Dr. Waites Diseases of Infancy and Childhood Page 4 of 7

FUN2: 11:00-12:00 Scribe: Brittney Wise Monday, November 24, 2008 Proof: Joan-Marie Manolakis Dr. Waites Diseases of Infancy and Childhood Page 1 of 7 RDS – Respiratory Distress Syndrome

I. Introduction [S1]: These are other conditions that can affect infants and children. The things that go wrong in kids are different than the things that go wrong in adults. II. Terminology [S2] – clinician needs to be able to observe patients conditions while using the appropriate terminology a. Neonatal (neonate) period – 1st 4 weeks of post-natal life, 28 days, or 1 st month of infancy b. Infancy – 1st 12 months of post-natal life (childhood is the time from 1 year until the onset of puberty) c. Adolescence – onset of puberty to growth cessation d. Immature Infant: <1000g for birth weight; <28 weeks of gestation (very small infants) e. Pre-term infant: <37 weeks; <2500g i. Includes the immature infants and all infants that are less than 37 weeks of gestation or 2500g f. Post-term infant: <42 weeks of gestation g. Each one of these periods can have specific problems associated with it III. Causes of Prematurity [S3] – prematurity is a significant problem and about 10% of all pregnancies may end up in a pre-term delivery; there are a lot of reasons that women would go into labor before there term completes; some of the most important reasons that women go into labor prematurely is due to infections; the infections can be either intra- amniotic fluid by microorganisms that cause infection and inflammation in the placenta that can stimulate phospholipases to be produced there and allow for uterine contractions to start; infections are a very important cause of prematurity a. Chorioamnionitis (infection/inflammation of the chorion and amnion) b. Premature/prolonged rupture of membranes – can stimulate pre-term labor (may be due to infection) i. Pre-mature rupture – rupture before the pregnancy is completed ii. Pro-longed rupture – < 48 hours because this can also make it likely for infections to occur c. Multiple gestations – multiple births can also stimulate pre-term labor d. Cervical incompetence – cervix doesn’t stay closed as long as it should this is another reason for pre-term labor e. Placental abnormalities i. anything that’s wrong with the placenta such as an abnormal implantation, a structural abnormality, a premature separation of the placenta is very important because the placenta is the lifeline of the developing fetus that provides the nutrients and the circulation from the mother to the baby ii. Any time something goes wrong with the placenta there will always be a risk for pre-term labor or be some other growth problem that goes wrong with the developing fetus; f. Prematurity is a major cause of a lot of health care, because babies that are born pre-mature have a lot of medical problems and have to stay very long in a Neonatal ICU (expensive) g. There’s a lot of research going on regarding the cause and treatment of prematurity to try to improve pregnancy outcomes and improve the outcomes of the neonates born; smaller and younger babies are being saved due to better care in ICU IV. Immaturity of Organ Systems [S4] – a problem with pre-term babies because they are not ready to survive being outside the uterus yet a. Liver – physiologic jaundice of newborn i. liver is a very important organ and is actually a hematopoetic organ for the fetus during gestation (the bone marrow takes over later to provide the source for blood cell development after birth) ii. Liver is also important in the breakdown of fetal RBC’s; if the liver is not mature when the baby is born the fetus will have problems with the breakdown of RBC’s and the excretion of bile; this is one of the reasons that you can get physiological jaundice of the newborn (a build-up of billirubin due to lack of liver function) 1. High levels of billirubin can precipitate into the brain and form a condition known as “kernicterus” iii. Biliary excretion b. Respiratory Distress Syndrome – relates to immaturity of the lungs; complications of the lungs can result in bronchopulmonary dysplasia (talks about this later) i. Bronchopulmonary Disease V. Immaturity of Lungs [S5] – where air exchange takes place; there are 2 types of cells in the lining of the lung a. Type 1 pneumocytes – predominant cells lining the alveolus (where gas exchange takes place) at the capillary alveolar air interface; this is where the gradient takes places i. the capillaries bring the un-oxygenated blood to the lung where fresh O2 diffuses across the gradient into the capillaries to oxygenate the blood b. Type 2 pneumocytes (cuboidal cells that make a phospholipid called surfactant) i. Surfactant is necessary to do