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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886
EISSN: 0028-3886
Vol. 51, No. 3, 2003, pp. 401-403
Bioline Code: ni03132
Full paper language: English
Document type: Research Article
Document available free of charge

Neurology India, Vol. 51, No. 3, 2003, pp. 401-403

 en Cerebrotendinous xanthomatosis: Neuroimaging findings in two siblings from an Indian family
Gaikwad SB, Garg A, Mishra NK, Gupta V, Srivastava A, Sarkar C


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.

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