上海交通大学学报（医学版）

›› 2011, Vol. 31 ›› Issue (10): 1444-.doi: 10.3969/j.issn.1674-8115.2011.10.019

• 论著（临床研究） • 上一篇    下一篇

81例遗传代谢病患儿神经系统损害和症状分析

何大可, 张建明, 邵新华, 宋小青, 吴 静, 顾学范   

  1. 上海交通大学 医学院附属新华医院儿内科, 上海 200092
  • 出版日期:2011-10-28 发布日期:2011-10-27
  • 通讯作者: 张建明, 电子信箱: mm166@qq.com。
  • 作者简介:何大可(1974—), 男, 主治医师, 博士；电子信箱: hedake@139.com。

Analysis of impaired nervous system and symptoms in 81 children with inherited metabolic disorders

HE Da-ke, ZHANG Jian-ming, SHAO Xin-hua, SONG Xiao-qing, WU Jing, GU Xue-fan   

  1. Department of Pediatrics, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
  • Online:2011-10-28 Published:2011-10-27

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摘要：

目的 探讨遗传代谢病患儿神经系统损害的临床特征。方法 回顾总结81例遗传代谢病患儿的临床表现、生化指标及影像学等辅助检查资料，结合串联质谱、气相质谱、酶学检查等特殊检查予以综合分析。结果 81例遗传代谢病患儿中，甲基丙二酸血症14例，甲基丙二酸血症伴同型半胱氨酸血症5例，丙酸血症4例，枫糖尿病3例，鸟氨酸氨甲酰转移酶缺乏症2例，戊二酸血症1例，瓜氨酸血症1例，精氨酸血症1例，苯丙酮尿症3例，生物素酶缺乏症1例，糖原累积症17例，黏多糖病1例，脑白质营养不良4例，肝豆状核变性24例。主要临床表现有惊厥、意识障碍、运动发育落后、发育倒退、智能低下、喂养困难、呕吐；头颅CT或磁共振成像显示脑发育不良、脑软化、脑白质异常信号，脑电图显示慢波或样活动。结论 遗传代谢病患儿常以惊厥、发育落后、发育倒退、意识障碍、智能低下等神经系统表现而就诊，对患儿应尽早予遗传代谢病筛查以得到早期诊断及合理治疗而改善预后。

关键词: 遗传代谢病, 儿童, 神经系统特征

Abstract:

Objective To analyse the clinical characteristics of nervous system of children with inherited metabolic disorders. Methods The clinical manifestations, biochemical parameters and imaging data of 81 children with inherited metabolic disorders were retrospectively reviewed, and were comprehensively analysed on the basis of findings of tandem mass spectrometry, gas chromatography mass spectrometry and enzymological examinations. Results Among the 81 children with inherited metabolic disorders, there were 14 cases of methylmalonic acidemia, 5 cases of methylmalonic acidemia with homocysteinuria, 4 cases of  propionic acidemia, 3 cases of maple syrup urine disease, 2 cases of ornithine transcarbamylase deficiency, 1 case of glutaric acidemia, 1 case of citrullinemia, 1 case of argininemia, 3 cases of phenylketonuria, 1 case of biotinidase deficiency, 17 cases of glycogenosis, 1 case of mucopolysaccharidosis, 4 cases of leukodystrophy and 24 cases of Wilson disease. The common clinical manifestations were seizure, development retardation or retrogression, disturbance of consciousness, mental retardation, feed difficulty and vomiting. Head CT or magnetic resonance imaging revealed brain dysplasia, encephalomalacia and abnormal white matter signal, and electroencephalography displayed slow wave or epileptiform activity. Conclusion Inherited metabolic disorders are characterized by seizure, disturbance of consciousness, development retardation or retrogression and mental retardation, and children with above nervous system symptoms should be timely screened for inherited metabolic disorders for the early diagnosis, proper treatment and improved prognosis.

Key words: inherited metabolic disorder, child, nervous system manifestation