Ⅰ型神经纤维瘤(NF1)相关癫痫的诊疗研究进展

Progress of diagnosis and clinical management of NF1-related epilepsy

Ⅰ型神经纤维瘤病(neurofibromatosis typeⅠ,NF1)是一种常染色体显性遗传的神经皮肤综合征,其典型表现包括皮肤牛奶咖啡斑、腋窝或腹股沟雀斑、虹膜Lisch结节、长骨发育障碍及智力发育障碍等。癫痫是NF1患者常见的神经系统表现,NF1相关癫痫临床表现复杂多样,常合并头颅影像学改变,且本病往往药物治疗效果欠佳,应尽早识别合并明确致痫灶的患者并考虑行癫痫手术治疗。本文重点综述NF1相关癫痫的临床特点、诊断要点、发病机制及治疗研究进展,以提高本病的临床诊疗水平。

Neurofibromatosis Type I(NF1) is an autosomal-dominant neuroskin syndrome.The main character of NF1 include café-au-lait macules(CALMs),axillary or inguinal freckling,iris Lisch nodules,bone dysplasia and intellectual development disorders.Epilepsy is a common neurological manifestation in patients with NF1.The clinical manifestations of NF1-related epilepsy are complex and diverse,often complicated with neuroimaging changes,and its drug reaction is usually poor.Patients with definite epileptic foci should be identified earlier and surgical treatment of epilepsy should be considered.This paper focuses on the clinical characteristics,diagnosis,pathogenesis and treatment of NF1-related epilepsy,so as to improve the diagnosis and treatment level of this disease.