以发作性意识障碍为主要临床表型的偏瘫型偏头痛(附1例报告及文献复习)

Hemiplegic Migraine Presenting with Recurrent Episodes of Impaired Consciousness:A Case Report and Literature Review

目的探讨ATP1A2基因突变导致的以发作性意识障碍为主要表型的偏瘫型偏头痛临床特征。方法分析1例以发作性意识障碍为主要表型的偏瘫型偏头痛患儿的临床资料,并结合相关文献复习进行讨论。结果患儿男性,6月龄起病,发作性疾病直至9岁5月龄再次入院。主要临床表现为发作性意识障碍、癫癎、左侧偏瘫,伴精神运动发育迟滞。头颅MRI检查和遗传代谢病筛查等未见异常。基因检测显示患儿ATP1A2基因错义突变(c.2345C>G,p.P782R),为新生突变,查阅既往文献及数据库未见该位点的相关性报道,结合患儿表型判断为致病基因。结论偏瘫型偏头痛患者除典型的偏头痛外,还可以反复出现意识障碍、癫癎和偏瘫等突出症状,需引起临床重视。本次基因突变发现扩充了ATP1A2基因突变导致的偏瘫型偏头痛的基因突变谱。

Aim To investigate the case of hemiplegic migraine with impaired consciousness caused by ATP1A2 gene mutation.Methods The clinical features of a case of hemiplegic migraine with recurrent episodes of impaired consciousness was analyzed,and the relevant literature was reviewed.Results The male patient developed recurrent episodes at the age of 6 months and was readmitted at the age of 9 and 5 months.The main clinical manifestations were impaired consciousness,seizures and left hemiplegia,accompanied by psychomotor retardation.No abnormality was found in cranial MRI and metabolic disease examination.A novel missense mutation of ATP1A2(c.2345C>G,p.P782R)was identified by whole exome sequencing.No related reports were found in the previous literature and database.Combined with the phenotype of the child,the missense mutation was presumed to be pathogenic.Conclusion In addition to typical migraine,hemiplegic migraine can also be characterized by recurrent disturbance of consciousness,epilepsy and hemiplegia,which should be paid attention by clinicians.This discovery expands the mutation spectrum of ATP1A2 gene.