Zheng Y M, Li W Z, Wang Z X, Zhang W, Lv H, Xiao J X, Yuan Y
Department of Neurology, Peking University First Hospital, Beijing 100034, China.
Department of Radiology, Peking University First Hospital, Beijing 100034, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2016 Oct 18;48(5):846-849.
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.
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 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.
MRI of the thigh muscles 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 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, semitendinosus, sartorius and rectus femoris muscles, could also have mild edema changes in two of the four patients.
Dystrophinopathy can manifest as edema changes in the adductor longus muscles 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.
报告4例患有肌营养不良症的中国患者的大腿肌肉磁共振成像（MRI）检查结果，这些患者内收长肌出现水肿变化，类似内收肌附着点病。
对来自4个无血缘关系家庭、年龄在5至11岁的4名男孩进行调查，他们因出现肌痛或肌肉无力等临床表现或血清肌酸激酶水平升高的偶然发现而接受检查，并通过杜兴氏肌营养不良症（DMD）基因检测被诊断为肌营养不良症。他们的肌酸激酶水平从4087 IU/L升至32700 IU/L（正常范围：75 - 175 IU/L）。3例患者的肌肉活检均显示为营养不良模式，包括坏死、再生、肥大、萎缩和结缔组织增生，肌营养不良蛋白阴性肌纤维比例各异。DMD基因检测显示，4例患者中有3例存在外显子框外缺失，涉及外显子45或外显子49 - 52缺失或外显子62重复，另一例存在c.2665 C>T无义突变。对双侧大腿进行肌肉MRI检查，采用T1加权序列和慢速反转恢复序列。对脂肪浸润变化程度进行评分。
大腿肌肉MRI在T1加权序列上显示轻度至重度脂肪浸润变化，总分2至13分。脂肪浸润变化最严重的部位是股二头肌长头和大收肌。所有患者在慢速反转恢复（STIR）图像上，内收长肌主要出现明显高信号，韧带附着处无任何异常信号，表明内收长肌出现水肿变化，类似内收肌附着点病。4例患者中有2例双侧内收长肌出现水肿变化，另外2例仅为单侧变化。此外，4例患者中有2例的其他大腿肌肉，包括大收肌、半腱肌、缝匠肌和股直肌，也可能出现轻度水肿变化。
在大腿肌肉MRI检查中，肌营养不良症可表现为内收长肌水肿变化，这是内收肌附着点病的典型病变。肌营养不良症患者的内收长肌在运动过程中可能因牵拉损伤而易于受损。
