2022Journal of Medical Sciences and HealthOpen access

A Rare Cause of Headache in A Middle-Aged Patient

Krishnan Balagopal, Jeyaseelan Nadarajah, Maria Eldho

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Abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disease that commonly presents with migraine with aura, ischemic episodes, cognitive decline, and psychiatric manifestations. It is caused by mutations in the NOTCH3 gene with autosomal dominant inheritance. We report a 45-year-old male who presented with recurrent episodes of migraine over the last fifteen years and a history of migraine in his family members. A review of his imaging suggested CADASIL as a possible diagnosis. He underwent genetic testing which showed a positive NOTCH3 mutation. This report aims to highlight the importance of considering CADASIL as a cause of familial migraine. Keywords: CADASIL, Migraine, Stroke

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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disease that commonly presents with migraine with aura, ischemic episodes, cognitive decline, and psychiatric manifestations. It is caused by mutations in the NOTCH3 gene with autosomal dominant inheritance. We report a 45-year-old male who presented with recurrent episodes of migraine over the last fifteen years and a history of migraine in his family members. A review of his imaging suggested CADASIL as a possible diagnosis. He underwent genetic testing which showed a positive NOTCH3 mutation. This report aims to highlight the importance of considering CADASIL as a cause of familial migraine. Keywords: CADASIL, Migraine, Stroke

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Available abstract

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disease that commonly presents with migraine with aura, ischemic episodes, cognitive decline, and psychiatric manifestations. It is caused by mutations in the NOTCH3 gene with autosomal dominant inheritance. We report a 45-year-old male who presented with recurrent episodes of migraine over the last fifteen years and a history of migraine in his family members. A review of his imaging suggested CADASIL as a possible diagnosis. He underwent genetic testing which showed a positive NOTCH3 mutation. This report aims to highlight the importance of considering CADASIL as a cause of familial migraine. Keywords: CADASIL, Migraine, Stroke

Key concepts: CADASIL, Migraine, Leukoencephalopathy, Migraine with aura, Familial hemiplegic migraine, Medicine, Aura, Stroke (engine)

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