Acute Striatal Necrosis in Hemiplegic Migraine With de Novo CACNA1A Mutation

• Published in: Headache Vol. 51; no. 10; pp. 1542 - 1546
• Main Authors: Carreño, Oriel, García-Silva, María Teresa, García-Campos, Óscar, Martínez-de Aragón, Ana, Cormand, Bru, Macaya, Alfons
• Format: Journal Article
• Language: English
• Published: Malden, USA Blackwell Publishing Inc 01-11-2011; Wiley-Blackwell; Wiley Subscription Services, Inc
• Subjects: Acute Disease; Age; Ataxia; Atrophy; Biological and medical sciences; CACNA1A; CACNA1A protein; Calcium Channels - genetics; Cardiovascular system; Child; Corpus Striatum - pathology; Cytotoxicity; Edema; Female; Headache; Hemiplegia - diagnosis; Hemiplegia - genetics; hemiplegic migraine; Humans; Magnetic resonance imaging; Medical sciences; Migraine; Migraine Disorders - diagnosis; Migraine Disorders - genetics; migraine genetics; Mutation; Mutation - genetics; Necrosis; Necrosis - diagnosis; Necrosis - genetics; Neostriatum; Neurology; Pedigree; Pharmacology. Drug treatments; striatal necrosis; Vascular diseases and vascular malformations of the nervous system; Vasodilator agents. Cerebral vasodilators; Headache; Nervous system diseases; Motor system disorder; Migraine; Cardiovascular disease; CACNA1A; Cerebral disorder; Necrosis; Vascular disease; Pain; striatal necrosis; Central nervous system disease; Hemiplegia; hemiplegic migraine; Mutation; Neurological disorder; Cerebrovascular disease; migraine genetics
• ISSN: 0017-8748; 1526-4610
• DOI: 10.1111/j.1526-4610.2011.02014.x

We report the case of a 9‐year‐old girl with early‐onset developmental delay, chronic ataxia and prolonged hemiplegic migraine episodes bringing about progressive deterioration. Two days into one episode, diffusion‐weighted magnetic resonance imaging disclosed unilateral striatal abnormal signal consistent with cytotoxic edema, which evolved into atrophy on follow‐up scans. Mutational screen of CACNA1A gene identified a de novo p.Tyr1387Cys mutation.