戊二酸血症I型患者的临床与脑磁共振成像特点  

Cranial magnetic resonance imaging in 6 patients with glutaric aciduria type 1

作　　者：齐朝月[1] 宋金青[2] 肖江喜[1] 谢晟[1] 杨艳玲[2] 张尧[2] 孙芳[2] 秦炯[2] 吴希如[2] 

机构地区：[1]北京大学第一医院医学影像科,北京100034 [2]北京大学第一医院儿科,北京100034

出　　处：《中国医刊》2006年第7期26-29,共4页Chinese Journal of Medicine

基　　金：卫生部医疗机构临床学科重点项目(2001-0912)资助

摘　　要：目的探讨戊二酸血症Ⅰ型患者的脑部磁共振成像（MRI）表现及其诊断价值。方法6例戊二酸血症Ⅰ型患者均经尿有机酸测定、血液酯酰肉碱谱分析确诊，通过磁共振成像了解脑损害特点，结合临床经过及生化特点进行研究。结果6例患者于生后2—8个月发病，因“肌张力异常、智力运动障碍”来院。患者尿液戊二酸、3-羟基戊二酸、血液戊二酰肉碱浓度显著增高。脑MRI显示6例患儿脑基底节区损害，受累的灰质核团呈对称性T1WI低信号，T2WI高信号。5例患儿脑白质病变，其中4例出现在中央区白质，1例左侧顶叶下白质出现斑片状T1WI低信号T2WI高信号。6例患儿中有3例出现额颞部脑萎缩并双侧裂池明显扩大。结论脑深部灰质核团基底节对称性异常信号及中央区白质MRI异常信号是戊二酸Ⅰ型的脑部MRI主要表现。额颞部脑萎缩、双侧侧裂池明显扩大为戊二酸血症Ⅰ型特征性MRI表现。脑MRI是评估戊二酸血症Ⅰ型患者脑损伤的重要手段，明显优于CT。Objective To investigate the characteristics of cranial magnetic resonance image （MRI） of the patients with glutaric aciduria type 1. Method Six patients with glutaric aciduria type 1 were diagnosed with urinary organic acid analysis using gas chromatography-mass spectrometry （GC-MS） and blood acylcamitines assay with tandem mass spectrometry. Their clinical features, laboratory and brain MRI were studied. Results The patients developed progressive dystonia and psychomotor disorders at the age of 2 to 8 months. Remarkable elevations of urinary glutaric acid and 3-hydroxyglutaric acid and blood glutarylcamitine were found in all patients. Their cranial MRI revealed multiple and symmetrical abnormal signal in basal ganglia Frontotemporal atrophy lobes were showed in 3 and white matter. Basal ganglia lesions were found in 6 cases. 5 patients had white matter disease. or hypoplasia, enlarged subarachnoid space in the sylvian fissures and anterior to the temporal cases. Conclusions Cranial MRI is an important modality to evaluate the change of central nervous system in the patients with glutaric aciduria type 1. Multiple and symmetrical abnormal signal intensities in basal ganglia and white matter were the common findings. Frontotemporal atrophy or hypoplasia and enlarged subarachnoid space in the sylvian fissures and anterior to the temporal lobes were characteristic findings in the severely diseased patients.

关 键 词：戊二酸尿症Ⅰ型 气相色谱-质谱联用分析 磁共振成像(MRI) 戊二酸 

分 类 号：R445.2[医药卫生—影像医学与核医学]