring muscles are relaxed o To test anterior cruciate the tibia is grasped just below the knee & is drown forwards o To test posterior cruciate this movement is reversed (push)  Collateral ligaments: o Keep knee in full extension o The patient's ankle is held between the examiner's elbow & side leaving both hands free to abduct & adduct the tibia on the femur while keeping the knee straight o Normally no lateral movement occur but patient feel localized pain o When ligament is lax click is heard when pressure is released  The McMurray test: o The object of this is to test the stability of the semilunar cartilage. This will induce a torn cartilage to engage between the tibia & femur by reproducing the mechanism, which originally caused the displacement o When this happens the patient experiences the typical symptoms & palpable (occasionally audible) "click" or "cluck" results o Let the patient be relaxed o To examine the right knee the examiner stands on the right side of the couch o The knee is then flexed to limit the patient will tolerate o While pressing on the outer side of the knee with the left hand the knee extended while tibia is alternately, internally & externally rotated by the right hand

Measurements:  A tap measure record of muscle wasting can be done by circumfrential measure at point (6-10 cm) above the superior patellar pole on both sides  Measure the maximum calf circumference  Measure leg length (from anterior superior iliac spine to medial malleolus)

Bow legs Knock legs In-toeing (a) at the feet, (b) lower leg, (c) hip, with 'W' sitting

Causes of: Bow legs (genu varum) Knock legs (genu valgum)  Physiological  Physiological  Rickets  Rickets  Blount's disease  Ligamentous laxity  Epiphysial dysplasia  Renal ostedystrophy

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Clinical features of in-toeing in children:  Medial tibial torsion  Metatarsus varus: o Occurs in toddlers o Occurs in infants o May be associated with bowing of the tibiae o Passively correctable o Self-corrects within about 5 years o Heel is held in the normal  Persistent anteversion of the femoral neck position o Presents in childhood o No treatment required o Usually self-corrects by 8 years of age unless it persists beyond o May be associated with hypermobility of the joints 5 years of age and is o Children sit between their feet with the hips fully symptomatic internally rotated ('W' sitting) o Most do not require treatment but femoral osteotomy may be required for persistent anteversion.

3. Hip examination Inspection:  Undress the patient to underpants & examined walking, standing & lying  Inflamed painful hip tends to be held in slight flexion, abduction & external rotation

Palpation:  Palpate the joint landmarks for tenderness & warmth  Localized tenderness over the anterior part of the hip may be due to joint inflammation or bursitis, if tenderness over the lateral aspect of the greater trochanter could be due to bursitis  Range of movements: o Flexion (approximate 120o) o Extension (approximate 20o) o Abduction (approximate 45o) o Adduction (approximate 30o) o Internal rotation (approximate 45o) o External rotation (approximate 45o)  Any pain on resisted movement in association with localized pain & tenderness indicates tendenitis e.g. pain on resisted adduction is typical of adductor tendentious & pain on resisted abduction is typical of gluteal tendenitis  Thomas test: (indicate s a fixed flexion deformity of the hip) o Flex the good hip fully, observing with the other hand that the lumbar spine is flattened o Lifting the thigh on the affected side with flexion of the knee indicates a positive test

Tests of stability: (trendelenburg's sign)  This sign demonstrates that the hip abductors are not functioning  It's useful in the late stages of congenital disease of hip when the patient is walking & in assessing the disability in polymyositis involving the lower limbs  When normal subjects stand on one leg the glutei contracts so that the opposite side of the pelvis is tilted up slightly  If patient stands on the affected leg (the action of glutei are deficient) the opposite side of the pelvis will tilt downward & balance can be maintained only by leaning over the side of lesion

Leg length discrepancy:  Apparent shortening is measured between fixed point (xiphoid process or umbilicus) & the tip of the medial malleolus  True shortening is measured from the anterior superior iliac spine to medial malleolus

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4. Ankle & foot examination:  The ankle joint: o It's hinge joint & should have normal dorsiflexion & plantar flexion of about 30o  Subtalar joint: o In the inversion & eversion of the hind foot the movements take place mainly in the subtalar joint o Her the examiner stabilizes the distal leg with one hand & grasp the heel with other hand to move the foot into inversion & eversion o Normal range is between 20o-30o  Midtarsal joint: o The inversion & eversion of the fore foot take place in the mid-tarsal joint, between the talus & calcaneous posteriorily & the fore foot anteriorly o Her the heel is held in one hand & the fore fot is held in the other, then the fore foot is adducted & abducted in relation to the hind foot o Normal range is 30o-40o

5. Examination of the spine for scoliosis:  Let the child stand erect with feet together  Check symmetry of the shoulders  Ask the child to bend forward at the waist 900, let the child touch his or her toes  The examiner sitting behind the child will see a hump in case of fixed scoliosis

Causes of scoliosis: Postural – 20% Structural – 80% (scoliosis disappearing when the child bends over) (scoliosis persisting when the child bends over)  Idiopathic  Bone: hemivertebrae, sprengel's deformity  Unequal leg length  Ligament: marfan's syndrome  Unilateral muscle spasm  Muscle-muscular dystrophy  Neurogenic: spina bifida, poliomyelitis, Frederick's ataxia & cerebral palsy  Post irradiation

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Important topic for OSCE

RICKETS

What is it? A failure in mineralization of the growing bone or osteoid tissue. Failure of mature bone to mineralize is osteomalacia

What are the causes?

Nutritional (primary) rickets – risk factors Defective production of 25(OH)D2 - Living in northern latitudes - Chronic liver disease

- Dark skin Increased metabolism of 25(OH)D3 - Decreased exposure to sunlight - Enzyme induction by anticonvulsants (e.g. - Maternal vitamin D deficiency Phenobarbital) - Diets low in calcium, phosphorus & vitamin D, Defective production of 1,25(OH)2D3 e.g. exclusive breast-feeding into late infancy - Hereditary type I vitamin D-resistant (or or, rarely, toddlers on unsupervised "dairy-free" dependent) rickets (mutation which abolishes diets activity of renal hydroxylase) - Macrobiotic, strict vegan diets - Familial (X-linked) hypophosphataemic rickets - Prolonged parenteral nutrition in infancy with (renal tubular defect in phosphate transport) an inadequate supply of parenteral calcium & - Chronic renal disease phosphate - Fanconi syndrome (renal loss of phosphate)

Intestinal malabsorption Target organ resistance to 1,25(OH)2D3 - Small bowel enteropathy (e.g. celiac disease) - Hereditary vitamin D-dependent rickets type II - Pancreatic insufficiency (e.g. cystic fibrosis) (due to mutations in vitamin D receptor) - Cholestatic liver disease - High phytic acids in diet (e.g. chapattis)

What is the Clinical Presentation? - Misery - Rickety rosary - Failure to thrive/short stature - Harrison sulcus - Frontal bossing of skull - Expansion of metaphyses (especially wrist) - Craniotabes - Bowing of weight-bearing bones - Delayed closure of anterior fontanelle - Hypotonia - Delayed dentition - Seizures (late).

How is the diagnosis made? - Dietary history for vitamin & calcium intake - Blood test – serum calcium is low or normal, phosphorus low, plasma alkaline phosphatase activity greatly increased, 25- hydroxyvitamin D may be low & parathyroid hormone elevated - X-ray of the wrist joint: show cupping & fraying of the metaphyses & widened epiphyseal plate Harrison sulcus, indentation of the softened lower ribcage at the site of attachment of the diaphragm

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What is the treatment? Nutritional rickets is managed by advice about a balanced diet, correction of predisposing risk factors & by the daily administration of vitamin D3 (cholecalciferol). If compliance is an issue, a single oral high dose of vitamin D3 can be given, followed by the daily maintenance dose. Healing occur in 2-4 weeks & can be monitored from the lowering of alkaline phosphatase, increasing vitamin D levels & healing on X-rays, but complete reversal of bony deformity may take years

CONGENITAL HIP DISLOCATION (CDH)

When the hip should be examined? At birth, 6 weeks, 6-8 months & 18 months

What are the risk groups for CDH? - Commoner in girls - Breech presentation - Commoner in first babies - Cesarean section - Family history of CDH - Oligohydramnios - Children with congenital foot deformity - Fetal growth retardation

How can you assess for hip dislocation? By Barlow's & Ortolani's test: - Lie the infant supine on a flat hard surface & remove the nappy - Stand in the mid line at the foot end of the infant, flex infant's knees fully & hips to 90o - Hold the lower limbs with your thumbs on the medial condyles & tips of the middle finger on the greater trochanters of each femur - Bring the knees together & attempt to push the hips posteriorly: if you feel a "click", it means the head of the femur has dislocated (Barlow's sign) - Keeping the grip unchanged unchanged, now abduct the infant's thighs with the thumbs & lift the femoral heads forward the middle fingers: if you feel a defined "clunk", it means the previously dislocated head of the femur has slipped back into the acetabulum(ortolani's sign)

(a) The hip is dislocated posteriorly out of the acetabulum (Barlow manoeuvre). (b) The dislocated hip is relocated back into the acetabulum (Ortolani manoeuvre).

