常见有机酸血症患者的脑磁共振表现及临床特点分析

Brain magnetic resonance imaging and clinical characteristics of patients with common organic academia

目的探讨常见有机酸血症患者的脑部磁共振表现及其临床特点,旨在提高对该类疾病的认识。方法选取我院2008年1月~2015年12月确诊的70例常见有机酸血症患者的临床及影像资料,并根据生化特点、是否治疗进行分组,比较各组间的颅脑MRI表现差异。结果70例中男性40例,女性30例,其中甲基丙二酸血症合并同型半胱氨酸血症(methylmalonic aciduria and homocystinuria,MMA-HC)45例,单纯型甲基丙二酸血症(methylmalonic aciduria,MMA)15例,丙酸血症(propionic acidemia,PA)10例。确诊年龄范围为7天~7岁,平均年龄(5.8±12.6)月。主要临床表现为嗜睡、呕吐、喂养困难、肌力低下。45例MMA-HC中,主要影像表现为双侧侧脑室扩大(29例),胼胝体纤细或信号异常(8例),幕上脑白质水肿(7例);单纯型MMA15例,主要影像表现为双侧侧脑室扩大(12例)和基底节区信号异常(8例);10例PA,双侧侧脑室轻度扩大(9例),髓鞘化延迟(3例)。未治疗组异常影像表现较治疗组增多;45例MMA-HC患者中,脑室正常(16例)、轻度扩大(19例)、重度扩大(10例),3组间同型半胱氨酸(homocystine,Hcy)值比较差异有统计学意义(F=42.76,P<0.05),且Hcy值与脑室扩张程度之间有明显相关性(r=0.690,P<0.05)。结论常见有机酸血症患儿临床及MRI表现缺乏特异性,主要表现为脑室扩张、基底节信号异常、胼胝体纤细等。MMA-HC组患者中,脑室扩张程度与Hcy值呈正相关。

Objective To investigate the characteristics of brain magnetic resonance image and clinic of the patients with organic academia.Methods The clinical and imaging data of 70 patients with common organic acidemia diagnosed in our hospital from 2008 to 2015 were retrospectively analyzed.The differences in brain MRI images between groups were compared according to biochemical characteristics and treatment.Results There were 40 males and 30 females,including 45 cases of Methylmalonic aciduria and Homocystinuria(MMA-HC),15 cases of simple Methylmalonic Aciduria(MMA),and 10 cases of Propionic Acidemia(PA).The age of diagnosis was 7 days to 7 years,with an average age of(5.8±12.6)months.The main clinical manifestations were lethargy,vomiting,feeding difficulties,and low muscle strength.Among the 45 cases of MMA-HC,the main images were bilateral lateral ventricle enlargement(29 cases),corpus callosum or abnormal signal(8 cases),supratentorial white matter edema(7 cases),simple MMA(15 cases).The main image showed Bilateral lateral ventricle enlargement(12 cases)and basal ganglia signal abnormalities(8 cases),PA(10 cases),bilateral lateral ventricle slightly enlarged(9 cases),delayed myelination(3 cases).The abnormal imaging performance of the untreated group was higher than that of the treatment group;in 45 patients with MMA-HC,the ventricle was normal(16),slightly enlarged(19),severely enlarged(10),and Homocysteine(Hcy)between the three groups was statistically significant(F=42.76,P<0.05),and there was a significant correlation between Hcy values and degree of ventricular dilatation(r=0.690,P<0.05).Conclusion The clinical and imaging manifestations of organic acidemia lack of specificity.The ventricular dilatation,basal ganglia signal abnormalities,corpus callosum thining are the main MRI features.In the MMA-HC group,the degree of ventricular dilatation is positively correlated with Hcy values.