[Gitelman syndrome revealed by myoclonus pediatric case report]

ABSTRACT

Gitelman's syndrome is a salt-losing tubulopathy characterized by hypokalemic alkalosis with hypomagnesemia and hypocalciuria. Patients are often asymptomatic, except for short periods of weakness, tetany or abdominal pain. Myoclonus are rarely reported and misleading with juvenile myoclonic epilepsy. We report a case of 10-year-old girl who had frequent myoclonia occur early in the morning. The brain magnetic resonance image was normal. The electroencephalogram showed an epileptiform discharges. The diagnosis of juvenile myoclonic epilepsy was chosen and patient was treated by valproate. Six month later, she was showed continuous nonconvulsive status epilepticus activity, which could not be suppressed with intravenous diazepam. The clinical and laboratory findings were in accordance with Gitelman syndrome. He has been followed up for 6 months and has suffered no myoclonia under magnesium, potassium and thiazidic