Xiang Yu, Li Fei, Song Zhenfeng, Yi Zhi, Yang Chengqing, Xue Jiao, Zhang Ying
Department of Pediatric Neurology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Front Pediatr. 2023 Jul 28;11:1214837. doi: 10.3389/fped.2023.1214837. eCollection 2023.
Hemiplegic migraine (HM) is a rare subtype of migraine. HM in children may be atypical in the initial stage of the disease, which could easily lead to misdiagnosis.
We report two cases of atypical hemiplegic migraine that onset as an acute encephalopathy. And a comprehensive search was performed using PubMed, Web of Science, and Scopus. We selected only papers that reported complete clinical information about the patients with CACNA1A or ATP1A2 gene mutation.
Patient #1 showed a de novo mutation, c.674C>A (p. Pro225His), in exon 5 of the CACNA1A gene. And patient #2 showed a missense mutation (c.2143G>A, p. Gly715Arg) in exon 16 of the ATP1A2. Together with our two cases, a total of 160 patients (73 CACNA1A and 87 ATP1A2) were collected and summarized finally.
Acute encephalopathy is the main manifestation of severe attacks of HM in children, which adds to the difficulty of diagnosis. Physicians should consider HM in the differential diagnosis of patients presenting with somnolence, coma, or convulsion without structural, epileptic, infectious, or inflammatory explanation. 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.
偏瘫性偏头痛（HM）是偏头痛的一种罕见亚型。儿童期的HM在疾病初期可能不典型，容易导致误诊。
我们报告了两例以急性脑病起病的非典型偏瘫性偏头痛病例。并使用PubMed、Web of Science和Scopus进行了全面检索。我们仅选择了报告了有关CACNA1A或ATP1A2基因突变患者完整临床信息的论文。
病例1在CACNA1A基因第5外显子显示一个新发突变，c.674C>A（p.Pro225His）。病例2在ATP1A2基因第16外显子显示一个错义突变（c.2143G>A，p.Gly715Arg）。连同我们的两例病例，最终共收集并总结了160例患者（73例CACNA1A和87例ATP1A2）。
急性脑病是儿童期严重发作性HM的主要表现，增加了诊断难度。医生在对出现嗜睡、昏迷或惊厥且无结构性、癫痫性、感染性或炎症性解释的患者进行鉴别诊断时应考虑HM。当出现类似临床病例时，基因检测尤为重要，有助于早期诊断和治疗。尽早识别和治疗该疾病有助于改善预后。
