Variable Manifestations of Familial Hemiplegic Migraine Associated With Reversible Cerebral Edema in Children
Variable Manifestations of Familial Hemiplegic Migraine Associated With Reversible Cerebral Edema in Children
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DOI：
10.1016/j.pediatrneurol.2012.05.006
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发表时间：
2012-09-01
影响因子：
3.8
通讯作者：
Sharp, Gregory B.
中科院分区：
文献类型：
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作者：
Asghar, Sheila J.;Milesi-Halle, Alessandra;Sharp, Gregory B.
3例家族性偏瘫性偏头痛患儿表现为右侧无力、言语困难、精神状态改变和步态异常。脑电图显示，这些持续的先兆体征伴有左脑活动迟缓和脑功能障碍。颅磁共振成像显示皮质水肿局限于左脑半球。随访1-4个月脑电图和影像学检查结果正常。然而，认知变化持续存在。基因检测显示出不同的结果：一名儿童表现出与家族性偏瘫型偏头痛相容的CACNA1A突变，而另一名儿童表现出ATP1A2序列改变。第三个孩子没有明显的已知突变，轻微的头部创伤被认为是家族性偏瘫性偏头痛的诱因。这些发现证明了儿童家族性偏瘫偏头痛的可变临床和遗传异质性。(C) 2012爱思唯尔公司版权所有。
Three children with familial hemiplegic migraine presented with right-sided weakness, speech difficulty, altered mental status, and gait abnormalities. These persistent aura signs were accompanied by left-sided slowing and cerebral dysfunction, documented by electroencephalograms. Cranial magnetic resonance imaging revealed cortical edema restricted to the left cerebral hemisphere. Follow-up electroencephalogram and imaging studies produced normal results 1-4 months afterward. However, cognitive changes persisted. Genetic testing demonstrated variable results: one child manifested a CACNA1A mutation compatible with familial hemiplegic migraine type 1, whereas another demonstrated an ATP1A2 sequence alteration. No known mutations were evident in the third child, with minor head trauma thought to precipitate the familial hemiplegic migraine. These findings demonstrate the variable clinical and genetic heterogeneity of childhood familial hemiplegic migraine. (C) 2012 Elsevier Inc. All rights reserved.