[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family].
BACKGROUND
Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes.


METHODS
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.


CONCLUSIONS
Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.
Service de Médecine Néonatale, Centre Hospitalier du Havre, France.
H
H
Bruel
J
J
Boulloche
J P
JP
Chabrolle
V
V
Layet
J
J
Poinsot
D003241:Consanguinity; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D006943:Hyperglycemia / Q000151:congenital / Q000235:genetics* / Q000503:physiopathology; D007231:Infant, Newborn; D008297:Male
Encéphalopathie myoclonique précoce et hyperglycinémie sans cétose dans une même fratrie.