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患有贝克肌肉营养不良症的兄弟在骨骼肌计算机断层扫描结果上表现出不一致:一例报告。

Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report.

作者信息

Nambu Yoshinori, Shirakawa Taku, Osawa Kayo, Nishio Hisahide, Nozu Kandai, Matsuo Masafumi, Awano Hiroyuki

机构信息

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

Faculty of Health Sciences, Department of Medical Technology, Kobe Tokiwa University, Kobe, Japan.

出版信息

SAGE Open Med Case Rep. 2024 Jan 3;12:2050313X231221436. doi: 10.1177/2050313X231221436. eCollection 2024.

Abstract

Becker muscular dystrophy is caused by mutations and is characterized by progressive muscle atrophy. The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in mutations and environmental factors. In this case, two brothers, aged 2 and 3 years, had the identical mutation, confirming their Becker muscular dystrophy diagnosis. They began using handrails when ascending and descending stairs at the age of 16 due to progressive muscular weakness. Over an 18-year follow-up, the older brother consistently had high serum creatine kinase levels, significantly over median levels. Muscle computed tomography finings revealed that the older brother's gluteus maximus and vastus femoris cross-sectional areas were only half and one-third of the younger brother's, respectively. The mean computed tomography values of gluteus maximus and vastus femoris were significantly lower in the older brother. Our report suggests that muscle atrophy in Becker muscular dystrophy cannot be solely explained by dystrophin mutation or environmental factors.

摘要

贝克尔肌营养不良症由基因突变引起,其特征为进行性肌肉萎缩。贝克尔肌营养不良症患者肌肉萎缩进展情况存在广泛差异,这被认为是多因素导致的,包括突变差异和环境因素。在本病例中,两名分别为2岁和3岁的兄弟具有相同的突变,从而确诊为贝克尔肌营养不良症。由于进行性肌无力,他们在16岁时上下楼梯开始使用扶手。在18年的随访中,哥哥的血清肌酸激酶水平一直很高,显著超过中位数水平。肌肉计算机断层扫描结果显示,哥哥的臀大肌和股四头肌横截面积分别仅为弟弟的一半和三分之一。哥哥臀大肌和股四头肌的平均计算机断层扫描值显著更低。我们的报告表明,贝克尔肌营养不良症中的肌肉萎缩不能仅由肌营养不良蛋白突变或环境因素来解释。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f91/10768573/cacc82900c3d/10.1177_2050313X231221436-fig1.jpg

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