戊二酸尿症I型患者的临床与脑部MRI特征  

Clinical Manifestations and Brain MRI Characteristics of Glutaric Aciduria Type I

作　　者：李志勇[1] 干芸根[1] 方佃刚[1] 林飞飞[1] 周洋洋[1] 谢娜[1] 曾伟彬[1] 徐守军[1] 李玲琼[1] 

机构地区：[1]深圳市儿童医院放射科,广东深圳518026

出　　处：《中国CT和MRI杂志》2014年第2期22-24,共3页Chinese Journal of CT and MRI

摘　　要：目的探讨戊二酸尿症I型患者的临床表现及脑部MRI特征。方法回顾性分析8例经尿气相色谱-质谱联用方法确诊的戊二酸尿症I型患者的临床与影像资料,总结其临床表现与脑部MRI特征。结果 8例中男6例,女2例,所有患者尿液戊二酸、3-羟基戊二酸排泄量均明显超出正常范围。主要临床表现为智力发育减退和运动障碍。脑部MRI显示8例患儿均出现额颞叶脑萎缩、外侧裂池增宽以及双侧基底节区对称性长T1长T2异常信号,5例中央脑白质出现长T1长T2异常信号,4例出现硬膜下积液或积血,1例大脑脚对称性长T1长T2异常信号。结论戊二酸尿症I型患者的临床表现无特异性,其脑部MRI较具特征性表现,主要表现为基底节区、中央白质区对称性受累,额颞叶脑萎缩,外侧裂池增宽,MRI对其诊断具有重要价值。Objective To investigate the clinical manifestations and brain MlkI characteristics of glutaric aciduria type Ⅰ. Methods A retrospective analysis was performed eight patients with glutaric aciduria type Ⅰ wich were definited by urease pretreatment- gas chromatography（GC-MS）, their clinical manifestations and brain MILl wet studied. Results Remarkable elevations of urinary gnlutaric acid and 3-hydro.xyglutaric acid were found in all patients.The main symptoms included cognitive abnormalities and dyskinesis. The brain MILl revealed frontotemporal atrophy, enlarged sylvian fissures and basal ganglia lesions in all cases and the basal ganglia lesions carried hypointense on TtWI and hyperintense on T2WI,5 patients had white matter disease, 4 patients had subdural fluid or hematocele,the caudex encephali carried hypointense on TIWI and hyperintense on T2WI in I patient.Condlusion The clinical manifestations of glutaric aciduria Wpe I patients were no specificity,but there were characteristic findings in MRI. The conmlon findings including synmletrical abnomlal signal in basal ganglia and white matter,frontotemporal atrophy and enlarged sylvian fissures,it is very helpful for the diagnosis ofglutaric aciduria type Ⅰ.

关 键 词：戊二酸尿症I型 脑部磁共振成像 

分 类 号：R589.9[医药卫生—内分泌] R445.2[医药卫生—内科学]