What are the physical signs for unilateral dislocation? - Leg posture: the thighs tend to be held in partial external rotation, flexion & abduction - Limb shortening: above knee shortening on the affected side - Asymmetry of the thighs: skin creases may be asymmetrical when checked in supine & prone position (not very reliable) - Flatting of the buttock: may appear on the affected side in prone position - Limitation of abduction: persistent & less than 75 degree (the most important sign)

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What are the physical signs for bilateral dislocation? - The signs as described, although there is no normal hip for comparison - A perineal gap may be present

How can CDH affect the gait of child? - 20% of children with CDH will not walk at 18 months of age - 80% will not walk & stand at normal age - Child with unilateral CDH will limp or fall towards the affected side - After 2 years the child cannot balance on the affected leg - In bilateral CDK the gait is waddling

SEPTIC ARTHRITIS

What is it? It's a serious infection of the joint space, as it can lead to bone destruction. It is most common in children <2 years old

What are the causes? - Haematogenous spread - Following a puncture wound or infected skin lesions, e.g. chickenpox - In young children, it may result from spread from adjacent osteomyelitis - Underlying & predisposing illness such as immundeficiency & sickle disease should be consider

What is the most causative organism? Staphylococcus aureus

What is the clinical presentation? Acute monoarthritis with erythema, warmth, swelling, intense pain on passive movement (pain may be so severe that it causes pseudoparalysis of involved limb), fever and chills

What is the definitive investigation? Aspiration of the joint space under ultrasound guidance for organisms & culture

What is the treatment? - A prolonged course of antibiotics is required, initially intravenously. Proper antibiotic selection requires knowledge of likely bacterial pathogen at various ages

Microorganisms involved in septic arthritis/osteomyelitis Age Pathogens Treatment Neonate GBS, S.aureus, GNB cloxacillin + aminoglycoside or cefotaxime Infant (1-3 months) Strep. sp. Staph. sp., H. influenza cloxacillin + cefotaxime Child S. aureus, S. pneumonia, GAS cefazolin Adolescent As above; also N. gonorrhoeae cefazolin Sickle cell disease As above; also Salmonella cefotaxime GBS = group B strep ; GNB = gram-negative bacili ; GAS = group A strep

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- Washing out of the joint or surgical drainage may be required if resolution does not occur rapidly or if the joint is deep-seated, such as the hip

- The joint is initially immobilized in a functional position, but subsequently must be mobilized to prevent permanent deformity

OSTEOMYELITIS

What is it? It is infection of the metaphysic of long bones. The most common sites are the distal femur & proximal tibia, but any bone may be affected

What are the causes? It usually due to haematogenous spread of the pathogen, but may arise by direct spread from an infected wound

What is the most causative organism? Staphylococcus aureus

What is the clinical presentation? This is usually with a markedly painful, immobile limb (pseudoparesis) in a child with an acute febrile illness. Directly over the infected site there is swelling & exquisite tenderness, and it may be eruthematous & warm

How is the diagnosis made? - Blood cultures are usually positive - Blood test – white blood count & acute-phase reactants are raised - X-ray are initially normal, other than showing soft tissue swelling - Ultrasound may show periosteal elevation at presentation - MRI allows identification of infection in the bone & differentiation of bone from soft tissue infection

What is the treatment? - Prompt treatment with parenteral antibiotics is required for several weeks to prevent bone necrosis, limb deformity, chronic infection with a discharging sinus and amyloidosis. Antibiotics are given intravenously until there is clinical recovery followed by oral therapy for several weeks - Aspiration or surgical decompression of the subperiosteal space may be performed if the presentation is atypical or in immunodeficient children - Surgical drainage is performed if the condition does not respond rapidly to antibiotic therapy - The affected limb is initially rested in a splint & subsequently mobilize

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Chapter 9

ENDOCRINE SYSTEM

History of common Important topics: symptoms: Diabetes Stature Disorders of calcium balance Body weight, appetite & GH deficiency Bowel habit: Thyroid disorders Skin changes Adrenocortical insufficiency Hair distribution Precocious puberty Urogenital changes Delayed puberty Seizure Ambiguous genitalia

Endocrine examination

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History of common symptoms

Stature:  Onset  Previous measurements of both weight & height o calculate growth velocity: normal is (25/year for 1st year, 12.5/year for 2nd year then minimum 4-5 cm / year till puberty  evidence of chronic illness  evidence of endocrinopathy  birth weight & mode of delivery  family history: parent's heights, family disease, social deprivation

Etiology of: Short stature Tall stature - genetic - genetic - constitutional - constitutional - Chronic illness e.g. chronic renal insufficiency, - simple obesity sickle cell anemia, celiac disease, etc. - precocious puberty - small foe gestational age - gigantism - syndromes e.g. Turner's synpodrome - syndromes e.g. Beckwith weidmann, Weaver, - endocrinopathy e.g. hypothyroidism, growth Stato, Kallman hormone deficiency, hypoparathyroidism - hyperthyroidism - social deprivation

Body weight, appetite & Bowel habit:  Weight loss (thyrotoxicosis, DM) vs. gain (Cushing's, hypothalamic dz) (more than 10% per 6 mths is sonignificant )  Appetite: loss (Addison's) vs. increased (thyrotoxicosis)  Diarrhea (hyperthyroid, Addison's), Constipation (hypothyroidism, hypercalcemia)

Skin changes:  Pigmentation (hypopituitarism, Cushing's syndrome, acromegaly, Addison's)  Dryness (hypothyroidism, hypoparathyroidism)  Sweating (hyperthyroidism, pheochromocytoma, arcomegaly)  Soft tissue Overgrowth (acromegaly)

Hair distribution:  Hirsutism  Alopecia (Absence of hair from areas where it normally grows)  Decreased hair distribution in a male (hypogonadism)  Increased hair distribution in a female (androgen excess)

Urogenital changes  Polyuria (DM, Diabetes insipidus, polydipsia)  Polydipsia "excess drinking" (DM, renal disease, hypercalcemia, psychogenic, hypothalamic disease)  Menstrual changes (polycystic ovary, pituitary disease)

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Endocrine examination

General appearance:  Characteristic syndrome appearance  Stature  Ask pt. if any part tender before palpating  Weight

Nails:  Clubbing  Onycholysis " distal nail separation "  Thyroid acropachy (Thyrotoxicosis)

Hands:  Oversized hands (acromegaly)  Pigmentation of palmar crease (Addison's,  Heat (hyperthyroid) but normal in asians, blacks)  Tremor (hyperthyroid)  Pulse: rate (hyper-, hypothyroid), rhythm,  3rd, 5th metacarpals shortened character (pseudohypoparathryoid)  Palmar erythema (hyperthyroid)

Arms  Blood pressure for hypertension (Cushing'), hypotension (Addison's).  Trousseau's sign (hypercalcemia): o Occlude brachial artery for 3 min using BP cuff & See if carpal spasm is induced  Muscle weakness (hypothyroid, Cushing's)

Axillae:  Acanthosis nigricans (acromegaly)  Skin tags (acromegaly)  Axillary hair loss (hypopituitary)

Face:  Syndrome facies  Hirsutism (panhypopituitary)  Acne, oily skin (Cushing's)  Chin enlargement (acromegaly)

Eyes  Exophthalmos (hyperthryoid)  Eye fundus: (DM, acromegaly)

Mouth:  Buccal pigmentation (Addison's)  Tongue enlargement (acromegaly)

Neck:  Inspect buffalo hump (Cushing's)  Palpate supraclavicular fat pads (Cushing's)  Inspect webbed neck (Turner's)  Inspect for goiter

Chest:  Pigmented nipple (Addison's)  Male gynecomastia (Cushing's)  Loss, gain of chest hair  Reduced female breast size (panhypopituitary)

Abdomen:  Pt. lies down, one pillow under head  Disproportionate abdominal fat (Cushing's)  Purple striae (Cushing's)

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Genitalia:  Atrophy  Virilisation

Legs:  Toenails and foot showing same  Peripheral neuropathy (DM) symptoms as Fingernails and Hands

Thyroid Examination: Look at the general appearance if he (over dressed, sweaty, facialmaxiedema)

1. Hand:  Palm (moist,. sweaty, dry) , Muscle wasting  Tremor (fine or fast): Ask the patient to extend his/her arm with fingers straight and separated and see from bedside, orby placing a sheet of paper over the fingers  Feel the pulse; rate and rhythm (there may be atrial fibrillation)

2. Eyes :  Lid retraction: the upper eye retracts, Exophthalmos, Chemosis  Lid lag: when the upper lid doesn'tkeep pace with eyeball as it follows a finger moving from abovedownwards

3. Neck :  Inspection: - Look to the mass - Old scar - Ask patient to swallow and see its - Thyroid cartilage: present or not, movement deviated or not - Describe the swelling - Ask the patient to put out the tongue: if - Skin status the mass moves, it is most likely a - Dilated veins due to obstruction of thyroglossal cyst, but if it did not, it may thoracic inlet be a thyroid swelling

 Palpation: a. From front: - Size, number of masses (if nodular), - Tenderness - Consistency - Position the trachea b. From behind: - Flex the neck slightly; put your thumbs behind the neck and the rest of your fingers in front to feel the thyroid lobes. - If the lobes are small, they are easier feel by pressing firmly on the opposite side of the neck). - Ask the patient to swallow during palpation (Normal thyroid gland is not palpable). - Palpate the whole neck for any cervical and supraclavicular lymphadenopathy.

 Percussion: ( looking for mass extending) - Over sternum. - Supraclavicular fossa. - The clavicle.

 Auscultation :( for systolic bruit) - Ask the patient to take deep breath and hold it during auscultation.

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Important topics

DIABETES

DIABETES MELLITUS:

What is it? Absent or diminished insulin secretion or action resulting in hyperglycemia and abnormal energy metabolism

What are the 2 types? Type 1 Type 2 loss of pancreatic β-cell (insulin-secreting cell of insulin resistance with insufficient insulin secretion; the islets of Langerhans) function, resulting in a more common in adults but becoming more common loss of insulin secretion; it is the most common in children type seen in childhood.

What are the etiologic factors? Not completely known; associated with a combination of genetic and environmental factors. Hyperglycemia can further impair β-cell function, called “glucose toxicity.” Type 1 Type 2 Autoimmune processes are important in type 1, Inherited β-cell defects and propensity for insulin which might be triggered by environmental resistance with increasing body mass index are influences (viral?) in an individual with associated. Patients have impaired first-phase insulin predisposing genetic factors. Risk of type 1 DM release. Genetics are polygenic with varying increases if other family members are affected interactions with the environment. Type 2 DM is more with type 1 DM. Certain HLA haplotypes confer “hereditary” than type 1 DM. Lifetime risk is ~40% if increased risk of type 1 DM: DR3DQ2 and parent has type 2 DM and ~90% if monozygotic twin is DR4DQ8. affected. Prevalence is higher in African Americans, Native Americans, and Hispanic Americans.