adequate ventilation ii. It lines the alveoli and keeps the lungs from collapsing when you exhale FUN2: 11:00-12:00 Scribe: Brittney Wise Monday, November 24, 2008 Proof: Joan-Marie Manolakis Dr. Waites Diseases of Infancy and Childhood Page 2 of 7 iii. In the lungs you have negative intrathoracic pressure; when you take a deep breath your lungs expand because of the elastic tissue present and when you exhale the elastic tissue in your lungs contracts so you can expel air iv. It reduces surface tension in the alveoli v. the problem in the premature infants is the type 2 pneumocytes do not develop completely until the last trimester of pregnancy; if you don’t have enough type 2 pneumocytes that are making surfactant, when the baby exhales the lungs will collapse; this is known as atelectisis c. Atelectisis – lungs will collapse due to a lack of surfactant; babies will struggle to breath and make a grunting noise because they are trying to expand their lungs to increase pressure in their lungs; you may see their ribs retract because they are trying to expand their lungs; this makes them very tired because they don’t have a very large muscle mass and they can just stop breathing all together VI. Pathogenesis of RDS [S6] a. If the lungs collapse you can’t get enough air in the lungs and so you have hypoventiliation; hypoventilation leads to lower O2 tensions in the blood stream and retention of CO2 because the CO2 that’s in the blood stream cannot be gotten rid of. This will lead to respiratory acidosis. This leads to vasoconstriction which will further reduce the supply of blood flow to the lungs; ultimately what happens is you damage the capillary endothelium and ultimately you will have plasma leaking into the alveoli b. When plasma leaks into the alveoli, fibrin leaks too and with the necrotic cells from the epithelium (necrotic because they lacked blood) you will form what is referred to as hyaline membranes (large pink material in the slides that lines the alveoli). This further aggravates things because it interferes with the alveolar air exchange c. Respiratory Distress Syndrome results from this (or Hyaline Membrane Disease). This will take place until the baby produces enough surfactant to reverse the problem (so the baby can overcome this problem). If the baby is very small it is not ready to produce surfactant and they can go under respiratory failure and need mechanical ventilation. d. If the baby is too young it won’t be able to make surfactant and will go into respiratory failure e. Artificial surfactant can be used by putting it into the lung through an endotrachial tube; it helps things along until the baby can start producing surfactant. f. Problem you run into is if you have a baby with severe RDS or Hyaline Membrane Disease, the baby has to have O2 treatment to help improve the oxygenation of the tissues, and if they have to have mechanical ventilation to give pressure in the lungs to keep the lungs open, you run the risk for O2 toxicity (free radicals from the O2 that can damage the lungs). g. This can ultimately lead to a fibrotic process known as “bronchopulmonary dysplasia”. Again, this is caused by O2 damage i. Important for optometrists because the oxidative damage can cause damage in the eye (retina). Any pre- term infant that has to have treatment with oxygen and mechanical ventilation during the neonatal period it has to have a thorough ocular exam before they are discharged from the hospital (they are followed up appropriately to follow their vision problems, because you can have permanent vision problems). ii. This is an iatrogenic condition because it was caused by the oxygen damage. VII. Immaturity of CNS [S7] – a. look at this little brain here of a 7 month fetus; you don’t see the well developed sulcal and giral arrangement that you see in a more mature brain; problem is that at the time of delivery the brain is very delicate because of a rich matrix of blood vessels that line the ventricles of the brain. b. Because the bones in the skull have not developed fully (because the brain is too small) as the baby passes through the birth canal the head is compressed. In an older infant that’s closer to term the skull bones have developed better and they have protected the brain. c. This can lead to tearing of the blood vessels lining the ventricles of the brain and you can get an intraventricular hemorrhage because blood leaks out into the ventricles in the brain. If you have a severe condition, what we refer to as a grade 4 hemorrhage it’s not only leaked into the ventricles it’s actually spread into the brain tissue. d. This can damage the brain significantly and lead to a lot of neurological problems. All of the blood that accumulates in the ventricles of the brain can