Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family

Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes. 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 le...

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Bibliographic Details
Published in:Archives de pédiatrie : organe officiel de la Société française de pédiatrie 1998-04, Vol.5 (4), p.397-399
Main Authors: Bruel, H, Boulloche, J, Chabrolle, J P, Layet, V, Poinsot, J
Format: Article
Language:fre
Subjects:
Consanguinity
Electroencephalography
Epilepsies, Myoclonic - congenital
Epilepsies, Myoclonic - genetics
Epilepsies, Myoclonic - physiopathology
Female
Humans
Hyperglycemia - congenital
Hyperglycemia - genetics
Hyperglycemia - physiopathology
Infant, Newborn
Male
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Summary:Neonatal myoclonic encephalopathy is of lesional or metabolic origin; non ketotic hyperglycinemia is one of its causes. 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. Familial occurrence of non ketotic hyperglycinemia and early myoclonic epileptic encephalopathy is uncommon.
ISSN:0929-693X