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Neuromuscul Disord. 2016 Mar;26(3):201-6. doi: 10.1016/j.nmd.2016.02.007. Epub 2016 Feb 23.

Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study.

Author information

1
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
2
Malignant Hyperthermia Investigation Unit, Toronto General Hospital, Toronto, Ontario, Canada.
3
Division of Pathology, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
4
Departments of Critical Care Medicine and Paediatrics, Neuroscience and Mental Health Program, Research Institute, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
5
Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address: grace.yoon@utoronto.ca.

Abstract

Malignant Hyperthermia (MH) is a rare pharmacogenetic syndrome that can be fatal and the risk of MH in non RYR1-related disorders is unknown. We conducted a retrospective study to determine the prevalence of neuromuscular disorders among patients with MH at our centre. Patients who were admitted to the Hospital for Sick Children during the study period of January 1, 1990 to April 1, 2015 with a CK level > 8000 IU/L, or who received dantrolene, or who had a clinical diagnosis of MH were included. Medical records of 166 patients who met the inclusion criteria were reviewed and 13 patients were identified with MH-like reactions. Nine patients were classified as having true MH after review of the anaesthesia record and genetic testing results were available for 7 patients, 5 of whom had mutations in RYR1. Of the four patients who had severe reactions to anaesthesia but did not meet the criteria for true MH, two had Duchenne muscular dystrophy (DMD). In this retrospective study over 25 years, RYR1 mutations were the most common cause of MH in our cohort, and of these, one third had an underlying neuromuscular diagnosis. Genetic testing of RYR1 is indicated for all patients with MH, and anaesthetic precautions should be considered for any child with symptoms of neuromuscular disease.

KEYWORDS:

Duchenne Muscular Dystrophy (DMD); Malignant Hyperthermia (MH); RYR1

PMID:
26951757
DOI:
10.1016/j.nmd.2016.02.007
[Indexed for MEDLINE]

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