粘多糖病ⅢA型合并癫癇1例报道及文献复习

Mucopolysaccharidosis type ⅢA(sanfilippo syndrome type A) with epilepsy:case report and review of literature

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 discuss the clinical symptom, electroencephalographic features and treatment of Mucopolysaccharidosis Type ⅢA （MPS ⅢA, Sanfilippo Syndrome Type A） with epileptic seizure. Methods We reported a case of MPS ⅢA with epileptic seizure including its all clinical data. Results The patient had been diagnosed with MPS ⅢA when he was 6. 5 years old. Seizures appeared in his 3-year-old and became more frequently after his 9-year-old （1- 2 times per day）. The seizure was generalized tonic-clonic one ac- companying with throaty vocalization. Other main symptoms included less sleeping time, more excitement and irritability. The interictal electroencephalogram （EEG） showed an anterior slow wave rhythm with lots of a- typical triphasic waves. Topiramate was first prescribed to control seizure with some improvement. Then Phe- nobarbitone was added and the effect appeared well, meanwhile his sleep and emotions disorders got better. Conclusions Patients of MPS ⅢA with epileptic seizure always have sleeping and emotional disorders with some special features in EEG. Seizure could be safely controlled by Topamax in combination with Phenobarbi- tone, and the sleeping and emotional disorders could be improved at the same time.