甲基丙二酸血症的颅脑MRI影像特征及与临床表现的对照分析  

Comparative analysis of clinical and brain MRI features in methylmalonic acidemia

作　　者：卓梦圆 运岩 张晨 辛家祥 陈昱帆 赵阳 徐长媛 王光彬 Zhuo Mengyuan;Yun Yan;Zhang Chen;Xin Jiaxiang;Chen Yufan;Zhao Yang;Xu Changyuan;Wang Guangbin(Cheeloo College of Medicine,Shandong University,Jinan 250012,China;Department of Radiology,Qilu Hospital of Shandong University,Jinan 250012,China;Department of Pediatrics,Qilu Hospital of Shandong University,Jinan 250012,China;MR Research Collaboration Team,Siemens Healthineers Ltd,Shanghai 200126,China;Department of Radiology,Shandong Provincial Hospital Affiliated to Shandong First Medical University,Jinan 250021,China;Department of Medical Imaging Center,Central Hospital Affiliated to Shandong First Medical University,Jinan 250013,China)

机构地区：[1]山东大学齐鲁医学院,济南250012 [2]山东大学齐鲁医院放射科,济南250012 [3]山东大学齐鲁医院儿科,济南250012 [4]西门子医疗有限公司科研合作部,上海200126 [5]山东第一医科大学附属省立医院医学影像科,济南250021 [6]山东第一医科大学附属中心医院医学影像科,济南250013

出　　处：《中华放射学杂志》2025年第4期418-424,共7页Chinese Journal of Radiology

基　　金：山东省自然科学基金(ZR2023MH173);国家自然科学基金(82201624);山东省青年科技人才托举工程(SDAST2024QT027);济南市临床医学研究中心(201912004)。

摘　　要：目的探讨甲基丙二酸血症(MMA)的颅脑MRI影像特征。方法该研究为观察性研究。回顾性分析2010年1月至2022年11月在山东第一医科大学附属省立医院及山东大学齐鲁医院确诊的123例MMA患者的临床及影像学资料。123例患者按照发病年龄划分为7个阶段,新生儿期(0~<1个月)、婴儿期(1个月~<1岁)、幼儿期(1~<4岁)、学龄前期(4~<7岁)、学龄期(7~<13岁)、青春期(13~17岁)及成人期(>17岁)。所有患者均接受颅脑MRI平扫,评估其影像表现,包括病灶的数目、位置、形态等。结果123例患者中,新生儿期40例、婴儿期29例、幼儿期13例、学龄前期9例、学龄期6例、青春期13例、成人期13例。新生儿期患者的首发症状以消化系统异常为主,如哺乳困难(37.5%,15/40)和呕吐(25.0%,10/40),从婴儿期开始,神经系统症状逐渐成为主要表现。73例(59.3%)颅脑MRI表现明显异常,其中新生儿期17例共33个病灶、婴儿期23例共53个病灶、幼儿期11例共16个病灶、学龄前期2例共2个病灶、学龄期3例共7个病灶、青春期7例共9个病灶、成人期10例共16个病灶。新生儿期主要表现为髓鞘发育不良(18%,6/33)、侧脑室系统扩张(18%,6/33)及苍白球梗死灶(18%,6/33);婴儿期主要表现为胼胝体发育不良或变薄(30%,16/53);幼儿期主要表现为苍白球梗死灶(38%,6/16);学龄前期2个MRI异常病灶分别为苍白球、丘脑梗死灶;学龄期主要表现为壳核梗死灶(29%,2/7)及尾状核梗死灶(29%,2/7);青春期主要表现为侧脑室系统扩张(33%,3/9);成人期主要表现为侧脑室系统扩张(19%,3/16)。结论MMA患者的颅脑MRI表现随年龄不同呈现出显著差异,提示MMA对不同发育阶段的脑结构损伤存在动态性。ObjectiveTo explore brain MRI features of methylmalonic acidemia(MMA).MethodsThis observational study retrospectively analyzed the clinical and imaging data of 123 patients with MMA diagnosed at Shandong Provincial Hospital Affiliated to Shandong First Medical University and Qilu Hospital of Shandong University from January 2010 to November 2022.The 123 patients were divided into 7 stages according to age of onset,neonatal period(0 to<1 month),infancy(1 month to<1 year),early childhood(1 to<4 years),preschool(4 to<7 years),school age(7 to<13 years),adolescent(13 to 17 years)and adult(>17 years).All patients underwent brain MRI scanning.The imaging performances were evaluated,including the number,location,morphology of the lesions.ResultsOf the 123 patients,40 were in the neonatal period,29 in infancy,13 in early childhood,9 in preschool,6 in school age,13 in adolescence,and 13 in adulthood.The first symptoms of patients in the neonatal period were mainly digestive system abnormalities,such as difficulty in breastfeeding(37.5%,15/40)and vomiting(25.0%,10/40),with neurological symptoms gradually becoming the main manifestations from infancy.Seventy-three cases(59.3%)showed significant abnormalities on cranial MRI,including 17 cases with 33 foci in the neonatal period,23 cases with 53 foci in infancy,11 cases with 16 foci in early childhood,2 cases with 2 foci in preschool,3 cases with 7 foci in school age,7 cases with 9 foci in adolescence,and 10 cases with 16 foci in adulthood.In neonatal period,the main manifestations were myelin dysplasia(18%,6/33),dilatation of the lateral ventricular system(18%,6/33),and pallidal bulb infarct foci(18%,6/33);in infancy,the main manifestations were hypoplasia or thinning of the corpus callosum(30%,16/53);in early childhood,the main manifestations were pallidal bulb infarct foci(38%,6/16);and the two MRI abnormalities in preschool were pallidum and thalamic infarct foci;in school age,the main manifestations were infarct foci in the chiasmatic nucleus(29%,2/7)and in the caudate nu

关 键 词：磁共振成像 甲基丙二酸血症 神经影像 

分 类 号：R742[医药卫生—神经病学与精神病学]