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Two pediatric patients with hemiplegic migraine presenting as acute encephalopathy: cases report and a literature review

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NIAID Data Ecosystem2026-05-01 收录
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https://www.ncbi.nlm.nih.gov/sra/SRP448707
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资源简介:
Hemiplegic migraine (HM) is a rare subtype of migraine. The core symptoms of HM are headacheand motor weakness. HM in children may be atypical in the initial stage of the disease, which couldeasily lead to misdiagnosis. We report two cases of atypical hemiplegic migraine that onset as an acute encephalopathy. The atypical clinical presentation of these two patients led to a challenging diagnosis. Both patients were eventually diagnosed with HM by whole-exome sequencing. The result of patient #1 showed a de novo mutation, c.674C>A (p. Pro225His), in exon 5 of the CACNA1A gene. The result of patient #2 showed a missense mutation (c.2143G>A, p. Gly715Arg) in exon 16 of the ATP1A2. Both of them were given prophylactic treatment after the encephalopathy symptoms resolved. When similar clinical cases appear, gene detection is particularly important, which is conducive to early diagnosis and treatment. Early recognition and treatment of the disease can help improve the prognosis.
创建时间:
2023-07-13
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