Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings.
Brain Dev
; 22(3): 188-92, 2000 May.
Article
em En
| MEDLINE
| ID: mdl-10814903
ABSTRACT
We describe two sisters affected by pontocerebellar hypoplasia type 2 associated with microcephaly, hypertonia, severe choreiform movements, an almost complete lack of psychomotor development, and generalized tonic-clonic seizures. Clinical and neuroradiological findings ruled out other conditions associated with pontocerebellar hypoplasia, i.e. pontocerebellar hypoplasia type 1, carbohydrate-deficient glycoprotein syndrome, and olivopontocerebellar hypoplasia/atrophy.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ponte
/
Cerebelo
/
Doenças Neurodegenerativas
Limite:
Child, preschool
/
Female
/
Humans
/
Infant
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article