Congenital hydrocephalus in an Egyptian baby with trisomy 18: a case report

<p>Abstract</p> <p>Introduction</p> <p>Trisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). A variety of anomalies of the central nervous system are observed in cases of trisomy 18. The association between trisomy 18 and congenital hydrocephalus is very rare.</p> <p>Case presentation</p> <p>A 4-month-old male Egyptian baby boy was referred to Assiut University hospital for evaluation of his large-sized head. The initial clinical examination revealed facial dysmorphism including a prominent wide forehead, wide anterior fontanel, bushy eyebrows, synophrosis, small palpebral fissures, ocular hypertelorism, high arched palate, depressed nasal bridge, low-set ears, micrognathia, bilateral clenched hands with over lapping fingers, rocker-bottom feet and penile hypospadius. A computed tomography scan of the patient's head showed a dilatation of all the ventricular systems of the brain that suggested hydrocephalus. A chromosome analysis of his peripheral blood confirmed a trisomy of chromosome 18 (47, XX+18). The hydrocephalus was treated with a ventriculoperitoneal shunt because of the abnormal increase in his head circumference. He was discharged home on nasogastric feeds at the age of 5 months. Despite the advice of the medical team, his parents did not bring him for further follow up. He died at the age of 7 months due to a sudden cardiorespiratory arrest at home.</p> <p>Conclusion</p> <p>Microcephaly is not mandatory for the diagnosis of trisomy 18 syndrome because some cases of trisomy 18 can be associated with other anomalies of the central nervous system, including hydrocephalus. There is no proven explanation for this association, and the management of hydrocephalus in such a situation is not different from the usual course of management.</p

Vitamin D level in preschool children with recurrent wheezy chest, and its relation to the severity of the wheezing episodes

Background: Recurrent wheezy chest is a common complaint in pediatric practice. Vitamin D is a potent immunomodulator in allergic diseases as wheezy chest and asthma. The prevalence of vitamin D deficiency has been increasing in Egypt leading to significant morbidities.Objectives: This study aimed to assess serum 25 hydroxy (OH) Vitamin D level in preschool children with recurrent wheezy chest, and to assess its relation to the recurrence, severity, and level of control of the wheezing episodes.Methods: The study included 100 preschool children (aged 2 to 5 years), of both sexes, recruited from the Emergency department, Allergy and Pulmonology units at Assiut University Children Hospital, Egypt. They should have at least 3 documented episodes of wheeze, cough, and difficulty breathing in the last year with clinical improvement on inhaled short-acting beta 2 agonists. Patients were subjected to questionnaire-based history, clinical examination, and laboratory investigations (complete blood count (CBC) with the absolute eosinophil count, serum total IgE level, and serum 25 hydroxy (OH) Vitamin D level). Pediatric Respiratory Assessment Measure (PRAM score) for assessment of the severity of the wheezing episodes and Global Initiative for Asthma (GINA) based level of asthma control for children 5 years and younger were applied. The patients were grouped according to PRAM score to mild, moderate and severe episodes and according to vitamin D level as sufficient and below-sufficient groups (including deficient and insufficient patients).Results: 25(OH) Vitamin D level was below-sufficient in 53% of the studied patients (deficient in 32% and insufficient in 21%). PRAM score was significantly lower in patients with sufficient 25(OH) Vitamin D level versus those with below-sufficient level (p &lt; 0.025). There was a significant negative correlation between PRAM score and 25 (OH) Vitamin D level (r = -0.334, p = 0.001).Conclusion: There is an inverse relationship between 25(OH)vitamin D level and parameters of asthma severity, as well as with the level of asthma control in preschool children with recurrent wheezy chest.Keywords: Vitamin D, recurrent wheezy chest, preschool childre

Hypoparathyroidism in an Egyptian child with Hutchinson-Gilford progeria syndrome: a case report

<p>Abstract</p> <p>Introduction</p> <p>Hutchinson-Gilford progeria syndrome is a rare genetic disorder. It is reported to be present in one in eight million and is characterized by severe growth failure, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, early atherosclerosis and facial features that resemble those of an aged person. Apart from diabetes mellitus, there are no reported abnormalities of thyroid, parathyroid, pituitary or adrenal function. Here, we report the case of a 10-year-old Egyptian child with Hutchinson-Gilford progeria syndrome and hypoparathyroidism.</p> <p>Case presentation</p> <p>A 10-year-old Egyptian boy was referred to our institution for an evaluation of recurrent attacks of muscle cramps, paresthesia of his fingertips and perioral numbness of two months duration. On examination, we found dilated veins present over his scalp with alopecia and frontal bossing, a beaked nose, thin lips, protruding ears, a high pitched voice with sparse hair over his eyebrows and eyelashes and micrognathia but normal dentition. His eyes appeared prominent and our patient appeared to have poor sexual development. A provisional diagnosis of progeria was made, which was confirmed by molecular genetics study. Chvostek's and Trousseau's signs were positive. He had low total calcium (5.4 mg/dL), low ionized calcium (2.3 mg/dL), raised serum phosphate (7.2 mg/dL), raised alkaline phosphatase (118 U/L) and low intact parathyroid hormone (1.2 pg/mL) levels. He was started on oral calcium salt and vitamin D; his symptoms improved with the treatment and his serum calcium, urinary calcium and alkaline phosphates level were monitored every three months to ensure adequacy of therapy and to avoid hypercalcemia.</p> <p>Conclusion</p> <p>Routine checking of serum calcium, phosphorus and parathyroid hormone will help in the early detection of hypoparathyrodism among children with progeria.</p

Evaluation of Some Cardiac Functions among Children with Vitamin D Deficiency Rickets

Vitamin D deficiency rickets (VDDR) is commonly recognised disease in Egypt. The most striking&nbsp; biochemical fi nding in this illness is hypocalcaemia which may affect ventricular contraction. This study was a prospective hospital based study aiming to evaluate some cardiac functions among children with VDDR by Echocardiography.Patients and Methods: Patients: The included 100 patients (Group 1) with VDDR in addition to control group (Group 2) which included 50 healthy children. Methods: all cases were subjected to a thorough history, full clinical examinations and investigations which include: serum calcium, phosphorus, alkaline phosphatase, 25(OH) vitamin D, parthhormone, chest x ray, electrocardiogram and echocardiography to measure [left ventricular functions systolic function which include( ejection fraction% (EF%), fraction shortening% (FS%) left ventricular end diastolic diameter(LVEDD) and left ventricular end systolic diameter (LVESD)] .Results: EF%&amp;FS% were signifi cantly lower while LVEDD &amp; LVESD were signifi cantly higher among studied VDDR cases (Group 1) when compared with control (Group 2). These echocardiographic parameters were improved with treatment with vitamin D and calcium. Conclusions: children with VDDR have a signifi cant impairment in left ventricle systolic functions which improved with appropriate treatment.</p

Prune belly syndrome in an Egyptian infant with Down syndrome: A case report

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