[Early myoclonic epileptic encephalopathy and non-ketotic hyperglycemia in the same family]. / Encéphalopathie myoclonique précoce et hyperglycinémie sans cétose dans une même fratrie.
Arch Pediatr
; 5(4): 397-9, 1998 Apr.
Article
em Fr
| MEDLINE
| ID: mdl-9759159
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Epilepsias Mioclônicas
/
Consanguinidade
/
Hiperglicemia
Limite:
Female
/
Humans
/
Male
/
Newborn
Idioma:
Fr
Ano de publicação:
1998
Tipo de documento:
Article