Zhang J, Zhang Y H, Chen J Y, Zhang L P, Zeng Q, Tian X J, Yang Z X, Wu Y, Yang X L, Wu X R
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Zhonghua Er Ke Za Zhi. 2018 Sep 2;56(9):667-673. doi: 10.3760/cma.j.issn.0578-1310.2018.09.007.
To summarize the clinical features of TBC1D24 gene mutations associated with epilepsy. All the patients with TBC1D24 gene compound heterozygous mutations were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2015 to July 2017, and the features of clinical manifestations, electroencephalogram, and neuroimaging were analyzed. Eighteen cases with TBC1D24 gene compound heterozygous mutations were included. The age of seizure onset was 1 day to 8 months, and the median age was 90 days. Seizure types included generalized tonic-clonic seizures (GTCS) in 3 cases, focal seizures in 18 cases, myoclonus in 18 cases, and 17 cases had focal myoclonus and myoclonus status. The focal myoclonus involving one or multiple muscle groups, sometimes migrating and alternating, lasting up to minutes to several days, and could be terminated by sleep or sedation drugs. In 11 cases, myoclonus was exacerbated by fever or infections, and 2 cases developed into myoclonic status during infection, in a severe case with the loss of consciousness. The magnetic resonance imaging (MRI) of seven patients was abnormal, including cerebral atrophy or cerebellar atrophy with abnormal signals. Segment myoclonus was captured in 10 patients, but without correlated epileptiform discharges. There were ten cases had varying degrees of developmental delay, 7 were normal, and one patient died of status epilepticus at the age of 4 months. Three cases had hearing disorders. In the 18 patients, the clinical phenotype of 4 cases consisted of epilepsy of infancy with migrating focal seizures, 2 with progressive myoclonus epilepsies, 1 with Dravet syndrome, 1 with DOORS syndrome, and 3 with unclassified epileptic encephalopathy. The clinical feature of TBC1D24 gene mutation related epilepsy was focal myoclonus, and tended to develop into myoclonic status epilepticus, and could be aggravated by infections, and terminated by sleep or sedation drugs. Mental retardation involved or not, neuroimaging could present with cerebral atrophy or cerebellar atrophy with abnormal signals.
总结与癫痫相关的TBC1D24基因突变的临床特征。回顾性收集2015年3月至2017年7月北京大学第一医院儿科所有携带TBC1D24基因复合杂合突变的患者，并分析其临床表现、脑电图及神经影像学特征。纳入18例携带TBC1D24基因复合杂合突变的患者。癫痫发作起始年龄为1天至8个月，中位年龄为90天。发作类型包括3例全面强直-阵挛发作（GTCS）、18例局灶性发作、18例肌阵挛发作，17例有局灶性肌阵挛和肌阵挛持续状态。局灶性肌阵挛累及一个或多个肌肉群，有时游走和交替出现，持续数分钟至数天，可通过睡眠或镇静药物终止。11例患者的肌阵挛因发热或感染而加重，2例在感染期间发展为肌阵挛持续状态，其中1例病情严重，出现意识丧失。7例患者的磁共振成像（MRI）异常，包括脑萎缩或小脑萎缩伴信号异常。10例患者记录到节段性肌阵挛，但无相关癫痫样放电。10例患者有不同程度的发育迟缓，7例发育正常，1例患者在4个月时死于癫痫持续状态。3例患者有听力障碍。在18例患者中，4例的临床表型为婴儿期迁移性局灶性癫痫，2例为进行性肌阵挛癫痫，1例为Dravet综合征，1例为DOORS综合征，3例为未分类的癫痫性脑病。TBC1D24基因突变相关癫痫的临床特征为局灶性肌阵挛，易发展为肌阵挛持续状态，可因感染而加重，可通过睡眠或镇静药物终止。有无智力发育迟缓，神经影像学均可表现为脑萎缩或小脑萎缩伴信号异常。
