title: Muscle MRI in pediatrics: clinical, pathological and genetic correlation.
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.
authors.affiliation: Radiology Department, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Montañeses 2325, CABA, C1428AQK, Buenos Aires, Argentina. ccejas@fleni.org.ar.
authors.forename: Claudia P
authors.initials: CP
authors.lastname: Cejas
authors.affiliation: Radiology Department, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Montañeses 2325, CABA, C1428AQK, Buenos Aires, Argentina.
authors.forename: Maria M
authors.initials: MM
authors.lastname: Serra
authors.affiliation: Radiology Department, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Montañeses 2325, CABA, C1428AQK, Buenos Aires, Argentina.
authors.forename: David F Gonzalez
authors.initials: DFG
authors.lastname: Galvez
authors.affiliation: Department of Neuropediatrics, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Eliana A
authors.initials: EA
authors.lastname: Cavassa
authors.affiliation: Neuropathology Consultant, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Ana L
authors.initials: AL
authors.lastname: Taratuto
authors.affiliation: Department of Neuropediatrics, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Gabriel A
authors.initials: GA
authors.lastname: Vazquez
authors.affiliation: Department of Neuropediatrics, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Mario E L
authors.initials: MEL
authors.lastname: Massaro
authors.affiliation: Department of Neuropediatrics, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina.
authors.forename: Angeles V
authors.initials: AV
authors.lastname: Schteinschneider
mesh_terms: D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging* / Q000473:pathology*; D009135:Muscular Diseases / Q000000981:diagnostic imaging* / Q000473:pathology*
keywords: Children; Congenital myopathies; Magnetic resonance imaging; Muscular dystrophy; Myopathy; Pediatric myopathy