How does a patient with DM present? Most commonly with polyuria, polydipsia, and weight loss; symptoms often occur insidiously over weeks to months. Pediatric patients sometimes present with diabetic ketoacidosis (DKA), including those with type 2 DM

How is DM diagnosed? - Two random blood glucose values > 200 mg/dL (or 1 if symptomatic); fasting blood glucose > 126 mg/dL; elevated glycosylated Hgb (HbA1c) level ≥ 6.5%. - In type 1 DM, islet cell, insulin, or other autoantibodies are usually present. - In type 2 DM, a fasting insulin level may reveal hyperinsulinemia, indicating significant insulin resistance. However, if children have developed concomitant β-cell insufficiency or failure (indicated by significant hyperglycemia), then insulin levels may not be elevated, although may still be higher than patients with type 1 DM (i.e., c peptide > 0.6 ng/mL)

Why is glycosylated Hgb (HbA1c) level important? It provides an estimate of the average blood glucose level for the preceding 2–3 months

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What are the goals of type 1 DM management? - Normal growth and development, prevention of early and late complications, manage glucose variability to prevent hypoglycemia - Specific goals for blood glucose ranges and HbA1c vary by age:

What are the goals of type 2 DM management? - Near-normal glycemic control (HbA1c < 7%, fasting BG < 130 mg/dL) - reduce factors leading to insulin resistance (manage weight, improve activity) - identify and treat comorbidities (hypertension, dyslipidemia, nonalcoholic steatohepatitis) - prevent vascular complications

List the 4 main components of management of type 1 DM. 1. Insulin: used to provide basal insulin needs (fasting requirements for glucose produced by liver from gluconeogenesis) and to metabolize carbohydrates consumed. Most insulin today is recombinant human insulin or insulin analogs, given as a combination of short- acting (regular, lispro, or aspart) and long-acting (NPH, glargine, or detemir). Methods of administering include as a 2 or 3 injections per day “fixed” regimen with NPH and regular/lispro/aspart or as multiple daily injections (basal-bolus method) with glargine/detemir supplying basal needs and lispro/aspart dosed on the basis of carbohydrate content prior to consumption. “Fixed regimen” using NPH has drawbacks of requiring “fixed” mealtimes and carbohydrate content each day and fasting hypoglycemia between meals/night/ during illnesses. Continuous insulin infusion via insulin pump can provide tight glucose control in motivated patients by administering short-acting insulin (lispro/aspart) in adjustable basal amounts throughout the day with boluses given for carbohydrates or hyperglycemia. DKA can occur more quickly in pump patients if a problem with the infusion site is not promptly recognized, since no long-acting insulins are “on- board" 2. Diet: depends on insulin regimen: consistent carbohydrate intake is required for 2–3 injections per day fixed insulin regimen; carbohydrate counting is required for dosing of rapid-acting insulin in multiple daily injections and insulin pump therapy 3. Exercise: aerobic exercise lowers the blood sugar without additional insulin and aids overall fitness. Patients should monitor blood glucose carefully during exercise. Easily absorbable carbohydrates (i.e., sports drinks) may be consumed during exercise to prevent hypoglycemia 4. Glucose monitoring: at least 4 times daily before meals and bedtime. With insulin dose titration, patients may need to test 2 hours after meals and during the night to assess the response to insulin. Subcutaneous continuous glucose monitors are now available to give minute-to-minute glucose trends to assist with strategies to reduce glucose variability

List 2 acute complications of type 1 DM and their causes. 1. Hypoglycemia can occur with over-insulinization or vigorous exercise, or if the patient skips meals when taking insulin via fixed-dose regimen. 2. DKA may be caused by poor patient compliance with insulin therapy, or by a severe illness.

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List 10 signs and symptoms of hypoglycemia. - Hunger, diaphoresis, and tremulousness because of sympathetic discharge - Deprivation of glucose to the CNS can lead to headaches, confusion, lethargy, bizarre behavior, slurred speech, loss of consciousness, and seizures.

What is the treatment of hypoglycemia? - If the patient is alert, give rapid-acting glucose-containing fluids and foods, or glucose tabs or gel. Repeat glucose check in 10–15 minutes until glucose > 80 mg/dL. Avoid complex carbohydrates and fat until glucose > 80 mg/dL, as they will delay carbohydrate absorption - If the patient is unconscious, give intramuscular glucagon or intravenous glucose in water

List 5 late complications of type 1 DM. Retinopathy, nephropathy, neuropathy, large-vessel atherosclerosis, ulcers on lower legs and feet

Can these be prevented? Tight glucose control can decrease the frequency of these complications by up to 75% and potentially prevent them

What is the treatment of type 2 DM? Children with symptomatic type 2 DM require medication; those with HbA1c values > 8.5% require insulin therapy. Diet and exercise are first-line treatments for those not yet symptomatic. The only pharmaceuticals approved by the FDA for use in pediatric type 2 DM are metformin and insulin

Diabetic ketoacidosis (DKA):

What is DKA? A potentially life-threatening condition occurring in DM that is characterized by severe hyperglycemia, with resulting electrolyte disturbances, dehydration, and metabolic acidosis

What are some signs or symptoms of DKA? Polyuria, polydipsia, fatigue, dehydration with tachycardia (possible hypotension and hypoperfusion), abdominal pain, nausea, and vomiting; Kussmaul respirations (hyperpnea), obtundation, and coma may occur

What are the causes of DKA? A lack of adequate insulin is the primary cause of DKA. DKA may be the initial sign of DM. In patients with known diabetes, DKA may be triggered by illnesses or noncompliance with insulin therapy

List 7 metabolic derangements in DKA. 1. Severe hyperglycemia 2. Decreased serum CO2 (with respiratory compensation) 3. Increased BUN and hematocrit (dehydration with hemoconcentration) 4. Normal or low Na+ (pseudohyponatremia is artifact, caused by lipemic serum or hyperglycemia) 5. Normal or increased serum K+ caused by cellular shifts from acidosis; however, total body K+ depletion is present from renal losses and is potentially life-threatening. Be aware that K+ may drop precipitously with correction of acidosis 6. Presence of ketones in serum and urine 7. Low serum phosphorus due to hyperphosphaturia

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How do you assess the severity of DKA?

Mild Moderate Severe Sensorium Alert drowsy coma Hyperpnea absent mild severe Hypovolemia None or mild <3% Mild to moderate from 3 to 5 % Severe >5% Plasma bicarbonate >16-18 >10 <10 Venous PH >7.3 7.2-7.3 <7.2 Anion gap Meq/L 18-20 20-25 >25

What are the diagnostic criteria for DKA?

Diagnostic criteria - Cranial nerve palsy (especially III, IV, and VI) - Abnormal neurogenic respiratory pattern (eg, - Abnormal motor or verbal response to pain grunting, tachypnea, Cheyne-Stokes respiration, - Decorticate or decerebrate posture apneusis) Major criteria - Age-inappropriate incontinence - Sustained heart rate deceleration (decline more - Altered mentation/fluctuating level of than 20 bpm) not attributable to improved consciousness intravascular volume or sleep state Minor criteria - Age <5 years - Lethargy or being not easily aroused from sleep - Vomiting - Diastolic blood pressure >90 mmHg - Headache

List 4 components of DKA treatment. 1. Careful rehydration! IV fluid is the first step. Patients typically have at least a 7–10% fluid deficit. Gradual rehydration with isotonic fluids may reduce the risk of cerebral edema. Initial rehydration may include 10–20 mL/kg total as boluses of normal saline or lactated ringers. Replete remaining fluid deficit over next 48–72 hours using maintenance to no more than twice maintenance rates. 2. IV insulin: infusion at 0.1 units/ kg/hr. IV insulin bolus is not generally recommended. Younger children (<2 years) may need 0.05 units/kg/hr. Infusion should be titrated at a rate of no less than 0.05 units/kg/hr (for older children). IV dextrose can be started or increased to prevent hypoglycemia with insulin administration. 3. Dextrose (5–10%) is added to IV fluids when the glucose level reaches 250–300 mg/dL. Dextrose plus insulin is needed to reverse the acidosis from the underlying catabolic process. 4. NaHCO3 is considered only for severe acidosis (serum CO2 < 5 mmol/L or pH < 7.0) as it may increase complications such as cerebral edema.

What are the cautions in DKA treatment? SLOW correction of hyperglycemia and dehydration is essential. Too much fluid too quickly or rapid shifts in osmolarity may cause cerebral edema and herniation. IV dextrose should be administered with IV insulin to avoid hypoglycemia during the latter phase of DKA treatment.

DIABETES INSIPIDUS:

 See page 83

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Immediate assessment and management of diabetic ketoacidosis (DKA) in children:

BG, blood glucose; ECG, electrocardiogram; ICU, intensive care unit; IV, intravenous; PG, plasma glucose; SC, subcutaneous.

Adapted with permission from 57. Wolfsdorf J, Craig ME, Daneman D, et al; for the International Society for Pediatric and Adolescent Diabetes. Diabetic ketoacidosis. Pediatr Diabetes. 2007;8:28-43

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DISORDERS OF CALCIUM BALANCE

HYPERPARATHYROIDISM:

What is it? Elevated levels of PTH, causing hypercalcemia and hypophosphatemia

What does PTH do? PTH mobilizes calcium from bone, increases calcium reabsorption from the gut, and causes decreased renal tubular reabsorption of phosphorus. PTH causes the conversion of inactive 25-hydroxyvitamin D (storage form) to active 1,25-dihydroxyvitamin D by 1α-hydroxylation in the kidney with the assistance of magnesium

What stimulates PTH secretion? Hypocalcemia

What are the signs and symptoms of hyperparathyroidism? - Symptoms related to hypercalcemia: fatigue, nausea, vomiting, anorexia, palpitation, pruritus, constipation, lethargy, weakness, depression, poor memory, confusion, polyuria, polydipsia, bone pain, and fractures - Symptoms secondary to kidney stones: hypertension, renal colic - Mnemonic: “stones, groans, bad bones, and psychiatric overtones”

List 3 diagnostic laboratory findings. Elevated serum calcium (total and ionized); low phosphorus; inappropriately normal or elevated PTH (relative to elevated serum calcium)

List 2 etiologic factors. Hyperfunction of all the parathyroid glands (hyperplasia)—familial in 20%; a solitary adenoma—typically nonfamilial

What are the treatments?  Hyperplasia: subtotal parathyroidectomy (usually 3.5 glands) or total parathyroidectomy with reimplantation of pieces of half gland in sternocleidomastoid or brachialis muscle  Adenoma: removal of adenomatous gland

HYPOPARATHYROIDISM:

What is it? Low levels of PTH

List 2 metabolic results. Hypocalcemia and hyperphosphatemia

What are the etiologic factors in children? Sporadic, autoimmune, or agenesis/ dysgenesis (i.e., deletion syndrome, DiGeorge syndrome)

What are the typical signs and symptoms? Symptoms related to hypocalcemia: tetany, seizures, abdominal pain, numbness of the face or extremities, or carpopedal spasm. Chvostek and Trousseau signs may be elicited.

