先天代谢缺陷病并眼外肌麻痹9例

Inborn Errors of Metabolism Combined with External Ophthalmoplegia in 9 Children

目的探讨合并眼外肌麻痹症状的先天代谢缺陷病患儿的临床特征、实验室检查及诊断。方法对9例先天代谢缺陷病合并眼外肌麻痹患儿的临床资料进行回顾性分析,包括病史、临床症状、体格检查、血液学检测、尿液气相色谱-质谱连用分析、肌肉活检、线粒体基因检测、影像学及电生理检查。结果9例患儿中,仅1例由家长提供视物不清病史。患儿均存在智力、运动发育落后或倒退,5例惊厥,3例昏迷,2例表现为走路不稳伴步态僵硬,1例出现行为异常。血液学检测发现3例失代偿性代谢性酸中毒,4例血乳酸升高,3例心肌酶谱升高,2例血极长链脂肪酸升高,1例尿铜及血铜蓝蛋白异常。9例患儿头颅MRI检查呈不同形式改变;8例行视频脑电图检测,2例正常,6例异常,其中表现为慢波背景伴癫性放电3例,慢性背景2例,性放电1例。3例患儿ECG检查出现异常。2例患儿肌肉活检异常。2例线粒体基因检测阳性。结论眼外肌麻痹是先天代谢缺陷病的症状之一,对于临床出现此症状的患儿要考虑到代谢病的可能,及早筛查,避免漏诊。

Objective To explore the clinical features,laboratory tests and diagnosis in children with inborn crofts of metabolism com- bined with external ophthalmoplegia. Methods The clinical data of 9 patients with inborn errors of metabolism combined with external oph- thalmoplegia were retorspectively analyzed,including history taking, clinical symptom, medical examination, blood analysis, gaschromato graphy - mas spectrometry（ GC/MS）, muscle biopsy, chondriogene detection, imageology and electrophysiological examination. Results Only 1 case was admissed according to the history of seeing not pure provided by parents. Mental retardation was found in all patients, seizures in 5 pa- tients, comas in 3 patients, abnormal walking posture in 2 patients, behavior disorder in 1 patient. The laboratory findings showed metabolic aci- dosis in 3 cases, elevated plasma lactic acid in 4 cases, elevated cardiac enzymes in 3 cases, high plasma levels of very long chain fatty acids in 2 patients, abnormal ceruloplasmin and urinary copper excretion in 1 case. MRI of 9 patients showed changes in different forms. Video elec- troencephalogrram was performed in 8 cases ,2 cases of them showed normal results and 6 cases of them showed abnormal results. Ectroeardio- graphic findings were abnormal in 3 patients. Muscle biopsys were abnormal in 2 patients, mitochondrial gene of 2 cases were positive. Conclu- sions External ophthalmoplegia is one of the signs of inborn errors of metabolism. We should consider metabolic disorder when this sympotom appeared and carry out the screeing early to avoid missed diagnosis.