目的:进行性肌阵挛性癫痫1型是一种神经退行性疾病,其特征是动作和刺激敏感的肌阵挛性,强直-阵挛性癫痫发作,进行性小脑共济失调,保留的认知,可怜的结果。作者报告了临床,神经生理学,放射学,以及一个有五个受影响兄弟姐妹的阿联酋家庭的遗传发现,并回顾文献。
方法:所有有关家族史和临床病史的数据,神经系统检查,实验室测试,脑电图,脑成像,和DNA分析进行了检查。
结果:基因检测证实了在两名男性和三名女性中诊断为常染色体隐性遗传进行性肌阵挛性癫痫1型(EPM1)。发病年龄中位数为3岁。我们100%的患者都记录了动作或刺激敏感的肌阵鸣和全身性癫痫发作。在3岁和4岁发病的中位年龄,分别。在我们的80%的患者中观察到多节段肌阵挛性和广泛性肌阵挛性状态。我们100%的患者出现构音障碍和共济失调。在我们的队列中100%发现了维生素D缺乏和复发性病毒感染。Cognitive,学习,运动障碍涉及100%的患者。60%的患者括约肌受到影响。在我们队列的100%中记录了异常的EEG。在我们的60%的患者中,广泛性脑萎缩逐渐发生。我们的60%的患者使用了苯妥英和卡马西平,效果恶化。丙戊酸钠和左乙拉西坦均应用于我院100%的患者,改善效果良好。
结论:这是第一个在阿联酋报告EPM1家族的报告。我们的研究强调了一种表达为早期疾病发作的特定表型,严重的肌阵挛症,和全身性癫痫发作。Cognitive,小脑,电机,自主神经功能障碍和脑萎缩的发病时间也比以前报道的更早和更严重。反复病毒感染是另一个独特的特征。以前在文献中没有报道过这种观念。
OBJECTIVE: Progressive myoclonic epilepsy type one is a neurodegenerative disorder characterized by action- and stimulus-sensitive myoclonus, tonic-clonic seizures, progressive cerebellar ataxia, preserved cognition, and poor outcome. The authors report clinical, neurophysiological, radiological, and genetic findings of an Emirati family with five affected siblings and
review the literature.
METHODS: All data concerning familial and clinical history, neurologic examination, laboratory tests, electroencephalogram, brain imaging, and DNA analysis were examined.
RESULTS: Genetic testing confirmed the diagnosis of autosomal recessive progressive myoclonic epilepsy type 1 (EPM1) in two males and three females. The median age at onset was three years. Action- or stimulus-sensitive myoclonus and generalized seizures were recorded in 100% of our patients, at median age at onset of 3 and 4 years, respectively. Multisegmental myoclonus and generalized status myoclonicus were observed in 80% of our patients. Dysarthria and ataxia developed in 100% of our patients. Vitamin D deficiency and recurrent viral infections were noticed in 100% of our cohort. Cognitive, learning, and motor dysfunctions were involved in 100% of our patients. The sphincters were affected in 60% of our patients. Abnormal EEG was recorded in 100% of our cohort. Generalized brain atrophy progressively occurred in 60% of our patients. Phenytoin and carbamazepine were used in 60% of our patients with worsening effect. Valproate and levetiracetam were used in 100% of our patients with improving effect.
CONCLUSIONS: This is the first to report a family with EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus, and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier at onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.