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Chvostek sign Trousseau sign Twitching of the muscles innervated by the facial Carpal spasm that occurs after inflating a blood nerve; it is elicited by tapping 1–2 cm anterior to pressure cuff on the upper arm to above the earlobe just below the zygomatic process systolic pressure for up to 3 minutes

What is the treatment for hypoparathyroidism? Active vitamin D (or 1,25- dihydroxycholecalciferol [calcitriol]) and calcium supplementation

VITAMIN D METABOLISM:

What forms of vitamin D are biologically important? - Vitamin D3 (cholecalciferol) is made in the skin from sun exposure and is the primary endogenous form. Vitamin D2 (ergocalciferol) comes from plant ingestion and is the primary form in food. - 25-hydroxyvitamin D is made from D2 or D3 by 25-hydroxylation in the liver and is the storage form. - 1,25-dihydroxyvitamin D (calcitriol) is made from 25-hydroxyvitamin D by 1 α- hydroxylation in the kidney by PTH and is the active form.

What are the findings of vitamin D deficiency? Hypocalcemia (vitamin D deficiency is the most common etiology in children) with associated symptoms, rickets (see page 137)

List 4 metabolic results. Hypocalcemia, hypophosphatemia, high serum alkaline phosphatase (most sensitive indicator of rickets), low 25-hydroxyvitamin D

List 7 risk factors fornvitamin D deficiency. Darkly pigmented skin, northern latitude inhabitancy, avoidance of sunlight exposure, exclusive breast-feeding, vitamin D–deficient mother, vegan diet, malabsorptive disorders (cystic fibrosis, short gut, celiac disease, inflammatory bowel disease)

What is the therapy? Acute symptomatic (i.e., tetany or seizures) hypocalcemia is treated with IV calcium, switching as soon as possible to oral calcium and vitamin D. Calcitriol (active vitamin D) may be given to treat acute hypocalcemia, but ergocalciferol or cholecalciferol therapy is needed to replenish vitamin D stores.

GH DEFICIENCY

What is GH? It is an anterior pituitary hormone that causes growth of all tissues, especially bone and cartilage. It promotes mineralization of bones and has a role in carbohydrate and lipid metabolism.

What are the common causes of GH deficiency? 1. Idiopathic or congenital 2. Histiocytosis, sarcoidosis, craniopharyngioma 3. Secondary to CNS trauma or infection 4. A sequela of surgery, chemotherapy, or irradiation for CNS tumors

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Are newborns with GH deficiency usually of normal size? Yes, because GH is not necessary for fetal Growth

What are some potential presenting signs and symptoms of GH deficiency in childhood? Short stature with growth velocity < 5 cm/yr, decreasing after 6–12 months of age, mild truncal obesity, frontal bossing; delayed dental development, sometimes hypoglycemia, microphallus in males, flat nasal bridge, high pitched voice, central incisor, cleft palate, or other midline facial defects

List 3 diagnostic findings of GH deficiency. 1. Delayed skeletal development (shown by bone-age radiograph) 2. Low serum GH surrogates (IGF-1 and IGF-BP3) 3. Abnormal response to GH stimulation tests (random GH levels are not helpful because of pulsatile secretion)

What is the treatment for GH deficiency? Recombinant GH via daily subcutaneous Injection

Other than GH deficiency, what are some other indications for the use of GH therapy? Turner syndrome, Prader-Willi syndrome, chronic kidney disease, small-for-gestational age infants who have not caught up by age 2 years, and idiopathic short stature

THYROID DISORDERS

HYPERTHYROIDISM:

List 6 causes of hyperthyroidism. Graves disease, autonomous thyroid nodules; subacute thyroiditis, McCune-Albright syndrome, chronic lymphocytic thyroiditis; in infants, neonatal thyrotoxicosis caused by maternal Graves disease

What is Graves disease? The most common cause of hyperthyroidism, it is autoimmune hyperthyroidism secondary to diffuse thyroid hyperplasia (“diffuse toxic goiter”).

What causes Graves disease? Thyrotropin (TSH) receptor-stimulating antibodies that activate the TSH receptors

What are the findings on thyroid function tests? Elevated free T4 levels or total T3, there is increased peripheral conversion of T4 to T3 in hyperthyroidism making T3 testing useful in this setting, TSH is very low or undetectable as a result of feedback suppression by high T4, positive TSH receptor antibody or TSH- stimulating immunoglobulin levels

Which sex is affected more often? Females, approximately 5:1

At what age are children affected? Two-thirds of childhood cases occur in patients 10–15 years of age

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What are the signs and symptoms of Graves disease? Increased appetite, weight loss, loose frequent stools, heat intolerance, diaphoresis; difficulty sleeping, emotional lability, inattention, hyperactivity, deterioration of school performance, anxiety, weakness and inability to participate in sports, tachycardia, increased systolic blood pressure with wide pulse pressure, tremor, proptosis/exophthalmos, lid lag, pain with eye movement, thyroid gland that is diffusely enlarged, smooth, nontender, and homogeneous with possible bruit, warm, moist, smooth skin, brisk deep tendon reflexes with rapid relaxation phase

What is Graves ophthalmopathy? Autoimmune disease of the retro-orbital tissues, thought to be due to swollen extraocular muscles and retro-orbital connective tissue from inflammation and accumulation of glycosaminoglycans initiated by the TSH receptor antigens; may cause redness and edema of the conjunctiva, decreased mobility of the eye, or proptosis (exophthalmos)

What is thyroid storm? A rare, life-threatening complication of Graves disease; uncontrolled exaggerated hyperthyroidism leads to marked hypertension, hyperthermia, tachycardia, vomiting, diarrhea, and CNS symptoms (apathy, confusion, coma); cardiac failure may occur.

List 4 factors that can cause thyroid storm. Infection, surgery, trauma, or noncompliance with antithyroid medications

What are the therapies for thyroid storm? β-Blockers, methimazole (PTU), glucocorticoids, Lugol solution (iodine), iodinated contrast agents

What is presently thefirst-line treatment of Graves disease in children? Antithyroid medications to block thyroid hormone production: - Methimazole (Propylthiouracil), which also blocks peripheral conversion of T4 to T3, now no longer recommended because of possible idiosyncratic fulminant liver toxicity - Propranolol or atenolol for relief of adrenergic symptoms

HYPOTHYROIDISM:

List 2 categories of hypothyroidism in children.

Congenital hypothyroidism Acquired hypothyroidism caused by thyroid gland agenesis, dysgenesis, or Which usually occurs after the first year of life, enzymatic defects more commonly in adolescent girls

Which is more serious & Why? Congenital hypothyroidism, because Thyroid hormone is required for normal brain growth and development during at least the first 2 years of life

What may occur if diagnosis is delayed? Disorder may be asymptomatic or mildly symptomatic in early neonatal period, but delay in diagnosis can lead to mental retardation. Diagnosis in the first week or two is optimal, after which time IQ points are lost. The longer the diagnosis and treatment are delayed, the lower the IQ

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do infants with congenital hypothyroidism present? Frequently, with abnormal newborn screening results; however, some hypothyroid infants will be missed! At birth, infants most often appear normal but may have prolonged jaundice. If infants are untreated, symptoms develop during 1–2 months that include poor feeding, lethargy, hypotonia, constipation, coarse facial features, large protruding tongue, large open fontanel, coarse cry, umbilical hernia, cool, dry, mottled skin, and developmental delay

What constitutes newborn screening for congenital hypothyroidism? A battery of screening tests are performed which differ by state. Blood specimens are obtained by heel-stick after the first 24 hours of life. Thyroxine (T4) or TSH is tested, depending on the state. If there is an abnormal screening test in the newborn screen, a confirmatory venous sample for both free T4 and TSH should be sent immediately and therapy initiated while awaiting results

What is the treatment for congenital hypothyroidism in a newborn? L-Thyroxine as soon as possible! Because of the risk of the infant developing CNS abnormalities, L- thyroxine administration should continue until 2–3 years of age, then it may be stopped in select patients (on low doses or with mild elevations in TSH at diagnosis) and free T4 and TSH should be checked in 2–4 weeks. If results are abnormal, the patient should be treated for life. If test results are normal, therapy can be discontinued, but follow-up tests in 2–3 months should be performed

What are the signs and symptoms of acquired hypothyroidism? Slow growth, cold intolerance, decreased energy level, decreased appetite, constipation, irregular menses in adolescent girls, coarse puffy face, flattened nasal bridge, stocky habitus, dull, dry, thin hair, rough, dry, sallow skin, delayed relaxation phase of deep tendon reflexes, school performance isboccasionally impaired.