plug up the aqueduct at the 4th ventricle and this can impair the circulation of cerebral spinal fluid. This is a condition called “hydrocephalis" (this is where the brain starts swelling because cerebral spinal fluid circulation gets blocked). e. You can have impaired motor/cognitive functions if there is loss of function in the brain due to the hemorrhage. f. The immaturity of the central nervous system also leads to decreased muscle tone and inability to regulate body temperature because all of these functions have not been developed properly. g. The brain, lung, and liver are the 3 most important organs that can have problems if the baby is born too soon. h. Necrotizing Entercolitis [S8] – complication in the GI tract i. Asphyxia: Perinatal asphyxia (GI tract cells can become ischemic and die) FUN2: 11:00-12:00 Scribe: Brittney Wise Monday, November 24, 2008 Proof: Joan-Marie Manolakis Dr. Waites Diseases of Infancy and Childhood Page 3 of 7 i. Intestinal ischemia can result from a low amount of O2 reaching the baby as a result of a difficult pregnancy (placenta may have separated too soon, there could be a kink in the umbilical cord); we replace the epithelial cells in our GI tract every 3 days ii. Bacterial colonization occurs normally after birth and if you have damage to the epithelia in the GI tract the bacteria that will normally be colonizing the GI tract can actually colonize the tissue. This is aggravated if you feed these babies formula too early. When you have a pre-term baby it’s given IV fluids for a few days until the gut can regenerate iii. Formula feeding 1. Distended abdomen and bloody diarrhea will result from necrotizing entercolitis 2. Pneumatosis intestinalis – shown in the x-ray on the slide and is characterized by having gas building up in the stomach due to the bacteria there that are producing gas 3. Pericronitis – this can be treated medically in some cases but in the most severe cases the gut can actually perforate and you can get a pericronitis and of course this is a medical emergency and sometimes they have to remove part of the babies GI tract 4. Necrotic bowel (duodenum) is shown in the picture on the slide. iv. Studies at UAB are trying to fix this in pre-term babies by using pro-biotics, giving babies cultures of lactobacillus and bifdobacterium (in their formula) which are normal flora bacteria to see if babies with these bacteria actually can prevent the pathogenic bacteria from getting in there and causing disease. VIII.Intrauterine Growth Retardation [S9] –things that keep babies from growing as much as they should during gestation a. < 10th percentile for gestational age – this is how you define intrauterine growth retardation b. May affect 1/3 of births (especially in high risk populations) c. Causes: (maternal nutrition not being the least of these) i. Placental (abruption, infection, previa) – any types of placental abnormality where you have a premature separation, infection, or an abnormal implantation “placenta previa”; anything that goes wrong with the placenta will affect the babies growth because this is where the nutrients from the mother come from ii. Fetal (anomalies, genetics, infection) – anything like this can impair growth d. Maternal (hypertension, drug abuse, smoking) – these 3 things can also cause a baby to not grow fully even if they can be carried to term IX. Apgar Score [S10] – Virginia Apgar (anesthesiologist) a. 5 parameters measured at 1 & 5 minutes after birth in the delivery room – total score of up to 10 points b. Correlated with perinatal outcome (how well baby will do in neonatal period) c. Measurements: (1) heart rate, (2) spontaneous respiratory effort, (3) color (whether the baby is pink or cyanotic), (4) muscle tone, (5) response to noxious stimuli i. There are 2 points possible that can be given for the 5 characteristics above; the higher the apgar score the better or more likely the baby is going to have a uneventful/healthy neonatal period ii. A baby with a strong HR greater than 100 BPM, that’s breathing on its own, that’s nice and pink, has good muscle tone and responds well to noxious stimuli should be a nice healthy baby. X. Causes of Death [S11] a. Under 1 year – most common causes are things that happen during pregnancy i. (1) Perinatal conditions (2) Congenital anomalies (3) Sudden infant death syndrome (4) infection b. 1-4 years (past 1st year you start looking at other things like injuries; this is often due to lack of parent care) i. (1) Injuries (2) Congenital anomalies (3) Neoplasia (some of the childhood cancers) (4) Homicide (5) Heart disease (congenital or not) c. 5-9 years (a lot of the same things that you saw during 1-4 years) i. (1) Injuries (2) Neoplasia (3) Homicide (4) Congenital anomalies (5) Heart disease d. 10-14 years i. (1) Injuries (2) Homicide (3) Suicide (comes into play here in the teenage years) (4) Congenital anomalies (5) Neoplasia XI. Causes of Home Injuries to Children [S12] – these are the most common accidents that cause injuries to children a. (1) Fires (2) drowning (3) suffocation (4) firearms (5) falls (6) poisoning XII. Congenital Malformations [S13] – these are things that happen early in gestation that cause defects in development of the organs (morphogenesis) a. Primary intrinsic defects in morphogenesis i. Usually occur in 1st trimester during organogenesis ii. Congenital malformations can be present in up to 3% of births iii. 2/3 of the time you have no known cause and no idea that this was going to happen iv. May or may not be inherited (may or may not be genetic) v. These can affect any organ system FUN2: 11:00-12:00 Scribe: Brittney Wise Monday, November 24, 2008 Proof: Joan-Marie Manolakis Dr. Waites Diseases of Infancy and Childhood Page 4 of 7 vi. Common causes are: 1. Genetic conditions (chromosomal, multifactorial) 2. Single gene mutation 3. Maternal disease (diabetes, TORCH infections [Toxoplasmosis - Other/None of the above/could include congenital syphilis - Rubella – Cytomegalavirus - Herpes virus]) 4. Drugs, chemicals 5. Radiation XIII.Cardiac Malformations S14] – we will get this more in detail when we start organ systems a. Septal defects (ventricular septal defect where the septum doesn’t close separating the left and right ventricle) b. “plumbing defects” c. Many others XIV. Anencephaly: no brain tissue [S15] –brain never develops; incompatible with life; babies can be carried to term alive but they will usually die a few hours later; commonly seen as a condition that leads to intrauterine fetal devise where the baby dies in utero and is never carried to full term; diagnosed by ultrasonigraphic examination or amniocentesis; if you have any type of neural tube defect you can get elevation of alpha-feta-protein in the amniotic fluid and when this is present you know that there is some type of neural tube development defect XV. CNS Malformations [S16] a. Encephalocele – herniation of brain through opening in skull b. Meningocele – herniation of meninges (dura, pia, and the arachnoid) through defect in skull or spinal column c. Meningomyelocele – herniation of neural & meningeal tissue through defect in spinal column d. Some babies are born like this because of a failure of the neural tube to close. e. If the neural tissue is exposed, there is an acute risk for infection with these situations. It must be closed immediately. f. Are there neurological deficits? That is the major question. If you have a neural defect like this, you may have paralysis of the lower extremities or lack of innervations of the bladder. There are many neurological consequences. g. Spinabiphita-neural defects are commonly referred to as this. XVI. GI Malformations [S17] a. Omphalocele – protrusion of intestine through defect in abdominal wall at umbilicus. i. This baby has an protrusion of intestine through a defect of the abdominal wall at the umbilicus b. Gastroschisis – incomplete closure of abdominal wall not involving umbilicus so viscera may protrude i. The viscera are exposed, so the surgeon has to stick it back in. It is a problem with the embryogenesis. XVII. Congenital CMV [S18] - Cytomegalovirus a. CMV is an important viral infection of pregnant women. If she gets infected while pregnant, it can cross the placenta. It may be asymptomatic and not cause problems to the baby. If it does, it causes significant problems. b. It’s sometimes called the “blue berry muffin syndrome” because of the little hemorrhages. CMV attacks the bone marrow. c. Thrombocytopenia d. Hepatosplenomegaly e. Mental retardation f. Microcephaly-the head is smaller than it should be g. Micrognaphism-receeding chin h. Blindness-if the optic nerves are infected i. Deafness-if it affects the 8th cranial nerve j. Can test the IGM level to see if it’s elevated k. Sometimes you can see the organism in the tissue - you can see the enlarged cells with the intranuclear inclusions in the thyroid l. Cytopathic/cytoprolific inflammation seen with some infections m. IMPORTANT CONGENITAL INFECTION THAT WE HAVE!!! XVIII. Congenital Rubella [S19] a. Rubella triad – (1) septal defects in the heart (2) deafness (3) cataracts b. It isn’t seen much anymore. It’s referred to as German Measles. If contracted during development, it can cross the placenta during the 1st trimester and infect the CNS causing cataracts, deafness, and impairing the heart. c. We don’t see it much anymore because of the vaccination. d. Previously they checked the mother to see if she had adequate rubella titer and if not, they’d give