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

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.

• 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
• Journal: A & A case reports (A A Case Rep) Vol. 3 Issue 2 Pg. 23-6 (Jul 15 2014) ISSN: 2325-7237 [Electronic] United States
• PMID: 25611019 (Publication Type: Journal Article)