56例难治性癫痫患儿遗传代谢异常筛查

Screening of inherited metabolic disorder in 56 children with intractable epilepsy

目的 探讨小儿难治性癫（痫）（IE）不同遗传代谢异常情况,以利早期进行病因及对症治疗.方法 运用气相色谱-质谱（GC/MS）和串联质谱（MS/MS）技术对56例IE患儿尿和血标本进行包括氨基酸、有机酸及脂肪酸等代谢异常筛查,并进行尿常规、肝功能、血生化、脑部影像学及脑干听、视觉诱发电位等检查.结果 56例IE患儿中,25例（44.6％）尿筛查异常,其中全面性发作6例（24.0％）,部分性发作5例（20.0％）,全面性或部分性等多种形式发作2例（8.0％）,婴儿痉挛症12例（48.0％）.46例IE患儿进行了血筛查,13例异常.27例尿或血筛查异常IE患儿中19例智力运动发育落后或倒退（70.4％）,头颅影像学异常及脑干诱发电位异常各15例（55.6％）,血生化、血气分析异常及异常家族史各6例（22.2％）,肝功能异常及皮肤改变各5例（18.5％）.11例（19.6％）IE患儿尿或血筛查结果呈典型改变,确诊为先天性遗传性代谢病.结论 遗传代谢异常为IE常见致病原因,尤以婴儿痉挛症多见.因此对IE患儿应尽早进行先天性代谢异常筛查,以助早期诊断及治疗。

Objective To investigate the inherited metabolic characteristics in children with intractable epilepsy （IE） for better etiological and symptomatic treatments.Methods Urine and blood samples were collected from 56 IE children to screen for metabolic disorders through chromatography-mass spectrometry （GC/MS） and tandem mass spectrometry （MS/MS）.Meanwhile,routine urinalysis,hepatic function test,blood biochemistry test,brain imaging,examinations of auditory and visual evoked potentials were carried out.Results 25 out of 56 IE children （44.6%） presented abnormal urinalysis results,including 12 cases of infantile spasms （48.0%）,6 cases of generalized seizure （24.0%）,5 cases of partial seizure （20.0%） and 2 cases of multiple seizure （8.0%）.13 out of 46 children patients showed abnormal blood test results.Among 27 IE patients with abnormalities in urine or blood test,there were 19 cases （70.3 %）of delay or regression in intelligence and motor development,15 cases （55.5%） of abnormal brain images and evoked potentials in the brain stem,6 cases （22.2%） of abnormal family history,blood biochemical results and blood gas analysis results,and 5 cases （18.5%） of skin changes and abnormal hepatic function.11 child patients （19.6%） were diagnosed with inherited metabolic disease due to the typical changes in their urine or blood.Conclusions Inherited metabolic disorder is a common cause for IE,where infantile spasms were easily seen.Early screening is suggested to be performed for early diagnosis and treatment.