title: Mitochondrial myopathy presenting as rhabdomyolysis.
abstract: A 37-year-old white woman presented with acute bilateral hamstring pain after hiking. She had a creatine kinase level of 11,144 U/L. Rhabdomyolysis was diagnosed and the patient was admitted for intravenous fluid hydration. The patient continued to have exercise-induced myalgias and elevations in her creatine kinase level. Rheumatologic causes were ruled out and results from electromyogram testing were nondiagnostic. A muscle biopsy revealed a mitochondrial myopathy. The 22 mitochondrial DNA and transfer RNA genes were sequenced. An A-to-G transition was found at nucleotide position 4281 in the transfer RNA isoleucine gene. The patient was placed on a regimen of riboflavin, vitamin C, and coenzyme Q10, which provided mild relief. The patient returned to the emergency department 2 more times after vigorous exercise, with creatine kinase levels as high as 2800 U/L. At last follow-up, the patient was using a fentanyl citrate transdermal patch, which enabled her to perform moderate exercise without pain.
authors.affiliation: Midwestern University/Arizona College of Osteopathic Medicine, Glendale, AZ 85308-6500, USA. dpatchett@midwestern.edu
authors.forename: David C
authors.initials: DC
authors.lastname: Patchett
authors.forename: Michael L
authors.initials: ML
authors.lastname: Grover
mesh_terms: D000208:Acute Disease; D000328:Adult; D003402:Creatine Kinase; D003681:Dehydration / Q000150:complications*; D003937:Diagnosis, Differential; D015444:Exercise; D005260:Female; D006801:Humans; D008903:Minerals / Q000627:therapeutic use; D017240:Mitochondrial Myopathies / Q000175:diagnosis* / Q000188:drug therapy / Q000473:pathology; D012206:Rhabdomyolysis / Q000175:diagnosis* / Q000473:pathology; D014815:Vitamins / Q000627:therapeutic use
chemical_list: D008903:Minerals; D014815:Vitamins; D003402:Creatine Kinase