Clinical and morphological features of malignant hyperthermia: a rare case from practice

Abstract

Malignant hyperthermia, is one of the most serious complications of modern anesthesia, which is a pharmacogenetic disease phenotypically manifested by skeletal muscle hypermetabolism and rhabdomyolysis during or after general anesthesia using inhalation anesthetics. An unexpected increase in CO₂ concentration at the end of exhalation is the most common initial sign of malignant hyperthermia. Atypical forms of this pharmacogenetic disease are observed much more often than lightning or fulminant. In Russia, malignant hyperthermia currently remains a problem.

We present a case of malignant hyperthermia in a 19-year-old girl who underwent surgery for nasal breathing disorders and received Sevoran anesthesia as support. The patient died 1 h 25 min after the surgery during withdrawal from anesthesia caused by a clinically confirmed syndrome of malignant hyperthermia. Forensic autopsy confirmed this diagnosis. The morphological changes in the skeletal muscles using both plain and elective histological stains were described.

The presented observation is valuable owing to the rarity of lightning-fast forms of malignant hyperthermia and the high lethality accompanying these pathologies. This expert case demonstrate how a competent and comprehensive histological examination, including the use of genetic testing, allows correct formulation of a diagnosis and, if necessary, reasonably answer questions from law enforcement agencies.

Keywords

malignant hyperthermia / anesthesia / Sevorane / ryanodine receptor / rhabdomyolysis

References

[1] Lawal TA, Wires ES, Terry NL, et al. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019. Orphanet J Rare Dis. 2020;15(1):113. doi: 10.1186/s13023-020-01384-x

[2] Lawal T.A., Wires E.S., Terry N.L., et al. Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990–2019 // Orphanet J Rare Dis. 2020. Vol. 15, N 1. Р. 113. doi: 10.1186/s13023-020-01384-x

[3] Gong X. Malignant hyperthermia when dantrolene is not readily available. BMC Anesthesiol. 2021;21(1):119. doi: 10.1186/s12871-021-01328-3

[4] Gong X. Malignant hyperthermia when dantrolene is not readily available // BMC Anesthesiol. 2021. Vol. 21, N 1. Р. 119. doi: 10.1186/s12871-021-01328-3

[5] Yang L, Tautz T, Zhang S, et al. The current status of malignant hyperthermia. J Biomed Res. 2020;34(2):75–85. doi: 10.7555/JBR.33.20180089

[6] Yang L., Tautz T., Zhang S., et al. The current status of malignant hyperthermia // J Biomed Res. 2020. Vol. 34, N 2. Р. 75–85. doi: 10.7555/JBR.33.20180089

[7] Knuiman GJ, Küsters B, Eshuis L, et al. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations. J Neurol. 2019;266(4):876–887. doi: 10.1007/s00415-019-09209-z

[8] Knuiman G.J., Küsters B., Eshuis L., et al. The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations // J Neurol. 2019 Vol. 266, N 4. Р. 876–887. doi: 10.1007/s00415-019-09209-z

[9] Chang L, Daly C, Miller DM, et al. Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals. Br J Anaesth. 2019;122(5):613–621. doi: 10.1016/j.bja.2019.02.010

[10] Chang L., Daly C., Miller D.M., et al. Permeabilised skeletal muscle reveals mitochondrial deficiency in malignant hyperthermia-susceptible individuals // Br J Anaesth. 2019. Vol. 122, N 5. Р. 613–621. doi: 10.1016/j.bja.2019.02.010

[11] Larach MG, Localio AR, Allen GC, et al. A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology. 1994;80(4):771–779. doi: 10.1097/00000542-199404000-00008

[12] Larach M.G., Localio A.R., Allen G.C., et al. A clinical grading scale to predict malignant hyperthermia susceptibility // Anesthesiology. 1994. Vol. 80, N 4. Р. 771–779. doi: 10.1097/00000542-199404000-00008

[13] Lie JT, Holley KF, Kampa WR, et al. New histochemical method for morphologic diagnosis of early stages of myocardial ischemia. Proc Mayo Clin.1971;46(5):319–327.

[14] Lie J.T., Holley K.F., Kampa W.R., et al. New histochemical method for morphologic diagnosis of early stages of myocardial ischemia // Proc Mayo Clin. 1971. Vol. 46, N 5. Р. 319–327.

RIGHTS & PERMISSIONS

Eco-Vector