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Please use this identifier to cite or link to this item: http://hdl.handle.net/1807/21201


Title: Cerebrotendinous xanthomatosis: Neuroimaging findings in two siblings from an Indian family
Authors: Gaikwad, S. B.
Garg, A.
Mishra, N. K.
Gupta, V.
Srivastava, A.
Sarkar, C.
Issue Date: 31-Dec-2003
Publisher: Medknow Publications on behalf of the Neurological Society of India
Citation: Neurology India (ISSN: 0028-3886) Vol 51 Num 3
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.
URI: http://hdl.handle.net/1807/21201
Other Identifiers: http://www.bioline.org.br/abstract?id=ni03132
Rights: Copyright 2003 Neurology India. Online full text also at http://www.neurologyindia.com
Appears in Collections:Bioline International Legacy Collection

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