TY - JOUR
T1 - Acute striatal necrosis in hemiplegic migraine with de novo CACNA1A mutation
AU - Carreño, Oriel
AU - García-Silva, María Teresa
AU - García-Campos, Ascar
AU - Martínez-De Aragõn, Ana
AU - Cormand, Bru
AU - MacAya, Alfons
PY - 2011/11/1
Y1 - 2011/11/1
N2 - 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. © 2011 American Headache Society.
AB - 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. © 2011 American Headache Society.
KW - CACNA1A
KW - hemiplegic migraine
KW - migraine genetics
KW - striatal necrosis
U2 - 10.1111/j.1526-4610.2011.02014.x
DO - 10.1111/j.1526-4610.2011.02014.x
M3 - Article
VL - 51
SP - 1542
EP - 1546
JO - Headache
JF - Headache
SN - 0017-8748
IS - 10
ER -