[Gitelman syndrome revealed by myoclonus pediatric case report]

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

Nephrocalcinosis in neonates: report of 5 cases

The nephrocalcinosis is a pathologic entity rarely revealed to the neonatal period. The etiologies are dominated by hypercalciuria of prematurity whose origin is mostly iatrogenic. In full-term newborn, it refers primarily to the early revelation tubulopathy [distal tubular acidosis, Bartter syndrome] and primary hyperoxaluria, pathology common in the North African population. The prognosis depends on the extension of calcium deposits, the etiology and therapeutic options. In the pediatric nephrology department of the Charles Nicolle hopital, and during a period of 7 years from 2002 to 2008, we supported for nephrocalcinosis, 5 full-term newborns who fall into 3 boys and 2 girls. The average age of discovery is 19 days with extremes of 15 to 25 days. Consanguinity was present in 4 cases. The circumstances of discovery are: Acute dehydration with underweight in 2 patients. A urinary tract infection in one patient. NeonataI convulsions secondary to hypomagnesaemia. A chance discovery in the exploration of a symptomatology evocative of a gastrosophageal ref lux disease in a patient. Explorations turned up the diagnosis of distal tubular acidosis in 2 patients, a primary hyperoxaluria in 1 patient, idiopathic hypercalciuria in a patient and a family hypomagnesaemia with hypercalciuria and nephrocalcinosis in another patient