Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family.
Neurol India
;
2003 Sep; 51(3): 401-3
Artigo
em Inglês
| IMSEAR
| ID: sea-120857
ABSTRACT
Cerebrotendinous xanthomatosis (CTX) is exceptionally rare in the Indian population. We present and discuss the clinical, radiological and histopathologic findings in 2 siblings with CTX. Both the patients had juvenile cataract, mental retardation and marked cerebellar ataxia. The Achilles tendon swelling was present in only 1 patient (Case 2). MR imaging showed typical bilateral and symmetrical involvement of the dentate nuclei, inferior olives, brainstem and cerebellar hemispheric white matter. Although the diagnosis of CTX was made in the 3rd decade in both our cases, early diagnosis is possible if neuroimaging is done in the early course of the disease.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Feminino
/
Humanos
/
Masculino
/
Imageamento por Ressonância Magnética
/
Tomografia Computadorizada por Raios X
/
Saúde da Família
/
Xantomatose Cerebrotendinosa
/
Adulto
/
Irmãos
/
Índia
Tipo de estudo:
Estudo de rastreamento
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Neurol India
Ano de publicação:
2003
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS