| Literature DB >> 25611019 |
Lauren E Potts1, 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.
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.Entities:
Year: 2014 PMID: 25611019 DOI: 10.1213/XAA.0000000000000043
Source DB: PubMed Journal: A A Case Rep ISSN: 2325-7237