List 4 etiologic factors. Most commonly, autoimmune destruction secondary to chronic lymphocytic thyroiditis (Hashimoto thyroiditis). Other conditions include surgical or radioactive iodine ablation for the treatment of hyperthyroidism, goitrogens (iodides in cough syrups, seafood and kelp, soy products, cassava, millet, amiodarone, lithium, antithyroid drugs), ectopic thyroid dysgenesis

List 4 diagnostic findings. Low free T4; elevated TSH, thyroid antimicrosomal and antithyroglobulin antibodies often positive in Hashimoto thyroiditis, delayed bone age, which can indicate duration of hypothyroidism

ADRENOCORTICAL INSUFFICIENCY

What is it? Adrenal insufficiency resulting in decreased cortisol and aldosterone production

What is Addison disease? Primary adrenocortical insufficiency because of a destructive autoimmune process

List 11 signs and symptoms. Weakness, fatigue, anorexia, abdominal pain, nausea, vomiting, weight loss, salt-craving, hypoglycemia, postural hypotension, and increased pigmentation (especially at pressure points, lips, nipples, buccal mucosa, palmar creases, under nails, and scarred areas of skin)

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9 other causes of adrenocortical insufficiency. Congenital adrenal hyperplasia (CAH), Congenital adrenal hypoplasia (may also have ambiguous genitalia, pubertal disorders, or muscular dystrophy), bilateral adrenal hemorrhage (called “Waterhouse-Friderichsen syndrome” if from meningococcemia), trauma, thrombosis, infection (TB), tumors, drugs, adrenoleukodystrophy

Why does “bronzing” occur? Pigmentation due to primary adrenal insufficiency (“bronzing”) occurs because of increased ACTH production, which leads to increased α-MSH (α-melanocyte-stimulating hormone) production. ACTH is produced from pro-opiomelanocortin (POMC), which makes both ACTH and α-MSH.

What are the diagnostic findings? - Elevated ACTH and a low morning serum cortisol level that fails to rise with ACTH stimulation - There may be fasting hypoglycemia, hyponatremia, hyperkalemia, and elevated plasma renin activity

What is the treatment? Glucocorticoid and mineralocorticoid Replacement

PRECOCIOUS PUBERTY

What is it? Onset of puberty more than 2.5–3 standard deviations earlier than average; traditionally, before age 8 years in females or 9 years in males. One endocrine society now recommends using younger than age 7 years in Caucasians and 6 years in African Americans.

What is usually the first sign of puberty in males? Enlargement of the testes

What is the first sign of puberty in females? Thelarche (breast development)

Is precocious puberty more common in boys or girls? Girls

What is the most common cause of precocious puberty in girls? Idiopathic precocious puberty

What is meant by central precocious puberty (CPP)? Precocious puberty secondary to increased release of gonadotropin-releasing hormone from the hypothalamus

List 4 causes of CPP. 1. Idiopathic true or central precocious puberty 2. Chronic exposure to sex steroids 3. CNS pathology (trauma, tumor, hamartoma, Rathke’s cleft cyst, or malformation) 4. Postinfectious or postinflammatory conditions

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What is peripheral precocious puberty (PPP, a.k.a. “precocious pseudopuberty”)? Puberty caused by the release of sex steroids by mechanisms other than the usual hypothalamic-pituitary-gonadal axis; typically hormones come from gonads or adrenals, not stimulated by gonadotropins

List 6 causes of PPP. Exogenous hormones; hormone-producing tumors or cysts (e.g., adrenal, ovarian, testicular, hCG-secreting germinomas), congenital adrenal hyperplasia (CAH), McCune-Albright syndrome; male-limited gonadotropin-independent precocious puberty, primary hypothyroidism

What is a “bone age”? The skeletal age of a child, determined by a radiograph, typically of the left hand and wrist, which is compared with standards for a given age and used to examine the degree of epiphyseal maturation

List the 2 components of an initial evaluation of precocious puberty. - Detailed history (including evaluation of previous growth data and current growth velocity) - physical examination

What is included in the laboratory evaluation? Laboratory studies may include serum levels of follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, testosterone, and adrenal androgens (DHEAS and 17-OHP).

What radiographic studies are indicated? Plain radiographs to assess the bone age may be helpful. If clinical and laboratory test findings suggest CPP, a brain MRI with pituitary visualization sequences (with and without contrast) is needed in any boy and in girls < 7 years. Girls aged 7–8 may need an MRI, if indicated. If findings suggest PPP, ultrasound or CT examination of the pelvis (ovaries) or abdomen (adrenal glands, other masses) may be indicated.

DELAYED PUBERTY

What is it? Delay in the onset of development of secondary sexual characteristic

After what age is puberty considered delayed? If there has been no development of secondary sexual characteristics by age years in females or 14 years in males

What is hypergonadotropic hypogonadism? Delayed puberty associated with increased levels of FSH and LH

What is its pathophysiology? The pituitary is functioning, but there is lack of peripheral response from the gonads, that is, primary gonadal failure

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What is hypogonadotropic hypogonadism? Delayed puberty associated with inadequate levels of FSH and LH

What is its pathophysiology? It implies a central problem in gonadotropin production or release; may include a structural abnormality, tumor, gene defect leading to hypopituitarism, or nutritional problem/stress (functional)

What is the most common cause of delayed puberty in boys? Constitutional delay of puberty, a variant of normal growth, which typically has a strong family history

List 8 causes of pubertal delay in boys or girls. Acquired hypothyroidism, constitutional delay, primary gonadal failure or dysgenesis (i.e., Klinefelter syndrome in boys, Turner syndrome in girls), gonadotropin deficiency (i.e., Kallmann syndrome: typically boys with anosmia), hypopituitarism, CNS tumors, nutritional disturbances (i.e., anorexia nervosa in both sexes), GI disorders (i.e., inflammatory bowel disease)

List 4 ways delayed puberty is evaluated. Careful history and physical examination, hand and wrist radiograph to determine bone age, thyroid tests, serum gonadotropins

What is the treatment of delayed puberty?

in boys in girls Treatment of the underlying cause. If this is not Treatment of the underlying cause. If this is not possible, the physician may consider a brief course possible, the physician may consider a low-dose of long-acting testosterone esters by injection. A conjugated estrogen, increasing the dosage gradually longer course may be indicated if puberty does not for about 1 year to mimic natural pubertal levels. This develop within 12 months, which may indicate an is most commonly used for Turner syndrome, other underlying pathology beyond constitutional delay causes of primary ovarian failure, or for hypogonadotropic hypogonadism. Menarche can be chieved later by adding a progestational agent

AMBIGUOUS GENITALIA

What does “ambiguous genitalia” refer to? - A constellation of congenital conditions, with a variety of causes, in which the genitalia are not phenotypically normal for either sex - The term “disorders of sexual development” (DSDs) is now used to describe this group of conditions

How are DSDs classified? 1. Sex chromosome DSD, which includes Turner syndrome (45,X), Klinefelter syndrome (47,XXY), and the old term “true hermaphrodite,” which is gonadal dysgenesis leading to ovotesticular DSD, where both testicular and ovarian tissue are present in a genetic male or female 2. 46,XX DSD, or virilized female, formerly called “female pseudohermaphrodite” 3. 46,XY DSD, or undervirilized male, formerly called “male pseudohermaphrodite”

What is the most common cause of 46, XX DSD, a virilized female infant? Congenital adrenal hyperplasia (CAH)

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In general, what do the genitalia in patients with ambiguous genitalia look like? Phallus may be suggestive of a hypertrophic clitoris, with a small vaginal opening or urogenital sinus. The urethral meatus may be anywhere from the urogenital sinus to the base of the phallus to the tip of the phallus (described as Prader staging). When the phallus appears large enough to be a penis, it often has a chordee and hypospadias. The distance between the anus and the base of the urogenital sinus opening is increased compared with typical female (measured as an anogenital ratio), indicating the fusion of labioscrotal folds. There may be rugation or darkening of the labioscrotal folds.

List 7 components that should be included in the general diagnostic approach for any patient with a DSD. 1. A history for any maternal drug ingestion that may suggest the presence of progestational agents or maternal virilization (i.e., excessive acne, hirsutism) that may suggest a luteoma of pregnancy 2. A history of any genital abnormalities in relatives or unexplained infant deaths (which may have been attributable to electrolyte abnormalities caused by salt wasting) 3. Physical examination to assess gonadal location and symmetry, phallus size and shape, and evaluation of vaginal size 4. Karyotype 5. Serum electrolytes 6. Abdominopelvic ultrasound 7. Determinations of hormonal levels: depends on history/exam, but should include 17- hydroxyprogesterone, cortisol, testosterone

As what gender should a child with a DSD be reared? Traditional opinion has been that if there is a question about the ability to provide an adequate phallus, the patient should be reared as a female. However, some people believe that genetic status should determine gender assignment. Others advocate postponement of permanent reconstructive surgery until the individual patient can participate in the decisionmaking. This is a very controversial issue and careful discussion must be undertaken with the parents. Decisions must be made in close partnership with the parents

What is the surgical approach to perineal reconstruction?

For infants who will be raised as females For infants who will be raised as males Cystoscopy is used to assess the urethral and Reconstruction is performed in a staged manner. vaginal openings because, in many of these The first stage involves a release of the chordee; patients, these 2 orifices join to form a common subsequent operations repair the hypospadias and, opening at the perineum (urogenital sinus) and if needed, fix the testes in the scrotum need to be separated. Reconstruction involves (orchiopexy). Sometimes, a short course of clitoral recession and labial-scrotal reduction with testosterone therapy is given prior to repair to vaginal repair. This may be staged in the infant and stimulate phallic growth to maximize surgical toddler years as necessary. If vaginal replacement outcome is needed, this is usually done in early adolescence.

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Chapter 10

DERMATOLOGY & HEMATOLOGICAL SYSTEM

History of common Important topics: symptoms: Iron-deficiency anemia Rash Thalassemia Bruising & bleeding Sickle cell disease Major Symptoms of Glucose-6-phosphate hematological abnormalities dehydrogenase deficiency 10 common paediatric skin Examination & Description conditions Common birthmarks of a skin lesion Henoch-schonlein purpura Hematological examination

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History of common symptoms

Rash:  Onset  Body location  Pattern of spread (e.g. chest to extremities)  Location where the rash first appeared  Any change/evolution of individual lesions  Associated symptoms: itching (pruritis), pain, fever, malaise, headache, conjunctivitis, cough  Provocative factors: heat, cold, sun, exercise, travel, medications, pregnancy, season, stress  Exposure to persons with rash  Prior treatments  Prior history of chicken pox, sore throat, joint pain, abdominal pain, asthma, hay fever, eczema  Constitutional symptoms: headache, weakness, night sweats, weight loss & fatigue

Bruising & bleeding:  Onset  Duration (Is the bleeding lifelong or of recent onset?)  Frequency  Progression  amount & nature (fresh or clotted, bright or dark)  Extensive bleeding with trauma.  Associated symptoms: Weight loss, fever, pallor, jaundice, recurring infections, Bone pain, joint pain, abdominal pain  Medication

Differential Diagnosis of Bruising and Bleeding: - Hemolytic uremic syndrome - Takayasu arteritis - Thrombotic thrombocytopenic purpura - Polyarteritis nodosa - Uremia - Kawasaki syndrome - Paraproteinemia - Henoch-Schönlein purpura - Myelodysplastic syndrome - Leukocytoclastic ("hypersensitivity”) - Phenytoin, valproic acid, quinidine, - vasculitis heparin - Wegener granulomatosis - Afibrinogenemia/dysfibrinogenemia - Churg-Strauss syndrome - Clotting factor deficiencies (hemophilia - Essential cryoglobulinemia - A, B, Christmas disease) - Systemic lupus erythematosus - Von Willebrand disease - Juvenile rheumatoid arthritis - Vitamin K deficiency - Mixed connective tissue disease - Hemorrhagic disease of the newborn - Dermatomyositis, scleroderma - Trauma - Bacterial or viral infection, spirochetal - Vasculitis - infection, rickettsial infection - Giant cell (temporal) arteritis - Malignancy

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Major Symptoms of hematological abnormalities:

1. RBC abnormalities:  Symptoms of anemia: - Weakness. - Tiredness. - Dyspnea. - Fatigue. - Postural dizziness. - Pallor.  Jaundice (due to hemolysis).  Bleeding, e.g. menstrual bleeding, GI bleeding, epistaxis.

2. Platelets abnormalities:  Easy bruising, purpura, thrombotic tendency.

3. WBC abnormalities:  Recurrent infections.  Bone pain.

4. Lymph nodes abnormalities:  Lymphadenopathy.  Skin rash (lymphoma).

5. Constitutional symptoms:  Fever.  Weight loss.

 Symptoms analysis:  For each symptoms above, ask about: onset duration, course (frequency, progression, continuity), offset.  In epistaxis, ask about amount nature (fresh or clotted, bright or dark), from which nostril (right, left or both).

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Examination & Description of a skin lesion

1) General Appearance: (well, uncomfortable, toxic) 2) Vital signs: (pulse, respiration, temperature, etc) 3) Skin exam: (entire skin should be inspected, including mucous membranes, genital/anal regions). Proper and complete description of a dermatologic lesion should include the following features

 Remember SCALDA to describe a lesion:

S Size/Shape/texture C Color A Arrangement L Lesion type (primary, secondary) D Distribution (e.g. Symmetrical, dermatomal, follicular, extensor surfaces, intertriginous (between body folds), dependent areas, sun-exposed skin) A Always check condition/involvement of mucous membranes, nails, hair and intertriginous areas.  Example Lesion Description for Acquired Nevomelanocytic Nevus (Common Mole): Small (<1cm), round, uniformly tan, brown or black macules/papules. Scattered, discrete lesions that are well-circumscribed with smooth, regular borders.

 Dermatologic Terminology: o Primary Lesions: Those lesions that are the direct result of a pathologic process - Macule: Small, flat, non-palpable lesion (<1 cm). Non- palpable. Example: Freckle - Patch: Large, flat, non-palpable lesion (>1 cm). Example: “Cafe-au- lait” spot - Papule: Small, elevated, palpable lesion (<1 cm). Example: Wart - Plaque: Large, elevated, palpable lesion (>1 cm). Example: Psoriasis - Nodule: Small bump (<1 cm) with significant deep component (must be palpated to appreciate). Example: Enlarged lymph node - Tumor: Large bump (>1 cm) with significant deep component (must be palpated to appreciate). It is important to distinguish this use of the word from its more common use in describing neoplasms.Example: Xanthoma - Vesicle: Small fluid-containing lesion (<1 cm). Example: Blister - Bulla: Large fluid-containing lesion (> 1 cm). Example: Blister - Cyst: Sac containing semi-solid or fluid material. Example: Sebaceous cyst

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- Pustule: A puss containing lesion. Variables sizes. A follicular pustule, of the hair follicle, generally indicates local infection while a Non- follicular pustule may indicate systemic infection. Example: Abscess - Folliculitis: Superficial, usually multiple - Furuncle: Deeper version of folliculitis - Burrow: Small threadlike curvilinear papule produced by skin infestation. Virtually pathognomonic for scabies. - Comedone: Plugged hair follicle. Typical of acne, they can be open (blackhead) or closed (whitehead). - Fibrosis / Sclerosis: Scarring/thickening of the dermis. - Hypertrophic scar / Keloid: Hypertrophic scars and keloids are characterized by the growth of excess scar tissue. The distinction is that hypertrophic scars do not overgrow the original wound boundaries, whereas keloids do. - Petechiae / Purpura: (1-2 mm & 3-10 mm respectively) Like tiny bruises, these are red or purple macules caused by capillary hemorrhage under the skin or mucous membrane. They may be palpable but do not blanch with pressure. Example: Thrombocytopenic purpura - Ecchymosis / Bruise: Large (>1 cm) skin discolouration due to the presence of blood in the subcutaneous tissue resulting from ruptured vessels. - Telangiectasia: A dilation of superficial dermal vessels visible on the skin or mucous membranes. Example: Spider angioma - Wheals / Hives: Transient (<24 hours) well-circumscribed, superficial edematous papules or plaques. They may be white to pale red and often appear and disappear over a period of hours. Example: Urticaria

o Secondary Lesions: Lesions that are the result of alteration or evolution of a primary lesion (e.g. rubbing, scratching, infection) - Crust: Dried remains of serum, blood or pus overlying involved skin. Example: Scab - Excoriation: Traumatized or abraded skin, usually due to scratching or rubbing. - Fissure: Linear, often painful crack in the skin. - Lichenification: Accentuation of normal skin lines/creases due to chronic rubbing/scratching. - Maceration: Raw, moist tissue. Typically found in body folds.

- Scale: Flakes of keratin that can be fine or coarse; loose or adherent. Example: Dandruff

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- Erosion: Superficial open wound involving only epidermis or mucosa. Does not extend into the underlying dermis, so healing occurs without scar formation. - Ulcer: Deep open wound extending into the dermis or subcutaneous tissue. May lead to scar formation. Example: Diabetic foot ulcer, Canker sore

o Colors: - Erythematous: Red - Hypopigmented: A decrease in normal - Violacious: Purple brown/black colouration. - Yellow: As you’d expect. Often - Depigmented: Total absence of normal suggests presence of lipid or jaundice. brown/black colouration. As in Vitiligo - Pigmented: Usually used to describe - Hyperpigmented: An increase in normal brown, black or grey lesions. brown/black colouration. o Shape/Texture: - Multiform: Lesions with a variety of - Targetoid: Like a bullseye. Nearly shapes pathognomonic for erythema multiforme. - Polygonal: Many-sided, like a polygon. - Umbilicated: Lesion with a central dell. - Serpiginous: Wavy or curvy like a - Verrucous: Rough surface texture, like that serpent of a wart o Arrangement: - Solitary: Single lesion. - Annular: Ring-like. - Grouped: Gathered together. - Polycyclic: Multiple curves, like the edge of a - Linear: Resembling a straight line. cloud Often suggests external cause such as - Reticulate/Reticular: Mottled. poison ivy. - Zosteriform/dermatomal: distributed along - Arcuate: Curved, resembling an arc(s). dermatomal lines, like Shingles.

Multiform Linear Annular Reticulate Zosteriform

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Hematological examination

1. General appearance:  Looks well or ill.  Plethora.  Cachectic, normal, or obese.  Racial origin: thalassemia.  In pain and dyspneic or not.  Pallor: anemia.  Cold and clammy.  Bruising: petechiae, ecchymosis.  Cyanosis.  Jaundice: hemolytic.  Pigmentation.  Scratch marks: lymphoma and myeloproliferative disorders.

2. Hand:  Koilonychias: sever iron deficiency  Pallor of palmar creases: hemoglobin level is anemia. less than 8.1 g/dl.  Digital infarction: abnormal globulins.  Arthropathy: hemophilia.  Gouty tophi 3. Pulse: Tachycardia.

4. Lymph nodes:  Epitrochlear.  Supraclavicular.  Axillary.  Inguinal.  Cervical.

5. Face:  Eye: o Jaundice, hemorrhage, injection. o Conjunctival pallor: more reliable than nail beds or palmar creases for diagnosing anemia. o Fundus examination.  Mouth: o Hypertrophy of the gum: leukemic cell infiltration. o Gum bleeding. o Ulceration, infection and hemorrhage of buccal and pharyngeal mucosae. o Atrophic glossitis: megaloblastic anemia, iron deficiency anemia. o Waldeyer's ring enlargement: Hodgkin's lymphoma.

6. Bony tenderness:  Spine.  Shoulders.  Sternum.  Enlarging marrow due to infiltration by  Clavicles. myeloma, lymphoma or carcinoma may the cause of tenderness. 7. Abdominal examination:  Hepatomegaly.  Paraaortic adenopathy: lymphoma,  Splenomegaly. lymphatic leukemia.

8. Legs:  Bruising.  Popliteal node.  Pigmentation.  Neurological abnormalities.  Scratch Marks.  Palpable pleura: Henoch-schonlein purpura.  Leg ulcer: hemolytic anemia.

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Important topics

IRON-DEFICIENCY ANEMIA

What is it? Hemoglobin (Hgb) level below 95% of the normal for age that is caused by the lack of iron; it is the most common cause of childhood anemia. Full term infants exhaust iron reserves by 6 months age, but preterm infants have lower reserves, therefore exhausted by 2-3 months of age, so Iron deficiency is rare in children <6 months in the absence of blood loss or prematurity

Normal Hg values by Age:

Age Hg Range (g/L) New born 137-201 2 weeks 130-200 3 months 95- 145 6 months - 6 years 105 -140 7-12 years 110-160 Adult female 120-160 Adult male 140-180

What are the 2 causes? 1. Inadequate iron in diet: - "milk baby" -baby (9-24 months old) receiving large volumes (>20 oz per day) of cow's milk usually by bottle leading to poor intake of iron-rich foods - formula without iron - delayed introduction of iron fortified infant cereal 2. chronic blood loss - iatrogenic: repeated blood sampling (especially in hospitalized neonates) - true cow's milk protein allergy: occult bleeding and protein-losing enteropathy secondary to GI inflammation (e.g., from peptic ulcer, inflammatory bowel disease, Meckel diverticulum, polyp, hemangioma) - repeated heavy bleeding with menses

What is the physiologic effect? Decreased production of heme proteins involved in oxygen transport (Hgb), electron transport (cytochromes), and oxidative metabolism (NADH)

What are the common signs and symptoms? Usually asymptomatic until marked anemia, pallor, fatigue, shortness of breath, pica (ingestion of nonfood substances, such as ice, paper, dirt, or clay), spoon-shaped nails (koilonychia), enlarged spleen. If not severe, iron-deficiency anemia is usually suspected from results of routine laboratory screenings.

