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Down Syndrome and Di George Syndrome: a Case Report

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Down Syndrome and Di George Syndrome: a Case Report Bulletin of the Transilvania University of Bra şov Series VI: Medical Sciences • Vol. 6 (55) No. 2 - 2013 DOWN SYNDROME AND DI GEORGE SYNDROME: A CASE REPORT O. FALUP-PECURARIU 1,2 L. MIRIC Ă2 E. M. GEORGESCU 2 V. MONESCU 3 C. FALUP-PECURARIU 1 Abstract: We present a case report of a newborn girl that was admitted at the University Childrens Hospital Bra şov Romania, for dehydration and cyanosis. She also presented with the characteristic features of Down syndrome associated to symptomes of Di George syndrome. She presented with persistent hypocalcemia, IgA hypogamaglobulinemia and tymus agenesis that was seen on the radiographic image. Down syndrome is associated with multiple malformations but was rarely associated with Di George syndrome in the literature. We also review the main issues related with these diagnoses. Key words: Down syndrome, Di George syndrome, diagnoses. 1. Introduction Hospital Bra şov, for failure to thrive, marked cyanosis, difficult breathing. Down syndrome is the most common She was born after a normal gestation of genetic disease having a very distinct 39 weeks, birth weight of 2850 grammes, pattern of phenotypic presentation, making APGAR 9, breastfed for 2 weeks after that the diagnosis evident during the newborn she received milk formula. She received period [2]. It is also a common cause of the BCG and hepatitis B vaccine at the intelectual disability at children. There are Maternity being discharged from there several case reports regarding the with the diagnosis of Down syndrome and occurence of Down syndrome together cardiac malformation. with other genetic malformations but few The patient was admitted for the above with Di George syndrome. mentioned symptomes and presented at the clinical exam mediocre state, fever 38.5 2. Patient and method degrees Celsius, diffuse cyanosis, signs of dehydration, a systolic murmur that was We present a newborn girl admitted at audible on the whole cardiac area, oxigen the age of 23 days at the Newborn saturation of 75-80% without oxigen that Department of the University Children’s under oxigen raise to 85-90%, persistent crepitant rales, a normal abdomen, normal 1 Faculty of Medicine, „Transilvania” University, Bra şov, România. 2 University Children’s Hospital, Bra şov, România. 3 Faculty of Mathematics and Informathics, „Transilvania” University, Bra şov, România. 46 Bulletin of the Transilvania University of Bra şov • Series VI • Vol. 6 (55) No. 2 - 2013 stools, marked hypotonia, dysmorphic Cultures were taken and revealed nasal characteristic features corresponding to and pharyhgeal swab Staphylococcus aures Down syndrome. The main dysmorphic MRSA, conjunctival swab Haemophilus features were brachycephaly with flat influenzae, urine culture positive for occiput, epicanthal folds and upslanting Klebsiella ESBL. Blood culture was palpebral fissures, low nasal bridge, negative. The radiography showed alveolar downturned mouth with protruding tongue, pneumonia. low-set ears, broad neck, and small hands Echocardiography showed a complete with transverse crease. atrio-ventricular channel at admittance but The lab exams at admittance showed the was repeated during hospitalization period. following: leucocytes 16600/mm 3 with a The diagnosis at that moment was: predominance of neutrophils 85%, 1. Alveolar pneumonia hemoglobin level 16.2g/dl, hematocrit 2. Atrioventricular channel level 46.9%, trombocytes 279000/mm 3, 3. Down syndrome CRP=2.04 mg/dl, Na/K=132/5.8 mmol/l, 4. Prerenal insufficiency due to Ca=8.50mg/dl, ferrum level of 226 µg, urea dehydration level of 57.8mg/dl, creatinine level of 1.34 5. Urinary tract infection with Klebsiella mg/dl, LDH 1157 U/l, ESBL. GOT/GPT=52/69U/l. Treatment was started with feeding tube Immunoglobulin A (IgA) remained with high calory formula (Infasource persistently low at a level of 0.39g/l while courtesy of Nestle), perfusion, albumin, immunoglobulin G (IgG) raised from 6.30 ceftriaxon, aerosols and oxygen, vitamins, g/l to normal level during the calcium supplementation. hospitalization period. Table 1 Fig. 1. Fig. 2. O. FALUP-PECURARIU et al .: „Down ” Syndrome and “DiGeorge” Syndrome… 47 Under treatment the evolution was (Infasource courtesy of Nestle) adapted for difficult with persistence of low degree toddlers suffering of failure to thrive. fever so second radiography was Under this treatment the evolution was performed and revealed the complete favorable and she was discharged at resorbtion of one of the opacities but one parents request continuing to come at still persisted with a mild cardiomegaly. At regular check-ups. this radiography it was clearly seen the absence of the thymus. This correlated 3. Discussion very well with the hypocalcemia and hypogammaglobulinemia (IgA) all three Di George syndrome occures in a main features for Di George syndrome. number of 1:4000 births and we assist at an Second echocardiography established the increasing number of this syndrome due to diagnosis