Ma Xiuwei, Zhang Yuehua, Yang Yanling, Liu Xiaoyan, Yang Zhixian, Bao Xinhua, Qin Jiong, Wu Xiru
Department of Pediatrics, Peking University First Hospital, Beijing, PR China.
Brain Dev. 2011 Oct;33(9):790-5. doi: 10.1016/j.braindev.2011.06.001. Epub 2011 Jul 20.
To summarize the electroclinical features and prognosis of epilepsy in children with methylmalonic acidemia (MMA).
The medical records of hospitalized MMA patients associated with epilepsy were retrospectively reviewed. The clinical manifestations, laboratory examination results, and treatment modalities were analyzed.
From 63 pediatric inpatients diagnosed as MMA in Peking University First Hospital from June 1996 to December 2009, 27 children (42.9%) associated 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 spasms (n=2). Five patients had two or three seizure types. Nine patients (33.3%) had a history of status epilepticus. EEG showed slow background activity in 17 patients, focal or multifocal paroxysmal discharges in 16 patients, generalized paroxysmal discharges in four patients, hypsarrythmia in two patients, and suppression-burst pattern in one patient. Cranial MRI scans showed bilateral cerebral atrophy (n=14), increased T2 signal intensities in white matter (n=12), agenesis of corpus callosum (n=2), bilateral increased T2 signal intensities or necrosis 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.
Epilepsy is a common manifestation of patients with MMA. Partial seizure 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.
总结甲基丙二酸血症（MMA）患儿癫痫的临床电生理特征及预后。
回顾性分析住院的合并癫痫的MMA患者的病历资料。对临床表现、实验室检查结果及治疗方式进行分析。
1996年6月至2009年12月北京大学第一医院确诊为MMA的63例儿科住院患者中，27例（42.9%）合并癫痫纳入本研究。这27例患者还伴有其他神经学表现，包括智力发育迟缓或倒退（n = 22）、嗜睡（n = 10）、肌张力增高（n = 8）、肌张力低下（n = 8）、反复呕吐（n = 4）、震颤（n = 2）、共济失调（n = 2）及姿势异常（n = 1）。癫痫发作起始年龄为8天至11岁。发作类型包括部分性发作（n = 21）、全身强直 - 阵挛发作（n = 5）、强直发作（n = 3）、肌阵挛发作（n = 3）及癫痫性痉挛（n = 2）。5例患者有两种或三种发作类型。9例患者（33.3%）有癫痫持续状态病史。脑电图显示17例患者背景活动减慢，16例患者有局灶性或多灶性阵发性放电，4例患者有全身性阵发性放电，2例患者有高峰节律紊乱，1例患者有抑制 - 爆发模式。头颅磁共振成像扫描显示双侧脑萎缩（n = 14）、白质T2信号强度增加（n = 12）、胼胝体发育不全（n = 2）、双侧基底节T2信号强度增加或坏死（n = 2）及小脑萎缩（n = 1）。21例患者为MMA合并高同型半胱氨酸血症。17例患者确诊为钴胺素C病，1例为部分变位酶缺乏（mut(-)）。维生素B12反应性患者较维生素B12无反应性患者预后好。
癫痫是MMA患者的常见表现。部分性发作比其他发作类型更常见。对于病因不明的合并其他神经学表现的癫痫患儿应进行尿有机酸分析，以便及时明确病因并改善预后。