What are the 4 findings of a CBC in iron-deficiency anemia? - Hypochromic, microcytic RBCs; decreased reticulocytes, decreased mean corpuscular volume (MCV), decreased mean corpuscular hemoglobin (MCH) - Mentzer index (MCV /RBC) can help distinguish iron deficiency anemia from thalassemia, ratio < 13 suggests of thalassemia; ratio > 13 suggests iron deficiency

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What are the 4 effects on the indices of iron storage and transport? Decreased iron, ferritin, and transferring saturation; increased total iron-binding capacity

Why are free erythrocyte protoporphyrins (FEPs) increased? Low iron concentration limits the production of Hgb. FEPs are heme precursors that accumulate as a result.

List 3 investigations that may be helpful to detect occult blood loss. Stool guaiac test for occult blood, urinalysis, a careful menstrual history

How may iron-deficiency anemia be diagnosed if other tests and investigations are equivocal? By the child’s response to a trial of iron Administration

List 2 treatments. 1. Oral therapy with elemental iron (3 mg/kg per day for 3–4 months); reticulocyte response should be seen in 1–2 weeks 2. Determine and correct the etiologic factors of iron deficiency

What are the potential side effects of oral iron administration? Nausea, abdominal pain, constipation, stained teeth

What is the result if deficiency is not corrected? Psychomotor and cognitive delays may result.

THALASSEMIA

What is it? The thalassemias are a group of inherited anemias caused by gene mutations that affect the synthesis of Hgb chains. Clinical syndromes vary in severity

Who is most commonly affected? - α-Thalassemia is more common in people of Asian and African ancestry - β-Thalassemia is more common in people of Mediterranean and African ancestry

What is the pathophysiology? Decreased or absent synthesis of α or β chains leads to increased amounts of rare Hgb compared with normal Hgb. Severe forms of thalassemia lead to hemolysis and ineffective RBC production in the bone marrow

How many α -globin genes are normally present? Normally, there are 4 α - globin genes (2 on each homologous chromosome 16). Therefore, there can be different combinations of α -globin gene abnormalities

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List 4 types of α -thalassemia and their characteristics. - Silent carrier. (1/4 genes affected): hematologically normal; electrophoresis normal - Thal trait. (2/4 genes affected): mild anemia, decreased MCV, presence of target cells, electrophoresis normal - Hgb H disease. (3/4 genes affected): moderate hemolytic anemia, decreased MCV, presence of target cells, splenomegaly, electrophoresis reveals Hgb A and H (β4) - HgB Barts. (4/4 genes affected): results in hydrops fetalis and fetal death, electrophoresis reveals Hgb H and Hgb Barts (γ4)

List 4 types of β-thalassemia and their characteristics. β-Thalassemia is more heterogeneous. Severity is based on the specific mutation in a gene rather than the number of genes affected. - Silent carrier: hematologically normal, electrophoresis normal - Thal trait: mild anemia, decreased MCV and MCH, presence of target cells, electrophoresis reveals increased Hgb A2 and F - Thal intermedia: severe anemia without transfusion requirement, decreased MCV and MCH, presence of target cells, electrophoresis reveals increased Hgb A2 and F - Thal major: severe anemia with transfusion requirement, decreased MCV and MCH, presence of target cells, growth retardation, bone deformity, hepatosplenomegaly, electrophoresis reveals increased Hgb A2 and F

List 3 common diagnostic studies for thalassemia. CBC, Hgb electrophoresis, measurement of α and β chain biosynthesis

What are the treatments? o Mild syndromes: Folic acid supplementation, avoidance of oxidant drugs, transfusion if necessary o Severe syndromes: Folic acid supplementation, transfusion protocol with chelation of iron, splenectomy if hypersplenism develops, bone marrow transplantation

What are the common complications? Cholelithiasis, increased susceptibility to infection, bone marrow hyperplasias with bone deformity, Cooley’s facies, “hair-on-end” skull radiograph; liver, endocrine, and cardiac abnormalities associated with iron overload

SICKLE CELL DISEASE

What is it? Hemoglobinopathy in which α chains are normal, but β chains are abnormal because valine is substituted for glutamic acid at position 6 of the β chain

Who is most commonly affected? People of Central African, Mediterranean, and Indian descent, but sickle cell disease can be seen in any population

What is the pathophysiologic effect? Hgb S forms polymers within red cells, causing sickling of the cells when Hgb is deoxygenated. This sickling causes sludging and obstruction in vessels with subsequent tissue hypoxia

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List 5 common phenotypes associated with hemoglobin S and their characteristics. 1. Sickle trait: Hgb AS; not associated with increased morbidity and mortality rates 2. Sickle disease: Hgb SS; clinically variable in severity from mild to debilitating 3. Sickle SC disease: Hgb SC; mild chronic hemolytic anemia with variability in complications from vaso-occlusion; splenomegaly 4. Sickle β-thalassemia: two forms, β+ (Hgb A is produced) and βo (Hgb A is not produced); sickle βo -thalassemia (i.e., no Hgb A produced) is clinically similar to Hgb SS; splenomegaly 5. Sickle α-thalassemia: variable clinical Picture

What 3 diagnostic studies are used, and what do they show? 1. CBC: decreased Hgb, normal MCV if not thalassemic 2. Blood smear: sickled forms, target cells, Howell-Jolly bodies 3. Hgb electrophoresis: Sickle disease: 80–100% Hgb S, 0–20% Hgb F

Sickle SC disease: 50% Hgb S, 50% Hgb C Sickle β-thalassemia: 75–100% Hgb S, 0–20% Hgb F, 3–6% Hgb A2 Sickle α-thalassemia: 80–100% Hgb S, 0–20% Hgb F

List 5 clinical manifestations of sickling hemoglobinopathies. 1. Vaso-occlusion causing pain in bone, hand and foot (“hand-foot syndrome”), abdomen, or chest. Patient may also experience cerebral vascular accident (CVA) or priapism. 2. Splenic sequestration 3. Aplastic crisis 4. Infection caused by decreased opsonins and splenic function. Infection is the most common cause of death in children with sickle cell disease. Common organisms include pneumococci, Haemophilus influenzae, Salmonella, and Mycoplasma. 5. Acute chest syndrome

What is acute chest syndrome? A serious complication of sickle cell disease. It is one of the most common causes of death in these patients

List 3 causes. Infection, pulmonary fat emboli, and pulmonary infarction. However, many episodes do not have an identifiable cause.

List 6 symptoms. The symptoms may include cough, wheezing, fever, chest pain, extremity pain, and dyspnea.

What are the treatments? - Prophylaxis (vaccines against influenza virus, H. influenzae, S. pneumoniae) - For clinical cases: hospitalization for antibiotics, bronchodilators, supplemental oxygen, transfusions - Bronchoscopy should be considered if there is no clinical response to initial therapy.

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What are the treatments for the following clinical manifestations? o For vaso-occlusive crisis: Hydration and pain medications o For CVA: Exchange transfusion with chronic transfusion protocol to keep Hgb S < 30% o For splenic sequestration: Emergent transfusion with subsequent Splenectomy o For aplastic crisis: Supportive care; transfusion if necessary o For infection: Appropriate antibiotics, penicillin prophylaxis, vaccines for S. pneumoniae, H. influenzae, N. meningitides

What are the common progressive complications? o Cardiovascular: Cardiomegaly and cardiomyopathy secondary to iron overload and chronic anemia o Pulmonary: Progressive disease with infarcts and Infections o Hepatic: Cholecystitis, hepatitis o Renal: Hematuria, hyposthenuria, Glomerular and tubular fibrosis o Ophthalmologic: Retinopathy o Skeletal: Codfish vertebrae, aseptic necrosis

What are the common progressive complications? o Cardiovascular: Cardiomegaly and cardiomyopathy secondary to iron overload and chronic anemia o Pulmonary: Progressive disease with infarcts and Infections o Hepatic: Cholecystitis, hepatitis o Renal: Hematuria, hyposthenuria, Glomerular and tubular fibrosis o Ophthalmologic: Retinopathy o Skeletal: Codfish vertebrae, aseptic necrosis

GLUCOSE-6-PHOSPHATE DEHYDROGENASE (G6PD) DEFICIENCY

What is glucose-6-phosphate dehydrogenase (G6PD)? G6PD is a dehydrogenase involved in the pentose phosphate pathway, which is important in NADPH production. It converts glucose-6-phosphate to 6-phosphoglucono-δ-lactone. It maintains NADPH, which in turn maintains reduced glutathione that cleans up free radicals in cells

What causes its deficiency? Mutation in the G6PD gene on the X chromosome. G6PD deficiency is an X-linked recessive disorder

What is the physiologic effect of G6PD deficiency? In the RBC that is deficient in G6PD, oxidative stress depletes NADPH and oxidizes glutathione with subsequent oxidative damage to the cell membrane, leading to hemolysis.

What are the common signs and symptoms? An asymptomatic child with G6PD deficiency usually has normal hematologic variables, but when faced with oxidative stress, the child may have jaundice, hemoglobinuria, splenomegaly, and anemia.

What are some oxidative triggers? Fava beans, infections, and certain drugs (e.g., sulfas, antimalarials, analgesics)

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What diagnostic study is used? Measurement of G6PD activity in RBCs of reticulocyte-poor blood

What is the treatment? Usually supportive; with severe hemolysis, transfusion is occasionally necessary.

