类似内收肌附丽病的抗肌萎缩蛋白病骨骼肌磁共振成像特点  

Magnetic resonance imaging of dystrophinopathy that mimics adductor enthesopathy

作　　者：郑艺明[1] 李文竹[1] 王朝霞[1] 张巍[1] 吕鹤[1] 肖江喜[2] 袁云[1] 

机构地区：[1]北京大学第一医院神经内科,北京100034 [2]北京大学第一医院医学影像科,北京100034

出　　处：《北京大学学报（医学版）》2016年第5期846-849,共4页Journal of Peking University:Health Sciences

基　　金："十二五"国家科技重大专项"重大新药创制"(2011ZX09307-001-07);国家国际科技合作专项项目(2010DFA31070)资助~~

摘　　要：目的：报道4例类似内收肌附丽病的抗肌萎缩蛋白病的下肢骨骼肌磁共振成像特点。方法：4例来自不同家系,年龄为5到11岁的男孩,临床表现为肌痛或者肢体力弱或者发现肌酸激酶升高,经基因检查确诊为抗肌萎缩蛋白病。4例患者血清肌酸激酶为4 087~32 700 IU/L（正常值75~175 IU/L）,其中3例患者接受骨骼肌活检,提示肌营养不良样病理改变,伴不同程度的肌纤维膜抗肌萎缩蛋白缺失。基因检查结果示4例患者均存在抗肌萎缩蛋白基因（Duchenne muscular dystrophy,DMD）致病突变,其中3例为框外突变,分别为45号外显子缺失、49-52外显子缺失、以及62号外显子重复突变,另外1例为c.2665C〉T致无义突变。对所有患者进行双侧大腿骨骼肌磁共振成像检查并评分。结果：4例患者双侧大腿骨骼肌磁共振成像检查结果,T1加权像示大腿骨骼肌脂肪化改变轻重不等（2分至13分）,主要受累肌肉为大收肌及股二头肌长头;短反转时间反转恢复序列（short time inversion recovery,STIR）示所有患者大腿长收肌均出现显著高信号改变,提示存在明显水肿,该影像学表现类似内收肌附丽病。有两例患者为双侧长收肌均受累,另两例为单侧受累。此外,其中两例患者还出现其他肌肉水肿改变,包括大收肌、半腱肌、缝匠肌以及股直肌等。所有患者韧带附着处均未见异常改变。结论：抗肌萎缩蛋白病患者大腿骨骼肌磁共振成像可以表现为类似内收肌附丽病患者长收肌水肿改变,提示抗肌萎缩蛋白病患者长收肌可能容易出现运动拉伤。Objective： To report thigh muscle magnetic resonance imaging（ MRI） tests of four Chinese patients with dystrophinopathy with edema changes in adductor longus muscles that mimics adductor enthesopathy. Methods： Four boys,who were from four unrelated families and aged from 5 to 11 years,were investigated because of the clinical manifestations including myalgia or muscle weakness or the incidental findings of elevated serum creatine kinase levels,and were diagnosed with dystrophinopathy by gene test of Duchenne muscular dystrophy（ DMD）. Their creatine kinase levels were increased from4 087 IU / L to 32 700 IU / L（ Normal range： 75- 175 IU / L）. The muscle biopsy of three patients all demonstrated a dystrophic pattern including necrosis,regeneration,hypertrophy,atrophy and connective tissue proliferation,with different proportions of dystrophin-negative muscle fibers. The gene test of DMD showed an out-frame deletion of exons in three of the four patients,involving either exons 45 or exons49- 52 deletion or exon 62 duplication,and c. 2665 C T with nonsense mutation in the other one.Muscle MRI tests of the bilateral thighs were performed with T1 weighed sequence and slow tau inversion recovery sequence. The degree of fatty infiltration changes was scored. Results： MRI of the thigh muscles showed mild to severe fatty infiltration changes in T1 weighed sequence with the total scores from 2 to13. The most severe fatty infiltration changes were in the long head of biceps femoris and adductor magnus. Obvious hyperintensities appeared mainly in the adductor longus muscles on slow tau inversion recovery（ STIR） images in all the patients without any abnormal signals in the attachment of the ligament,indicating edema changes of the adductor longus muscles which mimiced adductor enthesopathy. Two of the four patients presented with edema changes in the bilateral adductor longus muscles,while the other two were with only unilateral changes. Furthermore,other thigh muscles,including adductor magnus,semiten

关 键 词：抗肌萎缩蛋白病 磁共振成像 内收肌附丽病 

分 类 号：R685.4[医药卫生—骨科学]