A case report about cadasil: mutation in the notch 3 receptor
International Journal of Development Research
A case report about cadasil: mutation in the notch 3 receptor
Received 16th July, 2017; Received in revised form 25th August, 2017; Accepted 07th September, 2017; Published online 10th October, 2017
Copyright ©2017, Dr. Sunil Bhatt. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a rare autosomal dominant genetic disease characterized with recurrent stroke, migrainous headache, cognitive deficits, and psychiatric symptoms associated with mutations in the NOTCH 3 gene on chromosome 19. Here, we report a case of CADASIL who presented with left sided weakness, recurrent strokes and the diagnosis was established by the findings of head magnetic resonance images revealing characteristic white matter lesions and a mutation in the NOTCH 3 gene.
