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 |
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container_title | Southern medical journal (Birmingham, Ala.) |
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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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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. 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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.</description><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Care and treatment</subject><subject>Diagnosis</subject><subject>Diagnosis, Differential</subject><subject>Errors of metabolism</subject><subject>Female</subject><subject>Fibromyalgia</subject><subject>Fibromyalgia - diagnosis</subject><subject>Forecasts and trends</subject><subject>General aspects</subject><subject>Health care industry</subject><subject>Humans</subject><subject>Lactic Acid - blood</subject><subject>Lactic acidosis</subject><subject>Medical sciences</subject><subject>MELAS Syndrome - diagnosis</subject><subject>Metabolic diseases</subject><subject>Miscellaneous hereditary metabolic disorders</subject><subject>Mitochondrial diseases</subject><subject>Muscle, Skeletal - pathology</subject><subject>Pyruvic Acid - blood</subject><issn>0038-4348</issn><issn>1541-8243</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptkc2OFCEUhYnROO3oKxg2Gl3UCEVRUO46k_En6YkLdV25BZduHKoooTqTfgJfW8Zu_5K5hBDgO4dwDyGUswvOOvWGlVIt51XNWMNk2VVl1uIBWXHZ8ErXjXhIVowJXTWi0WfkSc7f7kRSt4_JGZdcl0uxIj-u_RLNLk42eQgUJ4PzDkIcD3GGZXegt37Z0QBm8YaC8TZmnylMluYlxRsM_gYpzj5Hi5m-ur7arD-_fkvXdPzP1xYgWUx0TphxWopFps4PqTwEYevhKXnkIGR8dlrPydd3V18uP1SbT-8_Xq43lWm4XiqUTrSgmrrjtWYKnUOmm8G1DGsNHaCyjnFtpGMDDuBKWSasFK0aOtc14py8PPrOKX7fY1760WeDIcCEcZ97VTrKOykLWB3BLQTs_eTiksBsccJU2jOh8-V4zbnqdKdVV_iLe_gyLI7e3CvQR4FJMeeErp-THyEdes76u5T73yn3f1Luf6VcpM9Pn9gPI9q_wlOsBXhxAiAbCC7BZHz-h1NtrbUUPwERErHk</recordid><startdate>20040501</startdate><enddate>20040501</enddate><creator>DESOUZA, Rowena A</creator><creator>CARDENAS, Raul J</creator><creator>LINDLER, Tekisha U</creator><creator>DE LA FUENTE, Francisco A</creator><creator>MAYORQUIN, Francisco J</creator><creator>TROCHTENBERG, David S</creator><general>Lippincott Williams & Wilkins</general><general>Southern Medical Association</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20040501</creationdate><title>Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS): A mitochondrial disorder presents as fibromyalgia</title><author>DESOUZA, Rowena A ; CARDENAS, Raul J ; LINDLER, Tekisha U ; DE LA FUENTE, Francisco A ; MAYORQUIN, Francisco J ; TROCHTENBERG, David S</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c418t-e5f36a742912807effe084bf60e28a9ae7df018c5f0bebaffffd03d5367b9f943</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Care and treatment</topic><topic>Diagnosis</topic><topic>Diagnosis, Differential</topic><topic>Errors of metabolism</topic><topic>Female</topic><topic>Fibromyalgia</topic><topic>Fibromyalgia - diagnosis</topic><topic>Forecasts and trends</topic><topic>General aspects</topic><topic>Health care industry</topic><topic>Humans</topic><topic>Lactic Acid - blood</topic><topic>Lactic acidosis</topic><topic>Medical sciences</topic><topic>MELAS Syndrome - diagnosis</topic><topic>Metabolic diseases</topic><topic>Miscellaneous hereditary metabolic disorders</topic><topic>Mitochondrial diseases</topic><topic>Muscle, Skeletal - pathology</topic><topic>Pyruvic Acid - blood</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>DESOUZA, Rowena A</creatorcontrib><creatorcontrib>CARDENAS, Raul J</creatorcontrib><creatorcontrib>LINDLER, Tekisha U</creatorcontrib><creatorcontrib>DE LA FUENTE, Francisco A</creatorcontrib><creatorcontrib>MAYORQUIN, Francisco J</creatorcontrib><creatorcontrib>TROCHTENBERG, David S</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Southern medical journal (Birmingham, Ala.)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>DESOUZA, Rowena A</au><au>CARDENAS, Raul J</au><au>LINDLER, Tekisha U</au><au>DE LA FUENTE, Francisco A</au><au>MAYORQUIN, Francisco J</au><au>TROCHTENBERG, David S</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS): A mitochondrial disorder presents as fibromyalgia</atitle><jtitle>Southern medical journal (Birmingham, Ala.)</jtitle><addtitle>South Med J</addtitle><date>2004-05-01</date><risdate>2004</risdate><volume>97</volume><issue>5</issue><spage>528</spage><epage>531</epage><pages>528-531</pages><issn>0038-4348</issn><eissn>1541-8243</eissn><abstract>This case report describes a patient who presented with symptoms and signs of longstanding fibromyalgia. 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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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