Zhuo X W, Ren S S, Gong S, Zhang W H, Li J W, Zhang Y J, Ding C H
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
Department of Neurology, Baoding Children's Hospital, Baoding 071051, China.
Zhonghua Er Ke Za Zhi. 2021 Apr 2;59(4):316-321. doi: 10.3760/cma.j.cn112140-20201015-00946.
To analyze the clinical and genetic characteristics, diagnosis and treatment of hemiplegic migraine (HM) manifested as acute encephalopathy in children, so as to improve the understanding of this disease. The clinical data of 5 children diagnosed with HM characterized by acute encephalopathy who were admitted to Beijing Children's Hospital affiliated to Capital Medical University from August 2018 to June 2020 were retrospectively analyzed. Among the 5 cases, 3 were males and 2 females with an age of 9.7 (3.9-12.7) years. The age of disease onset was 7.0(2.1-12.7) years. The peak symptoms of 5 children showed encephalopathy such as drowsiness and coma, as well as other clinical manifestations including headache, visual abnormality, hemiplegia, aphasia, convulsions, and fever, etc. The time to reach the peak was on the 2nd-6th day of the course of the disease. Before the onset of the disease 2 cases were found to have mild brain trauma and 2 cases had similar attacks in the past. Brain magnetic resonance imaging (MRI) showed hemispheric or partial cerebral cortex swelling and restricted diffusion of subcortical white matter in all cases, and cerebellar atrophy in 3 cases. All children received symptomatic treatment, and 2 of them were also treated with low-dose corticosteroids in the meantime. Finally all cases recovered clinically from the attack, but one had atrophic changes left in the affected area on brain MRI. Whole exon sequencing revealed variations of CACNA1A gene in all cases, among which 4 were de novo mutations and 1 case inherited from the mother who had migraine without aura. After the diagnosis, the 5 children were treated with long-term flunarizine and followed up for 22(7-29) months by telephone or in the outpatient clinic. Before the last follow-up, none of them showed weakness or encephalopathy, but one still had intermittent headaches and occasional transient right limb numbness. Hemipleg is often accompanied by impaired consciousness in addition to headache, hemiplegia, aphasia, visual abnormality, etc. Most patients recover completely after a short period, while a few recover slowly and may suffer sequelae such as brain atrophy and cognitive impairment and even death. CACNA1A gene variation is the most common genetic variation. Flunarizine could prevent recurrence of severe attack.
分析以急性脑病为表现的儿童偏瘫型偏头痛（HM）的临床及遗传学特征、诊断与治疗，以提高对该病的认识。回顾性分析2018年8月至2020年6月首都医科大学附属北京儿童医院收治的5例以急性脑病为特征的HM患儿的临床资料。5例中，男3例，女2例，年龄9.7（3.9 - 12.7）岁。发病年龄7.0（2.1 - 12.7）岁。5例患儿的高峰症状表现为嗜睡、昏迷等脑病症状，以及头痛、视觉异常、偏瘫、失语、抽搐、发热等其他临床表现。达到高峰时间为病程第2 - 6天。发病前2例有轻度脑外伤史，2例既往有类似发作史。头颅磁共振成像（MRI）显示所有病例均有半球或部分大脑皮质肿胀及皮质下白质扩散受限，3例有小脑萎缩。所有患儿均接受了对症治疗，其中2例同时给予小剂量糖皮质激素治疗。最终所有病例临床发作均恢复，但1例头颅MRI显示患侧遗留萎缩性改变。全外显子测序显示所有病例均有CACNA1A基因变异，其中4例为新发突变，1例为从无先兆偏头痛母亲遗传而来。确诊后，5例患儿接受了长期氟桂利嗪治疗，并通过电话或门诊随访22（7 - 29）个月。末次随访前，均无肢体无力或脑病表现，但1例仍有间歇性头痛及偶尔短暂性右下肢麻木。偏瘫型偏头痛除头痛、偏瘫、失语、视觉异常等外常伴有意识障碍。多数患者短期内完全恢复，少数恢复缓慢，可遗留脑萎缩、认知障碍等后遗症甚至死亡。CACNA1A基因变异是最常见的遗传变异。氟桂利嗪可预防严重发作复发。