her a vaccine so she’d be immunized for subsequent pregnancies. e. Ventricular septal defects f. Deafness g. Cataracts FUN2: 11:00-12:00 Scribe: Brittney Wise Monday, November 24, 2008 Proof: Joan-Marie Manolakis Dr. Waites Diseases of Infancy and Childhood Page 5 of 7 XIX. Disruptions and Deformations [S20] a. Distinguished from malformations. They are problems from extrinsic disturbances that occur later in gestation and don’t affect morphogenesis. They can affect 2% of births this way. b. Not inherited. It isn’t passed from parent to child. c. Leiomyoma - a tumor of the uterus, it may impair development of the fetus d. Developmental anomalies due to mechanical factors – extrinsic disturbances i. Arise later in fetal life ii. Not inherited iii. Maternal factors – uterine constraint, leiomyoma iv. Fetal factors – oligohydramnios, multiple fetuses XX. Deformations Due to Oligohydramnios [S21] a. You don’t have enough amniotic fluid. b. The amniotic fluid bathes the lungs in the fetus and without enough it causes improper lung development. Much of the amniotic fluid is derived from the fetal kidneys. c. If you don’t have proper kidney development you don’t have proper fluid development so you don’t have proper lung development, and you have a lot of other problems. d. It is necessary to grow and move around. XXI. Renal agenesis “Potter’s Syndrome [S22] a. When the kidneys don’t develop. b. Flattened facial features c. Deformed hands and feet d. Low-set ears e. Incompatible with life-the babies may be born alive but die soon there after XXII. Pulmonary Hypoplasia Due to Oligohydramnios [S23] a. The lungs didn’t develop. They are very small because there wasn’t enough amniotic fluid. XXIII. Fetal Alcohol Syndrome [S24] a. This is why pregnant women shouldn’t drink. b. It may cause: i. Growth retardation ii. Mental retardation iii. Abnormal facies iv. Microcephaly-head doesn’t grow properly c. 2-6 oz alcohol/day during pregnancy puts fetus at risk d. Ethical dilemma: should a bartender sell alcohol to a pregnant woman? XXIV. Sudden Infant Death Syndrome [S25] a. This is always on the optometry board exam. b. SIDS – the sudden death of an infant under 1yr of age which remains unexplained after a thorough investigation c. 90% in 1st 6 months d. Most die at home at night after sleeping e. May have preceding upper respiratory infection f. Mother, infant, environmental factors-all things looked at and the answer is unknown XXV. Sudden Infant Death Syndrome [S26] a. It may relate to an abnormal conduction problem in the heart. The electrical impulses go wrong and cause the heart to stop (an arythmia). This physiologic problem is hard to identify in an autopsy. b. If you have one child with this, then there is at greater risk to have another child with this. c. Apnia monitors can be hooked up to the baby so it rings when the baby stops breathing or heart rate slows d. Not extremely common e. Maternal i. < 20 years, Unmarried, Short intergestation, Low socioeconomic, Smoking, Drug abuse, African-American? f. Infant i. Preterm, Low birth weight, Male, Multiple birth, Not 1st sibling, Sibling with SIDS XXVI. Cystic Fibrosis [S27] a. Disorder of epithelial transport affecting fluid secretion in exocrine glands and epithelial lining of respiratory, GI and reproductive tracts i. Autosomal recessive ii. 1/15,000-4000 births iii. More common in Caucasians (2-4% carriers) XXVII. Cystic Fibrosis Pathogenesis [S28] a. This is a disorder of epithelial transport affecting fluid secretion. FUN2: 11:00-12:00 Scribe: Brittney Wise Monday, November 24, 2008 Proof: Joan-Marie Manolakis Dr. Waites Diseases of Infancy and Childhood Page 6 of 7 b. You have a defect in chloride transport in the exocrine glands. c. It primarily manifests in the respiratory, reproductive and GI tracts. d. These kids have many problems: i. failure to thrive ii. they don’t grow properly - can’t digest the fat so you have fatty stool, lack of proteins so must supplement enzymes and vitamins iii. Lung problems are the worst problems that cause morbidity. Think Pseudemonas auregenosis. The lung secretions can’t get out of the lung because of the deficiency of iron. They get respiratory infection. iv. The treatment is now lung transplant. There is a relative large population in Birmingham. e. It is autosomal recessive condition. It is common in Caucasians with 2-4% being carriers. You must mate with someone else who carries the gene also to pass it along to the next generation (it is autosomal recessive). f. It has variable penetrance. Not all have the same degree of severity. It was previously fatal. Now it can be handled better. Respiratory infections are still a problem, but the better treatment of infection and supplementation of the enzymes they