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

Journal of Medical Case Reports
Kotb Abbass MetwalleyAlaa A Abd-Elsayed

Abstract

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. 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...Continue Reading

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