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Muscle MRI in pediatrics: clinical, pathological and genetic correlation

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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.

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Authors and Affiliations

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

    Claudia P. Cejas, Maria M. Serra & David F. Gonzalez Galvez

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

    Eliana A. Cavassa, Gabriel A. Vazquez, Mario E. L. Massaro & Angeles V. Schteinschneider

  3. Neuropathology Consultant, Foundation for Neurological Research Dr. Raúl Carrea (FLENI), Buenos Aires, Argentina

    Ana L. Taratuto

Authors
  1. Claudia P. Cejas
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  2. Maria M. Serra
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  3. David F. Gonzalez Galvez
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  4. Eliana A. Cavassa
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  5. Ana L. Taratuto
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  6. Gabriel A. Vazquez
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  7. Mario E. L. Massaro
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  8. Angeles V. Schteinschneider
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Corresponding author

Correspondence to Claudia P. Cejas.

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Conflicts of interest

Dr. Cejas is a speaker (Latin American) for General Electric. Drs. Serra, Galvez, Cavassa, Taratuto, Vazquez, Massaro and Schteinschneider report no conflicts of interest.

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Cejas, C.P., Serra, M.M., Galvez, D.F.G. et al. Muscle MRI in pediatrics: clinical, pathological and genetic correlation. Pediatr Radiol 47, 724–735 (2017). https://doi.org/10.1007/s00247-016-3777-6

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  • DOI: https://doi.org/10.1007/s00247-016-3777-6

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