儿童基底节病变17例临床分析

目的总结儿童基底节病变的临床特征。方法对17例经头颅CT和/或MRI证实的存在基底节病变的患儿临床资料进行分析。结果17例中起病时分别为肢体活动障碍7例,手震颤2例,惊厥5例,智力运动落后3例。所有患儿影像学检查均存在基底节区病变。17例患儿诊断分别为特发性甲状旁腺功能低下1例,线粒体脑肌病4例(1例具体诊断为Leigh病),Hyalinebody肌病1例,Aicardi-Goutieres综合征1例,偏侧惊厥-偏瘫综合征1例,脑肿瘤1例,风湿性舞蹈病2例,特发性基底节钙化4例,2例未做出具体诊断。结论基底节病变是影像学上的一个征象,涉及的疾病种类很多,对其病因进行探讨,将有助于提高对本组疾病的诊断。

Clinical analysis of 17 children with pathological changes of basal ganglia

Objective To summarize the clinical characteristics of pathological changes of basal ganglia in children. Methods The clinical data of 17 children with pathological changes of basal ganglia confirmed by cranial CT and/or MRI were analyzed retrospectively. Results In all 17 cases,the initial symptom was limb movement disorder in 7 cases,hands tremor in 2 cases,seizure in 5 cases,and mental and motor retardation in 3 cases,respectively. The further etiologic diagnoses for 17 cases were 1 case as idiopathic hypoparathyroidism,4 cases as mitochondrial encephalomyopathy (1 case was further diagnosed as Leigh syndrome),1 case as hyaline body myopathy,1 case as Aicardi- Goutieres syndrome,1 case as hemiconvulsion-hemiplegia syndrome,1 case as brain tumor,2 cases as rheumatic chorea,3 cases as idiopathic basal ganglia calcification and 2 cases without explicit diagnosis,respectively. Conclusion Pathological change of basal ganglia is a radiological sign which involved a variety of diseases. Discovery of its etiology will be helpful to identify this group of diseases.