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