Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family.
Neurol India
;
2003 Sep; 51(3): 401-3
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Femenino
/
Humanos
/
Masculino
/
Imagen por Resonancia Magnética
/
Tomografía Computarizada por Rayos X
/
Salud de la Familia
/
Xantomatosis Cerebrotendinosa
/
Adulto
/
Hermanos
/
India
Tipo de estudio:
Estudio de tamizaje
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Neurol India
Año:
2003
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS