Case Report

Mitochondrial Encephalomyopathy with Lactic Acidosis and Strokelike Episodes (MELAS): A Mitochondrial Disorder Presents as Fibromyalgia

Authors: Rowena A. DeSouza, MD, Raul J. Cardenas, MD, Tekisha U. Lindler, MD, Francisco A. De la Fuente, MD, Francisco J. Mayorquin, MD, David S. Trochtenberg, MD, FCCP

Abstract

This case report describes a patient who presented with symptoms and signs of longstanding fibromyalgia. Routine laboratory tests revealed an elevated anion gap. Evaluation of the elevated anion gap demonstrated elevated lactate and pyruvate levels and a lactate-to-pyruvate ratio greater than 20:1. A muscle biopsy was performed, exhibiting red ragged fibers, pathognomonic for a mitochondrial disorder. The patient was diagnosed with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS). This is the first report describing fibromyalgia as the initial presentation of MELAS. This article outlines the diagnostic process that can assist the physician in distinguishing mitochondrial disorders from other muscular diseases, particularly fibromyalgia.

This content is limited to qualifying members.

Existing members, please login first

If you have an existing account please login now to access this article or view purchase options.

Purchase only this article ($25)

Create a free account, then purchase this article to download or access it online for 24 hours.

Purchase an SMJ online subscription ($75)

Create a free account, then purchase a subscription to get complete access to all articles for a full year.

Purchase a membership plan (fees vary)

Premium members can access all articles plus recieve many more benefits. View all membership plans and benefit packages.

References

1. Goldenberg DL. Fibromyalgia syndrome a decade later: what have we learned?Arch Intern Med1999;159:777–785.
 
2. Wolfe F, Smythe HA, Yunus MB, et al. The American College of Rheumatology 1990 Criteria for the Classification of Fibromyalgia: report of the Multicenter Criteria Committee. Arthritis Rheum1990;33:160–172.
 
3. Rozwodowska M, Drewa G, Zbytniewski Z, et al. Mitochondrial diseases. Med Sci Monit 2000;6:817–822.
 
4. Canafoglia L, Franceschetti S, Antozzi C, et al. Epileptic phenotypes associated with mitochondrial disorders. Neurology 2001;56:1340–1346.
 
5. Schoffner JM. Mitochondrial myopathy diagnosis. Neurol Clin 2000;18:105–123.
 
6. Spellberg B, Carroll RM, Robinson E, et al. mtDNA disease in the primary care setting. Arch Intern Med 2001;161:2497–2500.
 
7. Tarnopolsky M, Martin J. Creatine monohydrate increases strength in patients with neuromuscular disease. Neurology 1999;52:854–857.
 
8. FDA Medwatch 2002. 2002 Safety Alerts for Drugs, Biologics, Medical Devices, and Dietary Supplements: Bristol-Myers Squibb Virology—Lovenox (enoxaparin sodium). Available at:http://www.fda.gov/medwatch/safety/2002/safety02.htm#loveno. Accessed July 22, 2003.
 
9. Argov Z, Arnold DL. MR spectroscopy and imaging in metabolic myopathies. Neurol Clin 2000;18:35–52.
 
10. Munnich A, Rustin P. Clinical spectrum and diagnosis of mitochondrial disorders. Am J Med Genet2001;106:4–17.