Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS): A mitochondrial disorder presents as fibromyalgia

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....

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Veröffentlicht in:Southern medical journal (Birmingham, Ala.) Ala.), 2004-05, Vol.97 (5), p.528-531
Hauptverfasser: DESOUZA, Rowena A, CARDENAS, Raul J, LINDLER, Tekisha U, DE LA FUENTE, Francisco A, MAYORQUIN, Francisco J, TROCHTENBERG, David S
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container_end_page 531
container_issue 5
container_start_page 528
container_title Southern medical journal (Birmingham, Ala.)
container_volume 97
creator DESOUZA, Rowena A
CARDENAS, Raul J
LINDLER, Tekisha U
DE LA FUENTE, Francisco A
MAYORQUIN, Francisco J
TROCHTENBERG, David S
description 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.
doi_str_mv 10.1097/00007611-200405000-00023
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source MEDLINE; Journals@Ovid Complete
subjects Aged
Biological and medical sciences
Care and treatment
Diagnosis
Diagnosis, Differential
Errors of metabolism
Female
Fibromyalgia
Fibromyalgia - diagnosis
Forecasts and trends
General aspects
Health care industry
Humans
Lactic Acid - blood
Lactic acidosis
Medical sciences
MELAS Syndrome - diagnosis
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Mitochondrial diseases
Muscle, Skeletal - pathology
Pyruvic Acid - blood
title Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS): A mitochondrial disorder presents as fibromyalgia
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