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Neurology India
Medknow Publications on behalf of the Neurological Society of India
ISSN: 0028-3886 EISSN: 0028-3886
Vol. 52, No. 1, 2004, pp. 99-101
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Bioline Code: ni04025
Full paper language: English
Document type: Research Article
Document available free of charge
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Neurology India, Vol. 52, No. 1, 2004, pp. 99-101
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Case Report - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL): A case report with review of literature
Gurumukhani JK, Ursekar M, Singhal BS
Abstract
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is an inherited arterial disease, commonly overlooked or misdiagnosed. We report a case of CADASIL in a 51 years old woman who presented with progressive subcortical dementia, recurrent ischemic events and seizures in the absence of known vascular risk factors of five years' duration. Her mother had a history of similar illness. Magnetic resonance imaging (MRI) of brain revealed subcortical and deep white matter hyperintense lesions within the cerebral white matter on T2-weighted images. DNA mutation of Notch 3 gene confirmed the diagnosis of CADASIL.
Keywords
Autosomal dominant arteriopathy, Subcortical dementia, Notch 3 gene.
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