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目的探讨粘多糖病ⅢA型(MPS ⅢA)合并癫癇发作的临床表现、脑电图特征及治疗。方法报道1例MPS ⅢA合并有癫癇发作患者的临床资料并复习相关文献。结果本例患者6岁半时确诊粘多糖病IIIA型(MPS ⅢA),3岁时首次癫癇发作,9岁后发作频繁(1～2次/d),同时睡眠时间减少、易兴奋、性格急躁,癫癇发作表现为全面性强直-阵挛发作并喉部发声,其发作间期脑电图特征为双侧前头部(额极-额-前颞区)低-中波幅慢波假节律样发放伴多量不典型三相波发放,初期单用妥泰疗效不佳,合用苯巴比妥治疗后发作得到有效控制,睡眠和情绪障碍改善明显。结论粘多糖病ⅢA型(MPS ⅢA)合并癫癇发作患儿伴有睡眠、情绪障碍,发作间期脑电图具有一定的特征性,妥泰联合苯巴比妥可有效控制患儿癫癇发作,并在一定时期内改善患儿睡眠和情绪。
Objective To investigate the clinical manifestations, electroencephalogram characteristics and treatment of mucopolysaccharidosis type Ⅲ A (MPS Ⅲ A) complicated with seizures. Methods A case of MPS Ⅲ A with seizure in patients with clinical data and review the relevant literature. Results This patient was diagnosed with mucopolysaccharidosis type IIIA (MPS ⅢA) at age 6 and a half years, with first seizure at 3 years of age and frequent seizures after 9 years of age (1 or 2 times per day), with reduced sleep time, irritability, impatience , Epileptic seizures showed a comprehensive tonic - clonic seizures and laryngeal sound, the interictal EEG characteristics of bilateral anterior head (front - front - frontal area) low - medium amplitude slow wave rhythm Dispensing with a large number of atypical three-phase wave release, the initial single use of topiramate poor efficacy, combined with phenobarbital seizures have been effectively controlled, sleep and mood disorders improved significantly. Conclusion Mucopolysaccharidoses ⅢA (MPS Ⅲ A) with sleep disorders and mood disorders in children with seizure have some characteristics of interictal EEG, and topiramate combined with phenobarbital can effectively control seizures in children In a certain period of time to improve children’s sleep and emotions.