Pavlidis Elena, Uldall Peter, Gøbel Madsen Camilla, Nikanorova Marina, Fabricius Martin, Høgenhaven Hans, Pisani Francesco, Møller Rikke S, Gardella Elena, Rubboli Guido
Danish Epilepsy Centre - Epilepsihospitalet Filadelfia, Dianalund, Child Neuropsychiatry Unit, Department of Neuroscience, University of Parma, Parma.
Danish Epilepsy Centre - Epilepsihospitalet Filadelfia, Dianalund, Department of Paediatrics, University Hospital Rigshospitalet, Copenhagen.
Epileptic Disord. 2017 Jun 1;19(2):226-230. doi: 10.1684/epd.2017.0913.
We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit. MRI showed bilateral mesial temporal sclerosis and a left-sided ischaemic lesion. Interictal EEG showed bilateral abnormalities, whereas postictal EEG after status epilepticus showed overt slowing on the left side, suggesting a predominant involvement of ictal activity of the left hemisphere. We hypothesize that in our patient, the left hemisphere might have been more prominently affected by the pathogenetic abnormalities underlying alternating hemiplegia of childhood, rendering it more prone to early ischaemic lesions and recurrent unilateral status epilepticus. We speculate whether alternating hemiplegia of childhood shares some common pathophysiological mechanisms with familial hemiplegic migraine that may be associated with a pathogenic variant of ATP1A2.
我们描述了一例患有交替性偏瘫的儿童病例，其携带ATP1A3基因杂合p.E815K致病性变异。该患者在出生后的头几天开始出现异常眼动，随后在2个月时出现张力障碍发作，后来又出现更频繁的右侧交替性偏瘫复发发作。严重癫痫在2岁时开始发作，自发作起就频繁出现癫痫持续状态发作，需要入住重症监护病房。MRI显示双侧内侧颞叶硬化和左侧缺血性病变。发作间期脑电图显示双侧异常，而癫痫持续状态后的发作后期脑电图显示左侧明显减慢，提示左半球发作活动受累为主。我们推测，在我们的患者中，左半球可能更显著地受到儿童交替性偏瘫潜在致病异常的影响，使其更容易出现早期缺血性病变和复发性单侧癫痫持续状态。我们推测儿童交替性偏瘫是否与家族性偏瘫性偏头痛有一些共同的病理生理机制，这可能与ATP1A2基因的致病性变异有关。
