Literature DB >> 23267001

Case report: Death in the emergency department: an unrecognized awake malignant hyperthermia-like reaction in a six-year-old.

Wendy A Lavezzi1, John F Capacchione, Sheila M Muldoon, Nyamkhishig Sambuughin, Saiid Bina, Deanna Steele, Barbara W Brandom.   

Abstract

A healthy 6-year-old boy developed lower extremity rigidity, trismus, and fever after playing in a splash pool. On arrival in the emergency department, he appeared to be seizing. An endotracheal tube was emergently placed using succinylcholine. Cardiac arrest followed. He could not be resuscitated. Postmortem genetic analysis found a novel RYR1 variant. Family testing revealed the same variant in his father who also had muscle contracture testing diagnostic for susceptibility to malignant hyperthermia and central core disease diagnosed histologically. Because there was no exposure to volatile anesthetics before the onset of symptoms, this is a case of "awake" malignant hyperthermia worsened by succinylcholine.

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Year:  2012        PMID: 23267001     DOI: 10.1213/ANE.0b013e3182768f99

Source DB:  PubMed          Journal:  Anesth Analg        ISSN: 0003-2999            Impact factor:   5.108


  8 in total

1.  Malignant hyperthermia and the clinical significance of type-1 ryanodine receptor gene (RYR1) variants: proceedings of the 2013 MHAUS Scientific Conference.

Authors:  Sheila Riazi; Natalia Kraeva; Sheila M Muldoon; James Dowling; Clara Ho; Maria-Alexandra Petre; Jerome Parness; Robert T Dirksen; Henry Rosenberg
Journal:  Can J Anaesth       Date:  2014-09-05       Impact factor: 5.063

2.  Round Table on Malignant Hyperthermia in Physically Active Populations: Meeting Proceedings.

Authors:  Yuri Hosokawa; Douglas J Casa; Henry Rosenberg; John F Capacchione; Emmanuel Sagui; Sheila Riazi; Luke N Belval; Patricia A Deuster; John F Jardine; Stavros A Kavouras; Elaine C Lee; Kevin C Miller; Sheila M Muldoon; Francis G O'Connor; Scott R Sailor; Nyamkhishig Sambuughin; Rebecca L Stearns; William M Adams; Robert A Huggins; Lesley W Vandermark
Journal:  J Athl Train       Date:  2017-03-07       Impact factor: 2.860

Review 3.  Overlapping Mechanisms of Exertional Heat Stroke and Malignant Hyperthermia: Evidence vs. Conjecture.

Authors:  Orlando Laitano; Kevin O Murray; Lisa R Leon
Journal:  Sports Med       Date:  2020-09       Impact factor: 11.136

4.  Correlation of phenotype with genotype and protein structure in RYR1-related disorders.

Authors:  Joshua J Todd; Vatsala Sagar; Tokunbor A Lawal; Carolyn Allen; Muslima S Razaqyar; Monique S Shelton; Irene C Chrismer; Xuemin Zhang; Mary M Cosgrove; Anna Kuo; Ruhi Vasavada; Minal S Jain; Melissa Waite; Dinusha Rajapakse; Jessica W Witherspoon; Graeme Wistow; Katherine G Meilleur
Journal:  J Neurol       Date:  2018-08-28       Impact factor: 4.849

5.  Fatal awake malignant hyperthermia episodes in a family with malignant hyperthermia susceptibility: a case series.

Authors:  Elena Zvaritch; Robyn Gillies; Natalia Kraeva; Maxime Richer; Heinz Jungbluth; Sheila Riazi
Journal:  Can J Anaesth       Date:  2019-02-19       Impact factor: 5.063

6.  Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.

Authors:  Hui J Wang; Chang Seok Lee; Rachel Sue Zhen Yee; Linda Groom; Inbar Friedman; Lyle Babcock; Dimitra K Georgiou; Jin Hong; Amy D Hanna; Joseph Recio; Jong Min Choi; Ting Chang; Nadia H Agha; Jonathan Romero; Poonam Sarkar; Nicol Voermans; M Waleed Gaber; Sung Yun Jung; Matthew L Baker; Robia G Pautler; Robert T Dirksen; Sheila Riazi; Susan L Hamilton
Journal:  Nat Commun       Date:  2020-10-09       Impact factor: 17.694

7.  Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.

Authors:  Tokunbor A Lawal; Aneesh Patankar; Joshua J Todd; Muslima S Razaqyar; Irene C Chrismer; Xuemin Zhang; Melissa R Waite; Minal S Jain; Magalie Emile-Backer; Jessica W Witherspoon; Chia-Ying Liu; Christopher Grunseich; Katherine G Meilleur
Journal:  J Neuromuscul Dis       Date:  2021

8.  [Profile of malignant hyperthermia susceptibility reports confirmed with muscular contracture test in Brazil].

Authors:  Helga Cristina Almeida da Silva; Gisele Ferreira; Gislene Rodrigues; Joilson Moura Dos Santos; Pamela Vieira Andrade; Alexandre Hortense; Marcelo Vaz Perez; José Luiz Gomes do Amaral
Journal:  Braz J Anesthesiol       Date:  2018-10-26
  8 in total

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