北京大学学报（医学版）2016，Vol.48Issue(5)：846-849,4.DOI:10.3969/j.issn.1671-167X.2016.05.018
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
摘要
Abstract
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 en-thesopathy.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 inci-dental 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 from 4 087 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 exons 49 -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 mus-cles showed mild to severe fatty infiltration changes in T1 weighed sequence with the total scores from 2 to 13.The most severe fatty infiltration changes were in the long head of biceps femoris and adductor mag-nus.Obvious hyperintensities appeared mainly in the adductor longus muscles on slow tau inversion re-covery (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, semitendinosus,sartorius and rectus femoris muscles,could also have mild edema changes in two of the four patients.Conclusion:Dystrophinopathy can manifest as edema changes in the adductor longus mus-cles in thigh muscle MRI tests,which is a typical lesion in adductor enthesopathy.The adductor longus muscles in the dystrophinopathy patients may be easy to be impaired due to traction injury during sports.关键词
抗肌萎缩蛋白病/磁共振成像/内收肌附丽病Key words
Dystrophinopathy/Magnetic resonance imaging/Adductor enthesopathy分类
医药卫生引用本文复制引用
郑艺明,李文竹,王朝霞,张巍,吕鹤,肖江喜,袁云..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[J].北京大学学报（医学版）,2016,48(5):846-849,4.基金项目
“十二五”国家科技重大专项“重大新药创制”（2011ZX09307-001-07）和国家国际科技合作专项项目（2010DFA31070）资助 Sup-ported by the National Major Scientific and Technological Special Project for “Significant New Drugs Development”during the Twelfth Five-year Plan Pe-riod （2011ZX09307-001-07）and International Cooperation Project of the Ministry of Science and Technology of the People’s Republic of China （）
