儿童基底节对称性病变28例临床分析

Clinical analysis of symmetrical pathological changes involving bilateral basal ganglia in 28 children.

目的探讨和分析儿童基底节区对称性病变的发病机制、临床特点和预后。方法2003年3月至2008年4月我院收治具有脑损害表现、同期CT／MRI扫描示双侧基底节区对称性低密度和（或）MRI T1WI呈对称性低信号、T2WI呈高信号患儿共28例，对其临床资料进行回顾性分析和总结。结果甲基丙二酸血症3例、α-酮戊二酸尿症2例、高乳酸血症1例，患儿首发症状为发热、咳嗽和（或）呕吐、腹泻，并迅速进展为抽搐、昏迷，伴酸中毒、血乳酸和丙酮酸增高；7月龄高乳酸血症1例，患儿运动发育落后、喂养困难、反复惊厥发作；VitB1缺乏性脑病1例，患儿单纯母乳喂养、哭声嘶哑、肌无力、抽搐、VitB1肌注后症状改善明显；肝豆状核变性18例，患儿肌张力增高、震颤、流涎、共济失凋、吐字不清、记忆力下降，其中13例伴有肝脏肿大，10例脾脏肿大，肝硬化和脾功能亢进各2例；霉甘蔗中毒和煤气中毒各1例，患儿认知和运动功能障碍恢复缓慢。结论儿童基底节区对称性病变病因复杂、症状多样，结合病史、临床特点和影像学特征、实验室检查包括代埘病筛查，可早期明确病因并及时合理治疗，有助于改善预后。

Objective To explore and analyze the pathogenesis, clinical characteristics and prognosis of symmetrical pathological changes involving bilateral basal ganglia in children. Methods Analyzing retrospectively clinical data of 28 inpatients with the performance of brain damage and symmetrical low-density lesions on plain CT scans and/or low-signal on MRI T1 weighted imaging, high-signal on MRI T2 weighted imaging involving bilateral basal ganglia. Results Six patients first had fever, cough and （or） vomiting,diarrhea and subsequently progressed rapidly to convulsions, coma and also had marked acidosis, increased blood lactate and pymvate levels, in which three cases were diagnosed as methylmalonic acidaemia, two were diagnosed as α-keto-glutaric aciduria, one was diagnosed as lactic academia;One 7-month-old infant with delayed motor development, feeding difficulties and repeated seizure was diagnosed as lactic academia;One simple breast-feeding patient with cerebral vitamine B1 deficiency had hoarse cry, muscular weakness, convulsion and good effect to vitamine B 1 intramuscular injection;Eighteen cases with hepatolenticular degeneration had muscular hypertonia,tremor, salivation, ataxia, speech unclear and memory decline, in which 13 cases were accompanied by hepatomegaly, 10 cases were accompanied by splenomegaly,two cases were accompanied by liver cirrhosis and two cases were accompanied by hypersplenism;One case with moldy sugarcane poisoning and one case with carbon monoxide-induced toxic encephopathy had cognitive and motor dysfunction which recovered slowly. Conclusion Many causes can lead to symmetrical pathological changes involving bilateral basal ganglia with diverse symptoms in children. The diseases should be diagnosed early by illness history, clinical features, imaging study and laboratory tests including the screening for metabolic disorders, which can help treat them effectively and improve the prognosis.