Variable course of Canavan disease in two boys with early infantile aspartoacylase deficiency.
Dev Med Child Neurol
; 33(9): 824-8, 1991 Sep.
Article
en En
| MEDLINE
| ID: mdl-1936635
ABSTRACT
This is a report of two patients with Canavan disease from the Federal Republic of Germany. One is a severely retarded, macrocephalic boy, who had the characteristic laboratory findings of Canavan disease and progressive leucodystrophy on neuro-imaging. The other is retarded, with signs of a cerebral movement disorder showing no deterioration during the first 15 months. The significance of aspartoacylase deficiency in Canavan disease for differential diagnosis, genetic counselling and prenatal diagnosis of leucodystrophy is discussed.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Esclerosis Cerebral Difusa de Schilder
/
Amidohidrolasas
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Child, preschool
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Dev Med Child Neurol
Año:
1991
Tipo del documento:
Article