Open AccessMalignant Hyperthermia-Like Syndrome and Carnitine Palmitoyltransferase II Deficiency with Heterozygous R503C Mutation
Author(s) -
Kirk Hogan,
Georgirene D. Vladutiu
Publication year - 2009
Publication title -
anesthesia and analgesia/anesthesia and analgesia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.404
H-Index - 201
eISSN - 1526-7598
pISSN - 0003-2999
DOI - 10.1213/ane.0b013e3181ad63b4
Subject(s) - malignant hyperthermia , medicine , hyperkalemia , rhabdomyolysis , endocrinology , hypercarbia , metabolic acidosis , dantrolene sodium , myoglobinuria , muscle rigidity , carnitine , hyperthermia , dantrolene , halothane , arginine , acidosis , anesthesia , biochemistry , amino acid , chemistry , calcium
We describe a child who developed a malignant hyperthermia-like syndrome after exposure to succinylcholine and halothane. Many features of a typical malignant hyperthermia episode were present, including tachydysrhythmia, tachypnea, and fever in association with metabolic acidosis, hyperCKemia, myglobinemia, and rapid recovery without residual effects upon administration of dantrolene, sodium bicarbonate, and active cooling. Muscle rigidity, hypercarbia, and hyperkalemia were not observed. The patient was found to be heterozygous for a mutation in the carnitine palmitoyltransferase II gene (CPT2) encoding an arginine to cysteine substitution at amino acid 503 (R503C) with reduced activity of the enzyme.