Genetically Confirmed Malignant Hyperthermia in a Six-Week-Old Infant: A Case Report

A six-week-old 3.9-kg infant presented for microlaryngoscopy and diaphragmatic hernia repair. While positioning for laparoscopy after microlaryngoscopy, the infant developed muscle rigidity, worsening hypercarbia, tachycardia, and early hyperthermia. Sevoflurane was discontinued, and the clinical pi...

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Detalles Bibliográficos
Autores principales: Edwards, Christopher M, Jenkins, Thomas K, Gravenstein, Nikolaus, Gunnett, Amy M, Martin, Timothy W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Anesthesiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9387088/
https://www.ncbi.nlm.nih.gov/pubmed/35989752
http://dx.doi.org/10.7759/cureus.27010
Descripción
Sumario:A six-week-old 3.9-kg infant presented for microlaryngoscopy and diaphragmatic hernia repair. While positioning for laparoscopy after microlaryngoscopy, the infant developed muscle rigidity, worsening hypercarbia, tachycardia, and early hyperthermia. Sevoflurane was discontinued, and the clinical picture indicating malignant hyperthermia (MH) resolved without dantrolene. Subsequent genetic testing revealed that both the patient and his father carried a mutation in the RYR1 gene that is diagnostic for MH. This is the second youngest genetically confirmed case of MH. This case adds to a limited body of evidence regarding MH presentation and diagnosis in neonates and infants.

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