Malignant hyperthermia in a 16-day-old infant with congenital diaphragmatic hernia: a case report

Malignant hyperthermia (MH) is a severe hypermetabolic disorder associated with dysregulation of calcium homeostasis and is triggered by inhalational anesthetics (isoflurane, sevoflurane, desflurane) and a depolarizing muscle relaxant (succinylcholine). We report the case of a 16-day-old infant unde...

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Bibliographic Details
Published in:Journal of anesthesia 2021-04, Vol.35 (2), p.311-314
Main Authors: Tsutsumi, Yasuo M., Kakuta, Nami, Kawanishi, Ryosuke, Tanaka, Katsuya, Kanzaki, Rieko, Morio, Atsushi, Noda, Yuko, Miyoshi, Hirotsugu, Kondo, Takashi, Mukaida, Keiko
Format: Article
Language:English
Subjects:
Anesthesiology
Care and treatment
Child
Clinical Report
Critical Care Medicine
Dantrolene - therapeutic use
Emergency Medicine
Genetic disorders
Hernia
Hernias, Diaphragmatic, Congenital
Humans
Hyperthermia
Infant
Intensive
Malignant hyperthermia
Malignant Hyperthermia - genetics
Medicine
Medicine & Public Health
Mutation
Pain Medicine
Remifentanil
Succinylcholine
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Summary:Malignant hyperthermia (MH) is a severe hypermetabolic disorder associated with dysregulation of calcium homeostasis and is triggered by inhalational anesthetics (isoflurane, sevoflurane, desflurane) and a depolarizing muscle relaxant (succinylcholine). We report the case of a 16-day-old infant undergoing laparoscopic surgery. The patient developed hyperthermia and hypercarbia with muscle rigidity. After the diagnosis of MH, dantrolene was administered with sufficient hydration. The patient was transferred to the pediatric intensive care unit for monitoring and treatment of acute renal injury due to myoglobinuria. Subsequently, two variants of the ryanodine receptor 1 ( RYR1 ) gene were identified in the patient as the mutation point at c.1589G > A p.Arg530His and c.1841G > T p.Arg614Leu, which are known to be associated with MH. This was a rare case of MH in a 16-day-old infant that might be related to two RYR1 mutations inherited from the parents.
ISSN:0913-8668
1438-8359
DOI:10.1007/s00540-021-02902-2