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Seizure, mental retardation and abnormal cranial CT in a child.

Accepted 9 July 1997 A five-year-old boy presented with generalised tonic-clonic seizures since the age of three months. He was the first of two siblings born of nonconsanguinous marriage. He was born at full term by normal vaginal route and at that time his mother was 32 and father 34 years of age. His motor and mental milestones were delayed. There was no history of meningo-encephalitis or head injury. There was no family history of seizure disorder. The general physical examination revealed prominence of the medial epicanthal folds, hypertelorism, short stature (height = 85 cm), stubby hands, simian crease, clinodactyly, low set ears, thick lips and macroglossia. Neurological and other systemic examinations were unremarkable except for severe mental retardation and generalised hypotonia. A basic work-up involving haemogram, urinalysis, liver function, serum creatinine, muscle enzymes and lipid profile was normal. Serum calcium, phosphorus and alkaline phosphatase were 2.25 mmol/l, 1.1 mmol/l and 78 IU/1, respectively; 24-h urinary calcium was 1.5 mmol/24 h. The electrocardiogram and a 2-D echocardiogram were normal. A nonenhanced cranial computed tomography (CT) scan is shown in the figure.