[SMC] Congenital Myasthenic Syndrome With Malignant Hyperthermia Susceptibility in a Child Undergoing Adenotonsillectomy

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A A Pract. 2023 Oct 4;17(10):e01723. doi: 10.1213/XAA.0000000000001723. eCollection 2023 Oct 1.

ABSTRACT

Congenital myasthenic syndromes are rare genetic diseases involving pathologic proteins in the neuromuscular junction. Malignant hyperthermia susceptibility is a genetic disorder involving a hypermetabolic response to volatile anesthetics and depolarizing neuromuscular blocking agents. We present the first reported case of a 3-year-old boy with both congenital myasthenic syndrome and malignant hyperthermia susceptibility, resulting from a mutation in the ryanodine receptor type 1 gene, who underwent an adenotonsillectomy for severe obstructive sleep apnea. We discuss the anesthetic challenges in navigating these 3 comorbidities in the setting of airway surgery.

PMID:37792523 | DOI:10.1213/XAA.0000000000001723


Source: https://pubmed.ncbi.nlm.nih.gov/3779252 ... t6+86293ac