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Year : 2003  |  Volume : 51  |  Issue : 3  |  Page : 401--403

Cerebrotendinous xanthomatosis: Neuroimaging findings in two siblings from an Indian family

Departments of Neuroradiology, Neurology and Neuropathology, Neurosciences Center, All India Institute of Medical Sciences, Ansari Nagar, New Delhi - 110029, India

Correspondence Address:
S B Gaikwad
Department of Neuroradiology, A.I.I.M.S, New Delhi - 110029
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Source of Support: None, Conflict of Interest: None

PMID: 14652454

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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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Online since 20th March '04
Published by Wolters Kluwer - Medknow