摘要
目的:探讨甲基丙二酸尿症及丙酸尿症的颅脑MRI表现。方法:对16例甲基丙二酸尿症和丙酸尿症的婴幼患儿的临床资料及颅脑MRI进行分析总结。结果:16例中男10例,女6例,发病年龄为出生后～2岁。治疗前行头颅MRI检查8例,表现为脑萎缩5例,其中3例伴脑白质减少,另2例伴双侧基底节信号异常,表现为T1FLAIR稍低、T2FLAIR高信号、DWI高信号;头颅CT检查1例,表现为交通性脑积水。通过治疗后随访MRI7例,表现为MRI和DWI阴性1例,双侧基底节持续T1FLAIR稍低、T2FLAIR高信号、DWI稍高信号1例,内囊前后肢及脑干T1FLAIR低信号1例;余4例中,MRI表现好转2例,呈进行性改变2例。结论:甲基丙二酸尿症和丙酸尿症的MRI表现缺乏特异性,主要为不同程度的脑萎缩、髓鞘化延迟和基底节的异常信号,特别是苍白球。MRI的异常改变可通过合理治疗而有所改善,然而长期的异常影像学改变则预示着神经系统呈不可逆的、进行性的损害。
Objective： To study MRI of the brain in methylmalonic aciduria （MMA） and propionic aciduria （PA）. Methods：The clinical data and the brain MRI findings of 16 young patients with MMA or PA were analyzed and summarized. Results： The patients consisted of 10 males and 6 females with their age ranging from birth to 2 years. Before treatment,there were 8 patients who obtained the examination of brain MRI. The MRI showed cerebral atrophy （5 eases, 3 of which accompanying with reduction in the white matter,and the remaining 2 cases accompanying with symmetrical low signal on T1 FLAIR, showing high signal on T2 FLAIR and DWI in the basal ganglia）. There was 1 patient who obtained the brain CT showing communicating hydrocephalus. During the period of follow-up after treatment, MRI was performed in 7 patients,showing normal signal on MRI and DWI （1 case）;persistent symmetrical low signal on T1 FLAIR, high signal on T2 FLAIR and DWI in the basal ganglia （1 case） ;low signal on T1 FLAIR in bilateral anterior and posterior limb of internal capsule and in brain stem （1 case）,and in the remaining 4 cases,the MRI findings became better （2 cases） or worse （2 cases）. Conclusion： MRI was short of specificity in MMA and PA. The main findings were different degrees of cerebral atrophy,delayed myelinization and abnormalities within the basal ganglia, particularly the globus pallidus. The abnormal MRI findings could get improved as a result of proper therapy,but the long-term abnormal findings predicted that the damages of the central nervous system were irreversible and progressive.
出处
《放射学实践》
2008年第6期595-597,共3页
Radiologic Practice
关键词
甲基丙二酸尿症
丙酸尿症
磁共振成像
Methylmalonic aciduria
Propionic aciduria
Magnetic resonance imaging
