Neurology · 2025
Pearls & Oy-sters: Severe Myotonic Crisis Resembling Malignant Hyperthermia.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Wadhwani Anil R, Aggarwal Ashna, Loscalzao Steven, McSherry Megan L, Lockman Justin L, Brandsema John Frederick, McGuire Jennifer, Matesanz Susan
Аннотация
Patients with myotonic disorders are at risk for severe generalized muscle contraction, referred to as a "myotonic crisis." For those patients with nondystrophic myotonia (NDM), the most common trigger of a myotonic crisis is exposure to succinylcholine. In this case, a 10-year-old female patient with NDM secondary to an SCN4A pathogenic variant developed a severe myotonic crisis in the setting of an upper respiratory infection and asthma flare treated with a beta-adrenergic agonist (ß-agonist). She presented with generalized rigidity and features of hypermetabolism resembling an anesthetic-related malignant hyperthermia. Management necessitated multidisciplinary collaboration, a complex intubation strategy, and an extended course in the pediatric intensive care unit. We suspected that this crisis was precipitated in part by continuous ß-agonist use during her initial asthma management. Treatments targeting sequential steps of the myocyte activation cascade tempered the contractile apparatus leading to clinical improvement in rigidity.