10 COMMON PAEDIATRIC SKIN CONDITIONS

1) ATOPIC DERMATITIS (ECZEMA):

What is it? Is a common inflammatory condition of the skin characterized by intense itching (pruritis) and associated with atopy (eczema, asthma and allergic rhinitis), it has a strong familial association and is very common in kids (affecting 5-20% of children worldwide)

What is the clinical presentation? - Pruritis is typically the most outstanding clinical feature and secondary lesions due to chronic rubbing and scratching are very common. - The appearance of lesions can be varied and may present with any of the following: o xerosis (dry, scaly skin) o ill-defined erythema o small coalescing edematous papules or vesicles o lichenification and/or excoriations (secondary to relentless scratching) o crusting (if secondarily infected)

What are the age-related stages of atopic dermatitis? Infantile (2 months – 2 years) o Often pruritic, red, scaly or crusted lesions o Facial and extensor distribution predominates, especially cheeks and scalp o Entire body may be affected, however diaper area is commonly spared Childhood (2-12 years) o Greater lichenification and excoriations o Often has a flexural distribution – antecubital and popliteal fossae, wrists and ankles Adult (>12 years) o Typically lichenified and more localized (primarily to the hands) o Flexural areas commonly involved o The condition generally improves with age and may remit by early adulthood

How the diagnosis made? 1. Evidence of pruritis (eg. scratching or rubbing reported by parent) 2. Plus three or more of the following: o Involvement of skin creases (antecubital or popliteal fossae, ankles, neck, eyes) o Dry skin within the past year o Visible involvement of flexural surfaces (cheeks, forehead, outer extremities) o Symptoms beginning in a child before two years age (this criterion not used for children under four)

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What is the treatment? - Avoidance of irritating factors - Emollients and moisturizers to re-establish the cutaneous permeability barrier - Topical glucocorticoids (creams or ointments) - Topical immunomodulators (eg. Tacrolimus) - Antibiotics if staphylococcus infection - Oral antihistamines for sedation & control of itching

2) SEBORRHEIC DERMATITIS (CRADLE CAP):

What is it? Greasy yellow scale on erythematous base, common on scalp, eyebrows, ears, diaper area & in skin folds, affected regions may also develop fissures, weeping & maceration, may persist until 1 year of age

What is the cause? Specific cause unknown

What is the treatment? Requires no treatment, however, anti-seborrheic shampoos or topical steroids may speed resolution

3) TRANSIENT NEONATAL PUSTULAR MELANOSIS:

What is it?

A 2-5mm pustule with hyperpigmented, non-erythematous base, over time develops central crust & leaves hyperpigmented macules with collarette of white scale. Typically present at birth & Occurs in 4% of infants, more common in dark skinned infants, Occurs in 4% of infants, more common in dark skinned infants

What is the cause? Specific cause unknown

What is the management? It is Benign & self-limited, Pustular lesions resolve within 24-48 hours, hyperpigmented macules fade over weeks/months

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4) ERYTHEMA TOXICUM NEONATORUM:

What is it? Most common rash in infants, seen in up to 50% of newborns, begins as blotchy macular erythema, and progresses to pustular/papular rash over trunk, face & extremities. Usually appears on 2nd/3rd day of life, can appear as late as 2-3 weeks. Distinguished from infection by lack of tenderness, warmth, or induration

What is the treatment? Requires no treatment, self-resolving, typically by 5-7 days after appearance, usually by 2 weeks age

5) MILIARIA/HEAT RASH/PRICKLY HEAT:

What is it? 1-3mm erythematous papules (miliaria rubra), pustules (miliaria pustulosa) or crystal-clear vesicles resembling water droplets (miliaria crystallina). Appear on face, scalp and trunk. Common, particularly in infants and children because of underdeveloped sweat glands What is the cause? Due to obstruction of eccrine sweat ducts with leakage of sweat into dermis/epidermis, occur secondary to heat (eg. warm climates) in skin areas with high heat generation or covered by clothing

What is the management? Self-resolving, can be hastened by removal of wraps/clothing

6) MILIA:

What is it? Multiple 1-3mm, white-yellow papules on nose, chin & cheeks, Keratin filled epithelial cysts. Common (50% of infants)

What is the treatment? Benign, self-resolving, require no treatment

7) NEONATAL ACNE:

What is it? Open & closed comedones (papules/pustules), on face and upper trunk. Common (20% of infants), Often present at birth or develops in second to third week of life

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What is the cause? Thought to be due to androgens (maternal & infant)

What is the treatment? Self-resolving, usually by three months age, require no treatment

8) IMPETIGO:

What is it? Contagious bacterial infection of epidermis, can affect any skin region, transmitted by direct contact with infected persons or fomites. Clinical diagnosis, confirmed by gram stain or culture of crust or fluid from bullae

What are the types of impetigo? - Primary impetigo: more common in children, infection via minor breaks in skin - Secondary impetigo: any age, secondary infection of trauma/wounds

What are the clinical features? - Bullous impetigo o Always caused by S. aureus, o Can affect intact skin o Vesicles and flaccid bullae (large vesicles) contain clear yellow or slightly turbid fluid +/- surrounding erythema o Common in neonates and children <5 years o Systemic symptoms common - Nonbullous impetigo o More common than bullous o Usually due to S. aureus or S. pyogenes o Typically affects trauma sites o Scattered discrete 1-3cm lesions with honey-coloured crust and surrounding erythema o Most common around mouth/nose o Patients may have lymphadenopathy

What is the treatment? - Local infections treated with topical saline or aluminium acetate, then 2% mupirocin ointment - If systemic symptoms present, use beta-lactamase resistant antiobiotic eg. Cephalexin - If impetigo due to MRSA use Clindamyci

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9) DIAPER RASH:

What is it? It is a general term describing any of a number of inflammatory skin conditions that can occur in the diaper area

What are the categories of diaper rash? - Rashes that are directly or indirectly caused by the wearing of diapers and are often the result of poor hygiene - Rashes in this category include contact dermatitis resulting from sensitivity to diaper fabric, soaps used in laundry, dyes, lotions, etc - Rashes that appear elsewhere but can also occur in the groin and perineum and can be exaggerated due to the irritating effects of wearing a diaper

What is the incidence? Diaper rash is the most common dermatitis found in infancy. Prevalence has been variably reported from 4-35% in the first 2 years of life; incidence triples in babies with diarrhea

What is the treatment? - The best treatment for diaper rash is avoidance of the precipitating agents which led to the contact irritation - Frequent diaper changes limit stool and urine exposure to the area - Frequent application of one of the many diaper-area ointments containing either petroleum jelly (Vaseline) or zinc oxide (Desitin) provides an effective barrier against skin irritants and lessen friction to irritated skin - open-air exposure of the irritated skin is also extremely effective in helping clear up diaper rash

10) ACNE IN TEENS:

What is it? Acne is an inflammatory condition of the pilosebaceous units, most often affecting the face and trunk, manifesting itself as comedones, papulopustules or nodules and cysts

What is the classification of acne?

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What are the differential diagnoses? - Rosacea - Pseudofolliculitis barbae - Peri-oral dermatitis - Keratosis Pilaris - Folliculitis

COMMON BIRTHMARKS

1) MONGOLIAN SPOTS/SLATE-GREY NEVUS OF CHILDHOOD/DERMAL MELANOSIS

What is it? Bluish grey patches over buttocks/back/legs may look like bruises. Common in dark skinned infants

What is the cause? Due to atypical presence of melanocytes within the dermis

What is the treatment? Tend to fade over 1st year of life, so requires no treatment

2) HEMANGIOMA OF INFANCY/CAPILLARY HEMANGIOMA/STRAWBERRY NEVI

What is it? raised pink/red/purple lesion, soft, compressible. Most common tumour of infancy; up to 10% in Caucasians. Develop in first weeks of life & represents clonal expansion of endothelial cells; usually grow rapidly from 6 months – 1 year of age, up to 3 inches diam

What is the treatment? Treatment with steroids/interferon/laser indicated only if multiple, very large or interferes with function. Tend to fade/shrink with time, 50% by 5 years, 90% by 9 years, often disappearing completely

3) PORT-WINE STAIN/NEVUS FLAMMEUS

What is it? Flat pink/red/purple patches, typically on face, neck, limbs. Present at birth & can be any size, grow proportionately with child & may thicken or develop bumps which lead to social/emotional complications. Some association with glaucoma & seizures

What is the treatment? Do not resolve, are permanent, Laser treatment may be an option

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4) SALMON PATCH/ANGEL KISS/STORK BITE/NEVUS FLAMMEUS NUCHAE

What is it? Minor vascular malformations - Macular stains, flat, pink capillary hemagioma, often seen on eyelids, forehead & nape of neck. Occurs in up to 1/3 of all newborns

What is the treatment? Harmless, no treatment required. Facial lesions usually fade over years, neck lesions may persist into adulthood

HENOCH-SCHONLEIN PURPURA (HSP)

What is it? It's the most common vasculitis (small vessels) of childhood; often have history of URTI 1-3 weeks before onset of symptoms

What is the clinical presentation? - skin: palpable, non-thrombocytopenic purpura in lower extremities and buttocks, edema, scrotal swelling - joints: arthritis/arthralgia involving large joints - GI: abdominal pain, GI bleeding, intussusception - renal: IgA nephropathy, hematuria, proteinuria, hypertension, renal failure in <5%

What is the treatment? - Symptomatic, corticosteroids may relieve abdominal pain - Monitor for renal disease, may develop late - Immunosuppressive therapy for severe renal disease

How is the prognosis? Self-limited disease in 90%

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References:

- Mansour N. Alhwasi, Manual of clinical pediatrics, 4th edition - Pediatrics Recall, 4th edition - Toronto Notes 2011 – Pediatrics - Illustrated textbook of pediatrics, 4th edition - Elizabeth K. Albright, Current Clinical Strategies, Pediatric History and Physical Examination, 4th edition - 424 booklet: Your Guide to History Taking and Physical Examination - Nicholas Talley and Simon O`Connor, Clinical Examination, 6th edition - The Harriet lane handbook, 19th edition - http://learnpediatrics.com/

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