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目的观察28例甲基丙二酸血症(MMA)患儿正中神经体感诱发电位(MN-SEP)特点,探讨MN-SEP在MMA患儿中的临床应用价值。方法对1999年1月-2007年5月临床确诊的28例MMA患儿进行MN-SEP检查。其中男21例,女7例;年龄5个月~12岁5个月。其尿液有机酸测定采用气相色谱/质谱联用分析(GC-MS),MN-SEP检查应用尼高力肌电型诱发电位测试仪对MMA患儿进行检测。结果28例患儿尿液中甲基丙二酸水平明显升高。23例于婴儿期起病和2例于幼儿期发病的患儿临床表现以神经系统损害为主;1例学龄前期起病和2例学龄晚期起病的患儿智力、运动倒退突出。患儿均伴头颅影像学改变,头颅CT或MR I主要表现为脑沟增宽、脑室扩大脑室旁低密度灶。28例MMA患儿中24例MN-SEP异常(85.7%),主要为2例(7.1%)N9潜伏期延长,14例(50%)N9-N13峰间期延长,19例(67.9%)N13-N20峰间期延长,1例(3.6%)N20波形消失。结论MMA患儿的MN-SEP异常发生率高,MN-SEP检测有助于发现MMA患儿的神经系统感觉传导功能异常。
Objective To observe the characteristics of median nerve somatosensory evoked potential (MN-SEP) in 28 children with MMA and to explore the clinical value of MN-SEP in MMA. Methods MN-SEP was performed in 28 MMA patients diagnosed from January 1999 to May 2007. There were 21 males and 7 females, ranging in age from 5 months to 12 years and 5 months. The urinary organic acids were determined by Gas Chromatography / Mass Spectrometry (GC-MS) and MN-SEP in patients with MMA. Results Urine of 28 cases of children with methylmalonic acid levels were significantly higher. Twenty-three infants with onset in infancy and two infants with infantile onset mainly suffered from neurological damage. One patient with pre-school age and two with late school-age onset had prominent mental and motor regression. Children were accompanied by changes in head imaging, cranial CT or MR I mainly for the sulci widened, ventricular expansion of low density lesions around the ventricle. Of the 28 MMA patients, 24 had MN-SEP abnormalities (85.7%), mainly 2 cases (7.1%) with prolonged N9 latency, 14 (50%) N9-N13 prolonged interphases and 19 cases (67.9%) N13 N20 peak interval prolongation, 1 case (3.6%) N20 waveform disappears. Conclusions The incidence of MN-SEP abnormalities in children with MMA is high, and the MN-SEP test may be helpful to find out the abnormal sensory function of NOS in children with MMA.