维生素B_(12)反应型甲基丙二酸血症患儿的脑干听觉诱发电位改变

Evoked potentials in children with methylmalonic academia

目的总结维生素B12反应型甲基丙二酸血症(methylmalonic acidemia,MMA)患儿脑干听觉诱发电位的(BAEP)特点。方法选择已确诊的MMA患儿15例进行BAEP检查。并对长期随诊的9例MMA患儿进行了治疗后复查。结果①维生素B12反应型MMA患儿BAEP异常检出率是53%。②BAEP异常主要为:I波潜伏期延长3例;听阈升高1例;I-IIIIPL、III-VIPL延长各3例。③维生素B12反应型甲基丙二酸血症患儿诱发电位异常改变可随病情的好转而改善或转为正常。结论甲基丙二酸血症患儿存在脑干听觉诱发电位异常,脑干听觉诱发电位检测可反映甲基丙二酸血症患儿神经系统传导功能异常,并可用于病情监测。

Objectiv To investigate the characteristics and clinic value of brainstem auditory evoked potentials in children with VitB12 responsive methylmalonic acidemia. Motheds Recorded 15 VitBi2 responsive methylmalonic aeidemia children＇s BAEP. After treatment of Vitamine Bl2, BAEP were recorded in 9 return children which were VitB12 esponsive to find the changes, and the relationship between evoked potentials and clinical findings. Results ① The abnormality detection rate of brainstem auditory evoked potentials was 53%. ② The main abnormal parameters in BAEP were latency prolongation in wave I （3/15）, increase of auditory threshold （1/15）; inter-peak latency prolongation in Ⅰ-Ⅲ （3/15）, Ⅲ-Ⅴ（3/15）. ② The BAEP abnormality of VitB12 responsive patients disappeared or took a favourable return after the effective treatment. Conclusions the detection of BAEP in VitB12 responsive methylmalonic acidemia reveals the abnormality of conductive function in nervous system and is a useful method in monitoring the state of the disease and effect of the treatment.