lack, they live longer. Those with lung transplants can live up to middle age now. g. It’s unlikely that someone with cystic fibrosis would reproduce because the problems in the secretions in the exocrine glands affect the development of sperm and eggs. They usually don’t have offspring of their own. h. Chloride ions are normally transported across epithelia through chloride channels i. In CF chloride channels are defective rendering cells impermeable to these ions j. Defect is caused by CFTR gene mutation on chromosome 7 k. Many different mutations (base pair changes) have been described and severity of disease is influenced by type of mutation XXVIII. Cystic Fibrosis [S29] a. High concentration of NaCl in sweat because cells lining sweat glands are impermeable and Cl and Na cannot be reabsorbed b. “Sweat Test” for diagnosis – “defect in chloride ion transport so would have increased amounts of chloride in the sweat. Can measure the Cl content in it and determine whether it’s present. XXIX. Cystic Fibrosis: Clinical Manifestations [S30] a. Intestinal obstruction also occurs-the baby doesn’t pass the meconium and it’s a concern for cystic fibrosis. b. Recurrent pulmonary infections c. Exocrine pancreatic insufficiency: i. Malabsorption ii. Steatorrhea iii. Malnutrition (failure to thrive) d. Hepatic cirrhosis e. Intestinal obstruction (meconium ileus) f. Male infertility g. Death in adolescence/early adulthood XXX. Pancreas in Cystic Fibrosis [S31] a. note the large dilated cystic areas with the secretions i. Blockage - “cystic fibrosis” - blockage of the secretions leads to atrophy and fibrosis of the pancreas b. Cystic dilatation of exocrine ducts with eosinophilic viscid secretions that may eventually plug ducts and cause atrophy and fibrosis XXXI. CF Lung Pathology [S32] a. The viscid secretions throughout the lung accumulate. b. Ultimately it causes respiratory failure without proper treatment. c. The lung disease is ultimately what kills these people. A lung transplant can really help these people live longer. d. Impaired Cl transport e. Na & water are absorbed from airway into blood f. Water content of mucus decreases g. Mucociliary action decreases h. Viscid secretions accumulate i. Airways become obstructed j. Infection occurs k. Excess inflammatory response further damages lung leading to bronchiectasis and respiratory failure XXXII. Benign Tumors: Hemangiomas [S33] a. Capillary plexuses-that can occur on the skin b. Referred to as a ”stork bite” c. They may go away as the child gets older. FUN2: 11:00-12:00 Scribe: Brittney Wise Monday, November 24, 2008 Proof: Joan-Marie Manolakis Dr. Waites Diseases of Infancy and Childhood Page 7 of 7 d. They are mostly cosmetic significance only e. The most common tumors of infancy f. May spontaneously regress g. Usually cause only cosmetic significance XXXIII. Sacrococcygeal Teratoma [S34] - A tumor of all three germ layers XXXIV. Leukemias [S35] a. Malignant diseases of white blood cells and their progenitors b. Many of these affect the lymphocytic or granuloma cell lines. c. They are the most common malignant diseases in children and cause more deaths than all types of cancers combined. d. Trisomy 21, Down Syndrome, have increased risk. e. With lymphocytic leukemia- now you can get remission in over 90% of these conditions. Now kids are being cured of it. Ptrognosis is improving, especially Acute Lymphocytic Leukemia f. Cause more deaths in children < 15 yrs of age than all others combined g. > 50% of all childhood neoplasia XXXV. Neuroblastoma [S36] a. Tumors of the adrenal medulla- the adrenal gland has a cortex of a medulla. The adrenal medulla is where the catecholyamines are secreted. b. One way it’s diagnosed is by measuring the catecholamine in urine because they often secrete in urine. c. Common solid tumor of childhood d. Adrenal cortex or elsewhere in sympathetic nervous system e. Urine assay for catecholamines f. Median age at diagnosis = 3 mo g. May evolve into ganglioneuroma h. May spontaneously regress XXXVI. Retinoblastoma [S37] a. Most common intraocular tumor of childhood b. Arises in retina and lining of globe c. Usually diagnosed 16 mo - 2 yrs d. Occasionally bilateral e. Deletion of long arm of chromosome 13 XXXVII.Nephroblastoma (Wilm’s Tumor) [S38] - Congenital tumor of the kidney a. If identified early, you can take out the kidney and do chemotherapy. b. Aniridia - is associated with the iris of the child. c. Most common renal tumor of childhood d. Usually diagnosed 6 mo - 2 yrs e. Treated by nephrectomy and chemotherapy with generally good outcomes f. Associations: i. aniridia ii. deletion of short arm of chromosome 11 g. There is an important optometric connection.

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