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A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser.

作者信息

Girard Thierry, Suhner Markus, Levano Soledad, Singer Martine, Zollinger Andreas, Hofer Christoph K

机构信息

Department of Anesthesiology, University of Basel, Switzerland.

出版信息

Anesth Analg. 2008 Dec;107(6):1953-5. doi: 10.1213/ane.0b013e3181857903.

DOI:10.1213/ane.0b013e3181857903
PMID:19020143
Abstract

A 37-yr-old patient scheduled for elective bursectomy developed fulminant malignant hyperthermia (MH) under sevoflurane anesthesia. The first sign was a dramatic increase in end-tidal CO(2). Symptomatic and specific therapy was rapidly instituted. Postoperative rhabdomyolysis was treated with veno-venous hemofiltration. The patient rejected open muscle biopsy for in vitro contracture testing. Therefore, molecular testing was performed. An infrequent MH causative mutation was identified on the ryanodine receptor gene. This case report confirms the causative nature of this mutation. It also shows that molecular genetic investigation may be as appropriate as in vitro contracture testing to confirm the diagnosis after a clinical episode of MH.

摘要

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