Early onset leukodystrophy with distinct facial features in 2 siblings.
Neuropediatrics
; 20(3): 154-7, 1989 Aug.
Article
em En
| MEDLINE
| ID: mdl-2779744
ABSTRACT
Two siblings with marked subcutaneous tissue atrophy, delayed dentition and a degenerative neurological condition characterised by nystagmus, ataxia and spasticity are described. Myelin was almost totally absent on the magnetic resonance image brain scan performed on one sibling. There was no history of photosensitivity and ultraviolet irradiation of cultured fibroblasts did not inhibit RNA synthesis. We believe that these children have a previously undescribed syndrome, which, although clinically similar to Cockayne syndrome, is readily distinguished from it.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Ataxia
/
Encefalopatias
/
Doenças do Sistema Nervoso
Limite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neuropediatrics
Ano de publicação:
1989
Tipo de documento:
Article
País de afiliação:
Reino Unido