Cerebrotendinous xanthomatosis: neuroimaging findings in two siblings from an Indian family.
Neurol India
;
2003 Sep; 51(3): 401-3
Article
Dans Anglais
| 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.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
Sujet Principal:
Femelle
/
Humains
/
Mâle
/
Imagerie par résonance magnétique
/
Tomodensitométrie
/
Santé de la famille
/
Xanthomatose cérébrotendineuse
/
Adulte
/
Fratrie
/
Inde
Type d'étude:
Étude de dépistage
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Neurol India
Année:
2003
Type:
Article
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