甲基丙二酸血症合并癫痫27例临床特点及预后分析

总结甲基丙二酸血症（MMA）合并癫痫的临床特点及预后。方法　对1997年1月至2009年12月北京大学第一医院儿科住院确诊的27例MMA合并癫痫发作患儿的临床资料、辅助检查结果、随访资料进行分析。结果　27例患儿除癫痫发作外，合并其他神经系统受损表现包括：智力运动发育落后或倒退22例、发作性嗜睡10例、肌张力增高8例、肌张力减低8例、反复呕吐4例、震颤和共济失调各2例、姿势异常1例。癫痫首次发作年龄为生后8d至11岁，发作类型包括部分性发作21例、全面强直阵挛发作5例、强直发作3例、肌阵挛发作3例，痉挛发作2例；5例患儿同时有2～3种发作类型。脑电图（EEG）检查有22例异常，包括：背景节律慢17例，局灶或多灶性痫样放电16例、广泛性痫样放电4例、高度失律2例和爆发抑制1例。头颅MRI检查24例显示脑萎缩14例，脑白质异常信号12例，胼胝体发育不良2例，双侧基底节病变2例和小脑萎缩1例。维生素B12有效型较维生素B12无效型患儿预后好。结论　癫痫是MMA的常见症状，部分性发作较其他发作类型更常见。对不明原因的癫痫患儿若伴其他神经系统症状，应进行尿有机酸分析，早期明确病因诊断，改善预后。

Electroclinical features and prognosis of epilepsy in children with methylmalonic acidemia.

Abstract：Objective　To summarize the clinical features and prognosis of epilepsy in children with MMA. Methods　From Jan. 1997 to Dec. 2009 in Department of Pediatrics，Peking University First Hospital，the medical records of hospitalized MMA patients complicated with epilepsy were retrospectively reviewed. The clinical manifestations，laboratory examination results，and treatment modalities were analyzed. Results　From 63 pediatric inpatients diagnosed with MMA，27 children （42.9%） complicated with epilepsy were enrolled in this study. These 27 patients were also accompanied with other neurological manifestations， including mental retardation or regression （n = 22），lethargy （n = 10），increased muscle tone （n = 8），muscle hypotonia （n = 8），recurrent vomiting （n = 4），tremor （n = 2），ataxia （n = 2），and abnormal posture （n = 1）.The onset age of seizure ranged from 8 days to 11 years. The seizure types included partial seizure（n = 21），generalized tonic-clonic seizure （n = 5），tonic seizure （n = 3），myoclonic seizure （n = 3），and epileptic spasm （n = 2）. Five patients had 2 or 3 seizure types. Nine patients （33.3%） had a history of status epilepticus. EEG showed slow background activity in 17 patients，focal or multifocal discharges in 16 patients，generalized discharges in 4 patients，hypsarrathmia in 2 patients，and suppression-burst pattern in 1 patient. Cranial MRI showed cerebral atrophy （n = 14），white matter changes （n = 12），agenesis of corpus callosum （n = 2），abnormal signal in basal ganglia （n = 2），and cerebellar atrophy （n = 1）. Twenty-one patients were MMA combined with homocysteinemia.Seventeen patients were confirmed with cobalamin C disease and one with partial mutase deficiency （mut-）. Vitamin B12-responsive patients had a better outcome compared with vitamin B12-unresponsive patients. Conclusion　Epilepsy is a common manifestation of patients with MMA.Partial seizures is more common than other seizure types.Urine organic acid analysis should be performed for children with unknown cause of epilepsy combined with other neurological manifestations， so as to promptly identify the etiology and improve the prognosis.