RYR1 myopathy complicated by RSV bronchiolitis requiring intubation leading to posthypoxic leukoencephalopathy in a 4 year-old.

Authors

  • Vincent Czerwinski The University of Kansas School of Medicine https://orcid.org/0000-0003-4421-5751
  • Shawn Sood MD MBA The University of Kansas Health System, Division of Pediatric Critical Care https://orcid.org/0000-0003-4882-8184
  • Francesca Perez Marques MD The University of Kansas Health System, Division of Pediatric Critical Care
  • Travis Langner MD The University of Kansas Health System, Division of Pediatric Critical Care https://orcid.org/0000-0003-0049-0794
  • Kelly Dahlstrom DO The University of Kansas Health System, Department of Radiology
  • Kyle Summers DO The University of Kansas Health System, Department of Radiology https://orcid.org/0000-0002-7413-1818

DOI:

https://doi.org/10.17161/rrnmf.v4i4.19949

Keywords:

myopathy, ICU, respiratory, RYR1, central-core, radiology

Abstract

Central core disease due to RYR1 mutations is a rare heterogeneous myopathy characterized by skeletal muscle weakness. In light of both the rarity of presentation as well as the relatively broad spectrum of clinical phenotypes, there is a need to report treatment strategies for common complications of this condition. In this case, we outline the ICU management of a 4 year-old girl with central core disease caused by RYR1 mutation who was hospitalized due to respiratory syncytial virus (RSV) bronchiolitis leading to respiratory failure. Her hospital stay was complicated by multiple failed extubations, hospital infections, and post-anoxic leukoencephalopathy. 

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References

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Published

2023-09-15

Issue

Vol. 4 No. 4 (2023)

Section

Clinic and Case Reports

License

Copyright (c) 2023 Vincent Czerwinski, Shawn Sood MD MBA, Francesca Perez Marques MD, Travis Langner MD, Kelly Dahlstrom DO, Kyle Summers DO

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

How to Cite

Czerwinski, V., Sood, S., Perez Marques, F. ., Langner, T., Dahlstrom, K. ., & Summers, K. (2023). RYR1 myopathy complicated by RSV bronchiolitis requiring intubation leading to posthypoxic leukoencephalopathy in a 4 year-old. RRNMF Neuromuscular Journal, 4(4). https://doi.org/10.17161/rrnmf.v4i4.19949