CAJ | 학술논문

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。
목적：탐토무이산뇨증I형환자적림상표현급뇌부MRI특정。방법회고성분석8례경뇨기상색보-질보련용방법학진적무이산뇨증I형환자적림상여영상자료，총결기림상표현여뇌부MRI특정。결과8례중남6례，녀2례，소유환자뇨액무이산、3-간기무이산배설량균명현초출정상범위。주요림상표현위지력발육감퇴화운동장애。뇌부MRI현시8례환인균출현액섭협뇌위축、외측렬지증관이급쌍측기저절구대칭성장T1장T2이상신호，5례중앙뇌백질출현장T1장T2이상신호，4례출현경막하적액혹적혈，1례대뇌각대칭성장T1장T2이상신호。결론무이산뇨증I형환자적림상표현무특이성，기뇌부MRI교구특정성표현，주요표현위기저절구、중앙백질구대칭성수루，액섭협뇌위축，외측렬지증관，MRI대기진단구유중요개치。
Objective To investigate the clinical manifestations and brain MRI 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 MRI wer studied. Results Remarkable elevations of urinary gulutaric acid and 3-hydroxyglutaric acid were found in all patients.The main symptoms included cognitive abnormalities and dyskinesis. The brain MRI revealed frontotemporal atrophy,enlarged sylvian fissures and basal ganglia lesions in all cases and the basal ganglia lesions carried hypointense on T1WI and hyperintense on T2WI,5 patients had white matter disease, 4 patients had subdural fluid or hematocele,the caudex encephali carried hypointense on T1WI and hyperintense on T2WI in 1 patient. Conclusions The clinical manifestations of glutaric aciduria type I patients were no specificity,but there were characteristic findings in MRI. The common findings including symmetrical abnormal signal in basal ganglia and white matter,frontotemporal atrophy and enlarged sylvian fissures,it is very helpful for the diagnosis of glutaric aciduria type I.