| Literature DB >> 28102454 |
Claudia P Cejas1, Maria M Serra2, David F Gonzalez Galvez2, Eliana A Cavassa3, Ana L Taratuto4, Gabriel A Vazquez3, Mario E L Massaro3, Angeles V Schteinschneider3.
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.Entities:
Keywords: Children; Congenital myopathies; Magnetic resonance imaging; Muscular dystrophy; Myopathy; Pediatric myopathy
Mesh:
Year: 2017 PMID: 28102454 DOI: 10.1007/s00247-016-3777-6
Source DB: PubMed Journal: Pediatr Radiol ISSN: 0301-0449