RYR1 myopathy complicated by RSV bronchiolitis requiring intubation leading to posthypoxic leukoencephalopathy in a 4 year-old.
Keywords:myopathy, ICU, respiratory, RYR1, central-core, radiology
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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Copyright (c) 2023 Vincent Czerwinski, Shawn Sood MD MBA, Francesca Perez Marques MD, Travis Langner MD, Kelly Dahlstrom DO, Kyle Summers DO
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