[L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly]. / L-2-Hydroxy-Glutarazidurie -- eine seltene Differenzialdiagnose der Makrozephalie.
Klin Padiatr
; 218(2): 72-3, 2006.
Article
em De
| MEDLINE
| ID: mdl-16506106
ABSTRACT
We report on a 9-year-old girl who was referred to our department because of increasing macrocephaly and school problems. The neurological examination disclosed mild cerebellar dysfunction and positive pyramidal tract signs. An MRI of the brain revealed extensive signal alterations of the white matter. Biochemical investigations established the diagnosis of L-2-hydroxyglutaric aciduria which has to be kept in mind as a rare cause of macrocephaly.
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Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Encefalopatias Metabólicas Congênitas
/
Glutaratos
/
Deficiência Intelectual
Idioma:
De
Ano de publicação:
2006
Tipo de documento:
Article