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儿科肌肉磁共振成像:临床、病理及遗传学关联

Muscle MRI in pediatrics: clinical, pathological and genetic correlation.

作者信息

Cejas Claudia P, Serra Maria M, Galvez David F Gonzalez, Cavassa Eliana A, Taratuto Ana L, Vazquez Gabriel A, Massaro Mario E L, Schteinschneider Angeles V

机构信息

Radiology Department, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Montañeses 2325, CABA, C1428AQK, Buenos Aires, Argentina.

Department of Neuropediatrics, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.

出版信息

Pediatr Radiol. 2017 May;47(6):724-735. doi: 10.1007/s00247-016-3777-6. Epub 2017 Jan 19.

Abstract

Pediatric myopathies comprise a very heterogeneous group of disorders that may develop at different ages and affect different muscle groups. Its diagnosis is sometimes difficult and must be confirmed by muscle biopsy and/or genetic analysis. In recent years, muscle involvement patterns observed on MRI have become a valuable tool, aiding clinical diagnosis and enriching pathological and genetic assessments. We selected eight myopathy cases from our institutional database in which the pattern of muscle involvement observed on MRI was almost pathognomonic and could therefore contribute to establishing diagnosis. Muscle biopsy, genetic diagnosis or both confirmed all cases.

摘要

儿童肌病是一组非常异质性的疾病,可在不同年龄发病并累及不同肌肉群。其诊断有时很困难,必须通过肌肉活检和/或基因分析来确诊。近年来,MRI上观察到的肌肉受累模式已成为一种有价值的工具,有助于临床诊断并丰富病理和基因评估。我们从机构数据库中选取了8例肌病病例,这些病例在MRI上观察到的肌肉受累模式几乎具有诊断意义,因此有助于确诊。所有病例均经肌肉活检、基因诊断或两者同时确诊。

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