Kimiskidis V K, Sotirakoglou K, Kazis D A, Papaliagkas V, Chatzikyriakou E
Laboratory of Clinical Neurophysiology, AHEPA University Hospital, Aristotle University of Thessaloniki, Greece.
Laboratory of Mathematics and Statistics, Agricultural University of Athens, Greece.
Hippokratia. 2017 Apr-Jun;21(2):101.
The Hemiconvulsions-Hemiplegia-Epilepsy (HHE) syndrome is currently regarded as an extremely rare condition. The etiological and pathophysiological mechanisms underlying this medical rarity as well as the optimal therapeutic approaches remain poorly defined and understood. We present the clinical, radiological and electroencephalography (EEG) findings of a patient with the HHE syndrome and describe the response of the continuously present epileptiform abnormalities to transcranial magnetic stimulation (TMS).
A 33-year old male patient was referred to our department for investigation and management of intractable epilepsy. His seizures began at the age of three months when, during the course of a common febrile illness, he developed repetitive clonic seizures involving the left upper and lower limbs, followed by permanent left hemiplegia. After extensive investigations, he was diagnosed with "idiopathic" HHE syndrome. Currently, he suffers from left hemiplegia, severe intellectual impairment [Intelligence Quotient (IQ) <30] and asymmetric, bilateral tonic seizures occurring 1-3 times daily despite treatment with valproate, topiramate, lamotrigine, rufinamide, and perampanel. Brain magnetic resonance imaging revealed atrophy of the right hemisphere and serial EEGs disclosed continuous sharp waves, the generators of which were localized by electrical source imaging (ESI) to two distinct sources within the right hemisphere. Repetitive TMS [210 stimuli of 1 Hz at 100 % corticomotor threshold applied with a circular coil over the generators of epileptic discharges (EDs)] resulted in a statistically significant decrease of ED counts compared to sham stimulation and the post-verum TMS period.
We present the clinical-laboratory profile and the long-term follow up of a patient with the HHE syndrome. Further, we describe the effects of TMS on EDs. The latter observation raises the possibility that TMS-EEG may be used in select cases with intractable epilepsy as a surrogate marker of responsiveness to more invasive modalities (i.e., cortical stimulation). HIPPOKRATIA 2017, 21(2): 101-104.
偏瘫-偏瘫-癫痫（HHE）综合征目前被认为是一种极其罕见的病症。这种医学罕见病的病因和病理生理机制以及最佳治疗方法仍未得到明确界定和充分理解。我们展示了一名HHE综合征患者的临床、放射学和脑电图（EEG）检查结果，并描述了持续存在的癫痫样异常对经颅磁刺激（TMS）的反应。
一名33岁男性患者因难治性癫痫被转诊至我科进行检查和治疗。他的癫痫发作始于三个月大时，在一次普通发热性疾病过程中，他出现了涉及左上肢和下肢的重复性阵挛性发作，随后出现永久性左侧偏瘫。经过广泛检查，他被诊断为“特发性”HHE综合征。目前，尽管接受了丙戊酸盐、托吡酯、拉莫三嗪、卢非酰胺和吡仑帕奈治疗，但他仍患有左侧偏瘫、严重智力障碍[智商（IQ）<30]以及每天发作1 - 3次的不对称双侧强直性发作。脑磁共振成像显示右半球萎缩，系列脑电图显示持续的尖波，其起源通过电源成像（ESI）定位到右半球内两个不同的来源。与假刺激和真刺激后时期相比，在癫痫放电（EDs）起源部位上方使用圆形线圈以100%皮质运动阈值施加重复TMS[1赫兹的210次刺激]导致ED计数有统计学意义的减少。
我们展示了一名HHE综合征患者的临床实验室资料和长期随访情况。此外，我们描述了TMS对EDs的影响。后一观察结果增加了TMS - EEG可在某些难治性癫痫病例中用作对更具侵入性治疗方式（即皮质刺激）反应性替代标志物的可能性。《希波克拉底》2017年，21(2): 101 - 104。