of large atrial septal defect, the fact that parents affected by the disease ventricular septal defect, mild pulmonary bear their own children [12]. Down hypertension. sydrome on the other hand remains the The transfontanelar and abdominal most common genetic disorder despite the ultrasound were normal. prenatal diagnosing or the termination of The final diagnosis was: pregnancy. The incidence of Down 1. Alveolar pneumonia syndrome remains at 1:1000 births in the 2. Complex cardiac disease (atrial and whole world [4], [17]. septal defect, mild pulmonary Most of the Di George syndrome cases hypertension) are sporadic but around 10% of the 3. Di George syndrome (thymic deletions are inherited ones [20]. Usually agenesis, hypocalcemia and Di George syndrome is considered to be hypogamaglobulinemia) the result of an abnormal embryologic 4. Down syndrome development of the third and fourth 5. First degree malnutrition. pharyngeal arch resulting in congenital Treatment continued with partial tube defects which mainly affect the thymus, feeding, ceftriaxon and vancomycin for a parathyroid and to varying degrees the period of 14 days, vitamin A and D, heart [1], [15]. Furosemid 5mg/kg/day, ACE inhibitors At half of the patients we may found a 1mg/kg/day, intermitent oxigen hemizygous deletion of 22q11.2 while in supplementation. She received complex other cases the diagnoses is made on feeding with special milk formula clinical and lab examination [11]. Aproximately 90% of the patients 48 Bulletin of the Transilvania University of Bra şov • Series VI • Vol. 6 (55) No. 2 - 2013 suffering of Di George have a common cardiac, hematologic, psychiatric, deletion region of 3 Mb which contains neurologic and audiologic problems approximatly 40 genes and around 10% of compared with the normal population [6], the patients present with a smaller one of [19]. around 30 genes that is 1.5 Mb. [3]. Studies report a higher number of heart Di George syndrome is mainly malformations associated to Down associated with T-lymphocyte syndrome alone rather than associated to immundeficiency. However a study of other genetic syndrome [16]. Also it was Patel et al. found that 6% of the children shown that children with Down syndrome having Di George syndrome suffered from are at higher risk for hospitalization since hypogammaglobulinemia [18]. The early age due to respiratory diseases and prevalence of Down syndrome increased also failure to thrive with a longer hospital during 1979-2003 in ten american regions stay [9]. This was the case for our girl, she by 31.1% [18]. was admitted at an early age, 23 days and The higher prevalence of Down her hospitalization period exceeded 40 syndrome with increasing mother’s age is days. not really fully understood. There are Survival for the first year at children several hypotheses trying all to explain the suffering of Down syndrome has improved occurence of the syndrome. The most used dramatically in last years from under 50% hypothesis for explaining this is that the in the 1942-1952 to over 90% in the ovum of the mother is also ageing [5]. nineties [14]. The mean age for death due Another hypothesis is the one that states to different complications in Down that hormonal imbalance causes a less patients increased in the later years to 50 development of microvasculature which years of age [22]. are needed around thematuring follicules. However, there are very few reports This will decrease the oxygen and also the regarding the occurence of Down intracellular pH of the oocyte. There are syndrome together with Di George two important consequences of this fact, syndrome mainly the ones that are one is a smaller spindle and the other one published point out the incidence of is the displacement and disjunction of the cardiovascular disorders and their surgical chromosome [7]. The last but not least one outcome. The spectrum of cardiac is more extended and states that hormonal malformation is also very vast for Di imbalance may suppress the maturation of George as well as for Down syndrome the oocyte during the follicular phase [21]. having as a result the disjunction of the Most of the studies have been interested chromosome. Seasonal reproduction mainly in the survival pattern of the pattern may be seen in humans and this chromosomial malformations of children. may also explain the seasonal reproduction However, while Down syndrome by itself errors [10]. There are several studies was not a risk factor for children having describing seasonal variation in sperm and conotruncal heart problems, the 22q11.2 ovulation production, in early pregnancy syndrome appeared to influence the results termination or spontaneous abortion [8], of surgical cure at children this particular [24]. Other studies have shown the high ones having a higher mortality rate [23]. incidence of endocrinologic mainly thyroid At our patient we present the association dysfunction for children with Down of the two syndromes complicated the syndrome [13]. Children with Down have evolution of the newborn due to alveolar an increased risk for endocrinologic, pneumonia having a prolonged O.
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