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
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author Edwards, Christopher M
Jenkins, Thomas K
Gravenstein, Nikolaus
Gunnett, Amy M
Martin, Timothy W
author_facet Edwards, Christopher M
Jenkins, Thomas K
Gravenstein, Nikolaus
Gunnett, Amy M
Martin, Timothy W
author_sort Edwards, Christopher M
collection PubMed
description 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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spelling pubmed-93870882022-08-20 Genetically Confirmed Malignant Hyperthermia in a Six-Week-Old Infant: A Case Report Edwards, Christopher M Jenkins, Thomas K Gravenstein, Nikolaus Gunnett, Amy M Martin, Timothy W Cureus Anesthesiology 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. Cureus 2022-07-19 /pmc/articles/PMC9387088/ /pubmed/35989752 http://dx.doi.org/10.7759/cureus.27010 Text en Copyright © 2022, Edwards et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Anesthesiology
Edwards, Christopher M
Jenkins, Thomas K
Gravenstein, Nikolaus
Gunnett, Amy M
Martin, Timothy W
Genetically Confirmed Malignant Hyperthermia in a Six-Week-Old Infant: A Case Report
title Genetically Confirmed Malignant Hyperthermia in a Six-Week-Old Infant: A Case Report
title_full Genetically Confirmed Malignant Hyperthermia in a Six-Week-Old Infant: A Case Report
title_fullStr Genetically Confirmed Malignant Hyperthermia in a Six-Week-Old Infant: A Case Report
title_full_unstemmed Genetically Confirmed Malignant Hyperthermia in a Six-Week-Old Infant: A Case Report
title_short Genetically Confirmed Malignant Hyperthermia in a Six-Week-Old Infant: A Case Report
title_sort genetically confirmed malignant hyperthermia in a six-week-old infant: a case report
topic Anesthesiology
url 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
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