title: Case report: Death in the emergency department: an unrecognized awake malignant hyperthermia-like reaction in a six-year-old.
abstract: A healthy 6-year-old boy developed lower extremity rigidity, trismus, and fever after playing in a splash pool. On arrival in the emergency department, he appeared to be seizing. An endotracheal tube was emergently placed using succinylcholine. Cardiac arrest followed. He could not be resuscitated. Postmortem genetic analysis found a novel RYR1 variant. Family testing revealed the same variant in his father who also had muscle contracture testing diagnostic for susceptibility to malignant hyperthermia and central core disease diagnosed histologically. Because there was no exposure to volatile anesthetics before the onset of symptoms, this is a case of "awake" malignant hyperthermia worsened by succinylcholine.
authors.affiliation: Office of the District 5 Medical Examiner, Leesburg, Florida, USA.
authors.forename: Wendy A
authors.initials: WA
authors.lastname: Lavezzi
authors.forename: John F
authors.initials: JF
authors.lastname: Capacchione
authors.forename: Sheila M
authors.initials: SM
authors.lastname: Muldoon
authors.forename: Nyamkhishig
authors.initials: N
authors.lastname: Sambuughin
authors.forename: Saiid
authors.initials: S
authors.lastname: Bina
authors.forename: Deanna
authors.initials: D
authors.lastname: Steele
authors.forename: Barbara W
authors.initials: BW
authors.lastname: Brandom
mesh_terms: D002648:Child; D003975:Diazepam / Q000009:adverse effects; D004632:Emergency Medical Services; D004636:Emergency Service, Hospital; D017809:Fatal Outcome; D006801:Humans; D006993:Hypnotics and Sedatives / Q000009:adverse effects; D007442:Intubation, Intratracheal; D008099:Liver / Q000737:chemistry; D008140:Lorazepam; D008297:Male; D008305:Malignant Hyperthermia / Q000473:pathology / Q000503:physiopathology*; D009125:Muscle Relaxants, Central / Q000009:adverse effects; D009127:Muscle Rigidity / Q000139:chemically induced; D020512:Myopathy, Central Core / Q000235:genetics; D009467:Neuromuscular Depolarizing Agents / Q000009:adverse effects; D012128:Respiratory Distress Syndrome / Q000139:chemically induced; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D013390:Succinylcholine / Q000009:adverse effects
chemical_list: D006993:Hypnotics and Sedatives; D009125:Muscle Relaxants, Central; D009467:Neuromuscular Depolarizing Agents; D019837:Ryanodine Receptor Calcium Release Channel; D013390:Succinylcholine; D008140:Lorazepam; D003975:Diazepam