“Target” and “Sandwich” Signs in Thigh Muscles have High Diagnostic Values for Collagen VI-related Myopathies  

作　　者：Jun Fu Yi-Ming Zheng Su-Qin Jin Jun-Fei Yi Xiu-Juan Liu He Lyn Zhao-Xia Wang Wei Zhang Jiang-Xi Xiao Yun Yuan 

机构地区：[1]Department of Neurology, Peking University First Hospital, Beijing 100034, China [2]Department of Radiology, Peking University First Hospital, Beijing 100034, China

出　　处：《Chinese Medical Journal》2016年第15期1811-1816,共6页中华医学杂志（英文版）

摘　　要：Background： Collagen Vl-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy （UCMD） and Bethlem myopathy （BM）. Muscle magnetic resonance imaging （MRI） has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies. Methods： Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study. MRI of the thigh muscles was performed in all patients with collagen VI gene mutation-related myopathies and in 361 patients with other neuromuscular disorders （disease controls）. Tl-weighted images were used to assess fatty infiltration of the muscles using a modified Mercuri＇s scale. We assessed the sensitivity and specificity of the MRI features of collagen Vl-related myopathies. The relationship between fatty infiltration of muscles and specific collagen VI gene mutations was also investigated. Results： Eleven patients with collagen VI gene mutation-related rnyopathies included six UCMD patients and five BM patients. There was no significant difference between UCMD and BM patients in the fatty infiltration of each thigh muscle except sartorius （P = 0.033）： theretbre, we combined the UCMD and BM data. Mean fatty infiltration scores were 3.1 and 3.0 in adductor magnus and gluteus maximus, while the scores were 1.3, 1.3, and 1.5 in gracilis, adductor longus, and sartorius, respectively. A “target” sign in rectus femoris （RF） was present in seven cases, and a “sandwich” sign in vastus lateralis （VL） was present in ten cases. The “target” and “sandwich” signs had sensitivities of 63.6% and 90.9% and specificities of 97.3% and 96,9% for the diagnosis of collagen Vl-related myopathies, respectively. Fatty infiltration scores were 2.0-3.0 in seven patients with mutations in the triple-helical domain, and 1.0-1.5 in three of four patients with mutations in the N- oBackground： Collagen Vl-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy （UCMD） and Bethlem myopathy （BM）. Muscle magnetic resonance imaging （MRI） has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies. Methods： Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study. MRI of the thigh muscles was performed in all patients with collagen VI gene mutation-related myopathies and in 361 patients with other neuromuscular disorders （disease controls）. Tl-weighted images were used to assess fatty infiltration of the muscles using a modified Mercuri＇s scale. We assessed the sensitivity and specificity of the MRI features of collagen Vl-related myopathies. The relationship between fatty infiltration of muscles and specific collagen VI gene mutations was also investigated. Results： Eleven patients with collagen VI gene mutation-related rnyopathies included six UCMD patients and five BM patients. There was no significant difference between UCMD and BM patients in the fatty infiltration of each thigh muscle except sartorius （P = 0.033）： theretbre, we combined the UCMD and BM data. Mean fatty infiltration scores were 3.1 and 3.0 in adductor magnus and gluteus maximus, while the scores were 1.3, 1.3, and 1.5 in gracilis, adductor longus, and sartorius, respectively. A “target” sign in rectus femoris （RF） was present in seven cases, and a “sandwich” sign in vastus lateralis （VL） was present in ten cases. The “target” and “sandwich” signs had sensitivities of 63.6% and 90.9% and specificities of 97.3% and 96,9% for the diagnosis of collagen Vl-related myopathies, respectively. Fatty infiltration scores were 2.0-3.0 in seven patients with mutations in the triple-helical domain, and 1.0-1.5 in three of four patients with mutations in the N- o

关 键 词：Collagen VI-related Myopathies Gene Mutation Muscle Magnetic Resonance Imaging Sensitivity SPECIFICITY 

分 类 号：S858.31[农业科学—临床兽医学] TS59[农业科学—兽医学]