We report a new case of neonatal onset ETF deficiency (GA2) with long survival (present age 4 yrs, 7 mos), good physical growth, hypotonia, psychomotor delay and severe epilepsy, consisting of therapy-resistant infantile spasms. To our knowledge, this is the first report of epilepsy in a case of GA II. We suggest that this case could be a new clinical phenotype of this metabolic disease.
|Translated title of the contribution||Glutaric aciduria type II and epileptic encephalopathy|
|Number of pages||2|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - 1994|
ASJC Scopus subject areas
- Clinical Neurology