Dysferlin肌病下肢肌群MRI特点分析  

Skeletal muscle MRI of lower limbs in patients with Dysferlinopathy

作　　者：李劲[1] 褚梅花[2] 朱雯华[3] 罗苏珊[3] 赵重波[3] 卢家红[3] 梁宗辉[1] 奚剑英[3] 

机构地区：[1]复旦大学附属华山医院放射科,上海200040 [2]复旦大学附属华山医院静安分院 [3]复旦大学附属华山医院神经内科,上海200040

出　　处：《中华放射学杂志》2015年第7期525-530,共6页Chinese Journal of Radiology

摘　　要：目的探讨中国Dysferlin肌病及不同临床亚型的下肢肌群MRI特点。方法回顾性收集42例经免疫印迹或DYSF基因确诊的Dysferlin肌病患者资料，包括性别、发病年龄、病程、肌酸激酶（CK）、改良Gardner-Medwin和Walton（GM—W）评分以及MRI T1WI及短时间反转恢复（STIR）序列图像。按照Mercuri脂肪替代评分标准对各肌肉评分。按临床亚型分为Miyoshi肌病（MM）、肢带型肌营养不良2B型（LGMD2B）及临床症状前期（2例无症状高肌酸激酶血症及2例运动不耐受患者）。采用方差分析和卡方检验比较MM和LGMD2B组上述指标及肌肉脂肪替代评分的差异，Spearman等级相关法分析脂肪化评分与病程及GM—W的相关性。结果本组患者39例行大腿MRI扫描，36例行小腿MRI扫描。在大腿层面，Dysferlin肌病的MRI脂肪化缺乏特异性，前后组肌群均可受累，而股直肌、缝匠肌及股薄肌受累相对较轻；在小腿层面，受累最明显的为比目鱼肌，其次为腓肠肌，形成前组（胫前肌、胫后肌以及腓长肌）肌群和后组（腓内、外肌）肌群受累轻而中间的比目鱼肌受累重的“三明治”样结构。4例临床症状前期患者中3例STIR提示小腿后群肌水肿，以比目鱼肌最明显。38例有症状患者中14例为MM，24例为LGMD2B。除内收肌（F=5．239，P=0．028）、半膜肌（F=6．703，P=0．014）、半腱肌（F=7．689，P=0．009）外，MM组和LGMD2B组的肌群脂肪化评分差异均没有统计学意义（F=0．066～3．907，P均〉0．05）。4例临床症状前期患者中，3例STIR提示小腿后群肌水肿，以比目鱼肌最明显。42例患者下肢肌脂肪化评分与病程（rs=0．732，P=0．000）及GM—W评分（rs=0．485，P=0．001）呈正相关。结论中国Dysferlin肌病MRI大腿层面股直肌、缝匠肌及股薄肌受累较轻；小腿层面呈特征性的“三明治”样改变。Dysferlin肌病肌肉受累模式MRI特征有助与炎性�Objective To investigate muscle MRI characteristics of lower limbs in Chinese patients with dysferlinopathy. Methods Detailed clinical information of 42 patients with dysferlinopathy confirmed by Western blot or DYSF genetic test were studied retrospectively, including age, course, serum creatinine kinase （CK） and modified Gardner-Medwin and Walto score, and T1WI, STIR image. Each muscle was scored according to its fatty degeneration evaluated on T^WI （fat replacement score）. The patients were divided into 3 groups： Miyoshi myopathy （MM）, limb girdle muscle dystrophy 2B （LGMD 2B） and preclinical stage （asymptomatic hyperCKemia or exercise intolerance）. The data including the scores of each muscle between MM and LGMD 2B were compared by ANOVA analysis and Chi square test. The relationship of fatty replacement score with course and GM- W score was analyzed by Spearman rank correlation analysis. Results Thirty nine patients underwent thigh MR scanning and 36 patients underwent leg MR scanning. At the thigh level, there is no specificity that the fatty replacement was found in both the anterior and posterior parts while the rectus femoris, sartorius and gracilis were rarely involved. At the leg level, the most severely involved muscle was the soleus, followed by gastrocnemius. It formed a sandwich-like pattern that the anterior part （anterior and posterior tibial muscle and peroneus longus muscle） and the posterior part （medial and lateral gastrocnemius） were less involved than the middle part （soleus）. Of 42 patients, 14 cases were MM, and 24 were LGMD 2B. The fat replacement score of each muscle between two groups showed no significant differences （F=0.066 to 3.907,P all〉0.05） except for the adductor muscle （F=5.239, P=0.028）, semimembranosus （F=6.703, P=0.014） and semitendinosus （F=7.689, P=0.009）. Of 4 presymptomatic cases, 3 showed edema of posterior part of leg on STIR, especially soleus. In all patients, the fat replacement score correlated positively with co

关 键 词：肌疾病 磁共振成像 Dysferlin肌病 

分 类 号：R445.2[医药卫生—影像医学与核医学] R685[医药卫生—诊断学]