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

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Abstract

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.

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Authors and Affiliations

  1. Department of Anesthesiology and Critical Care, Hiroshima University, 1-2-3 Kasumi, Minami, Hiroshima, 734-8551, Japan

    Yasuo M. Tsutsumi, Rieko Kanzaki, Atsushi Morio, Yuko Noda, Hirotsugu Miyoshi & Takashi Kondo

  2. Department of Anesthesiology, Tokushima University, 3-18-15 Kuramoto, Tokushima, 770-8503, Japan

    Nami Kakuta, Ryosuke Kawanishi & Katsuya Tanaka

  3. Department of Anesthesiology, Hiroshima Prefectural Rehabilitation Center, Higashi-Hiroshima, 739-0036, Japan

    Keiko Mukaida

Authors
  1. Yasuo M. Tsutsumi
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  2. Nami Kakuta
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  3. Ryosuke Kawanishi
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  4. Katsuya Tanaka
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  5. Rieko Kanzaki
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  6. Atsushi Morio
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  7. Yuko Noda
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  8. Hirotsugu Miyoshi
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  9. Takashi Kondo
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  10. Keiko Mukaida
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Contributions

YMT, this author helped conceive/design the case report, write/revise the manuscript, and with obtaining patients consent and analyzing the data. NK, this author helped with the anesthesia procedure, obtaining patients consent, data collection, and write/revise the manuscript. RK, this author helped with the anesthesia procedure and editing the manuscript. KT, this author helped with the anesthesia procedure and editing the manuscript. RK, this author helped with data collection, analyzing the data, and editing the manuscript. AM, this author helped with data collection and editing the manuscript. YN, this author helped with data collection and editing the manuscript. HM, this author helped with data collection and editing the manuscript. TK, this author helped with data collection and editing the manuscript. KM, this author helped conceive/design the case report, and with obtaining patients consent, analyzing the data, and editing the manuscript. All authors have read and approved the manuscript.

Corresponding author

Correspondence to Yasuo M. Tsutsumi.

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Tsutsumi, Y.M., Kakuta, N., Kawanishi, R. et al. Malignant hyperthermia in a 16-day-old infant with congenital diaphragmatic hernia: a case report. J Anesth 35, 311–314 (2021). https://doi.org/10.1007/s00540-021-02902-2

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  • DOI: https://doi.org/10.1007/s00540-021-02902-2

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