A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvement.
Neuropediatrics
; 37(5): 308-11, 2006 Oct.
Article
em En
| MEDLINE
| ID: mdl-17236112
ABSTRACT
We report a severe case of Dentatorubro-pallidoluysian atrophy (DRPLA) presenting with microcephaly, developmental delay, severe epilepsy, and progressive mental deterioration with a very early onset of disease. The case is notable for the early detection of white matter changes by brain MRI. Neuroradiological findings from the case were compared to those of previously reported patients with disease onset before 10 years of age.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Convulsões
/
Epilepsias Mioclônicas Progressivas
/
Doenças do Recém-Nascido
/
Microcefalia
Tipo de estudo:
Observational_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Child
/
Humans
/
Male
/
Newborn
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
2006
Tipo de documento:
Article
País de afiliação:
Estados Unidos
País de publicação:
ALEMANHA
/
ALEMANIA
/
DE
/
DEUSTCHLAND
/
GERMANY