动态脑电图在甲基丙二酸血症继发癫痫中应用价值

Ambulatory electroencephalogram in detecting secondary epilepsy in infants with methylmalonic acidemia

目的观察甲基丙二酸血症(methylmalonic aciduria, MMA)继发癫痫患儿动态脑电图特征,分析其在MMA继发癫痫中的应用价值。方法回顾性分析3例新生儿期和婴儿期确诊的MMA并继发癫痫患儿的临床资料和动态脑电图结果。结果 3例患儿均在出生后3个月内首次发病,初次诊断MMA的年龄为6~80 d;以黄疸、反复呕吐、拒乳、抽搐、呼吸困难、肌张力低下、贫血等为首发症状;3例均出现继发性癫痫,1例有惊厥发作的MMA患儿动态脑电图表现为弥漫性慢波背景伴间歇期局灶性癫痫样放电,并监测到3次电发作;2例无惊厥发作的MMA患儿动态脑电图表现为局灶性癫痫样放电和弥漫性和(或局灶性)慢波背景。结论动态脑电图监测有助于发现MMA患儿的癫痫样放电,对MMA的早诊断、治疗有重要意义。

Objective To observe the ambulatory electroencephalogram(EEG) features of secondary epilepsy in infants with methylmalonic academia(MMA) and to analyze the application value of ambulatory EEG to the detection of secondary epilepsy in infants with MMA. Methods The clinical data and ambulatory EEG results were retrospectively analyzed in 3 MMA infants with secondary epilepsy. Results All these 3 infants had initial onset in 3 months after birth, and were diagnosed with MMA by day 6 to 80 after birth, with the initial symptoms of jaundice, repeated vomiting, sucking rejection, convulsions, dyspnea, hypotonia and anemia. Secondary epilepsy occurred in all infants during treatment. Ambulatory EEG detected diffuse slow wave with intermittent focal epileptic discharge in 1 MMA infant with convulsions, and 3 electrical seizures were detected, while the other two infants with no convulsions were detected focal epileptic discharge and diffuse and/or focal slow wave. Conclusion The ambulatory EEG monitoring contributes to the detection of epileptic discharges, and plays an important role in the early diagnosis and treatment of MMA in infants.