Abstract
A seven-year-old girl with ornithine transcarbamylase deficiency showed reccurent episodes of minorepileptic-status (MES) like symptoms. She showed normal psychomotor development. At five years of age, she developed frequent vomiting and ketonuria. From six years of age, she developed MES-like symptoms such as conciousness and sleep disturbance, an ataxic gait and myoclonic movements of the limbs almost monthly. She was seen at a hospital, where a diagnosis of epilepsy was made and she was treated with carbamazepine. Because her episodes were poorly controlled, sodium valproate was additionally administered from September 1985. At that time, her blood ammonium level was within the normal range. In November 1985, she developed a similar episode which was more prolonged compared to before, and hyperammonemia was recognized. On admission to our hospital, her blood ammonium level was abnormally high (338μg/dl). The data of plasma amino acid analysis and the urine orotic acid level suggested that she had ornithine transcarbamylase deficiency. Enzyme studies on a liver biopsy specimen revealed a partial ornithine transcarbamylase deficiency (30%). The electroencephalographic patterns changed with blood ammonium levels. Our case suggested that metabolic disorders should be considered as one of the causes of MES-like symptoms.
