儿童神经元蜡样质脂褐素沉积病的MRI及MRS表现  

Manifestations of MR Imaging and Proton MR Spectroscopy of Neuronal Ceroid Lipofuscinosis in Children

作　　者：任爱军[1] 黄敏华[1] 郭勇[1] 林伟[1] 

机构地区：[1]海军总医院医学影像科,北京100048

出　　处：《放射学实践》2010年第1期14-18,共5页Radiologic Practice

摘　　要：目的:分析婴儿型和晚期婴儿型神经元蜡样质脂褐素沉积病(NCL)的MRI、磁共振波谱(1H-MRS)表现。方法:对2例婴儿型和8例晚期婴儿型NCL患儿行磁共振平扫和磁共振波谱检查。总结分析各种特征性影像表现及N-乙酰天门冬氨酸(NAA)、总肌酸(Cr)、胆碱复合物(Cho)、NAA/Cr、Cho/Cr比值的变化规律。结果:10例患儿都表现为逐渐进展的脑萎缩,婴儿型以大脑萎缩为早期表现,晚期婴儿型以小脑萎缩为早期表现。2例婴儿型病例及病史4～5年的晚期婴儿型患儿可见大脑半球白质的异常高信号,脑室旁白质最为明显。婴儿型病例见双侧丘脑和基底节核团T2WI低信号。8例发现颅骨板障明显增厚。磁共振波谱显示随着病程延长,晚期婴儿型病例的NAA/Cr比值逐渐降低,Cho/Cr值未见明显变化。婴儿型病例未观测到NAA峰,Cho/Cr水平降低,肌醇(mi)水平明显增高。结论:MRI和1H-MRS可以敏感地发现婴儿型和晚期婴儿型患儿脑内的异常改变,有助于NCL的诊断和分型,并可以评价疾病的严重程度,监测病情变化。Objective：To analyze the MR imaging and spectroscopic manifestations of infantile and late infantile neuronal ceroid lipofuscinosis （INCL, LINCL） in children. Methods： Two patients with INCL and eight patients with LINCL were examined by MR imaging and proton MR spectroscopy （MRS）,the normalized peak integral values of N-acetylaspartate （NAA）,choline （Cho）, creatine （Cr）, the ratios of NAA/Cr, Cho/Cr were calculated. Results：Progressive brain atrophy was assessed on MRI in all these 10 patients. The early manifestations in INCL were cerebral atrophy and that of LINCL were cerebellum atrophy. Abnormal hyperintensities in white matter, especially periventricular white matter could be assessed in patients with INCL and LINCL with history Of 4~5 years. Hypointensities in thalamus and basal ganglia were detected only in INCL patients. Cranial diploetic thickening was seen in 8 patients. Progressive reduction of NAA and no significant change of Cho/Cr were showed on MRS in LINCL patients following the lengthening of the course of disease. No reduction of Cho/Cr was detected,NAA was not detectable, and the level of myo-inositol （mi） was markedly increased in INCL patients. Conclusion： Abnormal manifestations of brain in INCL and LINCL patients could be sensitively detected on MR imaging in combination with proton MR spectroscopy, which is helpful in the diagnosis and classification, as well as to evaluate its seriousness and to monitor the progression of the disease.

关 键 词：神经元蜡样质脂褐素沉积病 磁共振成像 磁共振波谱 

分 类 号：R748[医药卫生—神经病学与精神病学] R445.2[医药卫生—临床医学]