Section of Pediatric Neurology, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
Pediatr Neurol. 2012 Sep;47(3):201-4. doi: 10.1016/j.pediatrneurol.2012.05.006.
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.
三个孩子患有家族性偏瘫性偏头痛，表现为右侧无力、言语困难、精神状态改变和步态异常。这些持续的先兆症状伴有左侧减速和大脑功能障碍，脑电图记录证实了这一点。头颅磁共振成像显示皮质水肿仅限于左侧大脑半球。随后的脑电图和影像学研究在 1 至 4 个月后结果正常。然而，认知变化持续存在。基因检测结果各不相同：一个孩子表现出与家族性偏瘫性偏头痛 1 型一致的 CACNA1A 突变，而另一个孩子表现出 ATP1A2 序列改变。第三个孩子没有明显的突变，轻微的头部外伤被认为是家族性偏瘫性偏头痛的诱因。这些发现表明儿童家族性偏瘫性偏头痛的临床表现和遗传异质性存在差异。
