Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers.

Authors

• Lauren E Potts
• Jason J Longwell
• Peter Bedocs
• Nyamkhishig Sambuughin
• Saiid Bina
• Patrick B Cooper
• Craig G Carroll
• Francis O'Connor
• Patricia Deuster
• Sheila M Muldoon
• Susan Hamilton
• John F Capacchione

Publication/Presentation Date

7-15-2014

Abstract

A 30-year-old man developed unexplained rhabdomyolysis, persistently increased creatine kinase and severe debilitating muscle cramps. After a nondiagnostic neurologic evaluation, he was referred for a muscle biopsy, to include histology/histochemistry, a myoglobinuria panel, and a caffeine halothane contracture test. Only the caffeine halothane contracture test was positive, and a subsequent ryanodine receptor type 1 gene evaluation revealed a mutation functionally causative for malignant hyperthermia. His identical twin brother, who was suffering from similar complaints, was found to share the same mutation. They each require oral dantrolene therapy to control symptoms, despite difficulty in identifying health care providers familiar with treating this disorder.

Volume

3

Issue

2

First Page

23

Last Page

26

ISSN

2325-7237

Published In/Presented At

Potts, L. E., Longwell, J. J., Bedocs, P., Sambuughin, N., Bina, S., Cooper, P. B., Carroll, C. G., O'Connor, F., Deuster, P., Muldoon, S. M., Hamilton, S., & Capacchione, J. F. (2014). Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers. A & A case reports, 3(2), 23–26. https://doi.org/10.1213/XAA.0000000000000043

Disciplines

Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods

PubMedID

25611019

Department(s)

Administration and Leadership

Document Type

Article