[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family]. / Encéphalopathie myoclonique précoce et hyperglycinémie sans cétose dans une même fratrie.

ABSTRACT

BACKGROUND: Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes. CASE REPORT A girl, born from consanguineous parents, died from myoclonic epileptic encephalopathy at the age of 3 months. Screening for metabolic disease was negative, except for increased levels of urine serotonin and 5-hydroxyindol-acetic in cerebrospinal fluid, blood and urine. Two sisters died with non ketotic hyperglycinemia, corpus callosum agenesis and clubfoot. CONCLUSION: Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.