Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)
A 26-year-old man presented to the emergency department with new-onset generalised tonic–clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history add...
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| Veröffentlicht in: | BMJ case reports 2017-02, Vol.2017, p.bcr2016218133 |
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| creator | David, Jasna Okiro, Julie Omolola Murphy, Kevin Elamin, Marwa |
| description | A 26-year-old man presented to the emergency department with new-onset generalised tonic–clonic seizures. His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. |
| doi_str_mv | 10.1136/bcr-2016-218133 |
| format | Article |
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His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. 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His clinical picture suggested either autoimmune or infectious encephalitis while his brain imaging raised the possibility of a stroke. A detailed developmental and childhood medical history added suspicion of a mitochondrial defect to the differential. After several molecular genetic analyses, an uncommon mitochondrial mutation was confirmed, unequivocally consistent with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome.</description><subject>Acidosis</subject><subject>Adult</subject><subject>Antibodies</subject><subject>Atrophy</subject><subject>Convulsions & seizures</subject><subject>Cytomegalovirus</subject><subject>DNA Mutational Analysis</subject><subject>DNA, Mitochondrial</subject><subject>Electron Transport Complex I - genetics</subject><subject>Encephalitis</subject><subject>Europe (West)</subject><subject>Humans</subject><subject>Ischemia</subject><subject>Kinases</subject><subject>Male</subject><subject>MELAS Syndrome - diagnosis</subject><subject>MELAS Syndrome - genetics</subject><subject>Mitochondrial DNA</subject><subject>Mitochondrial Proteins - genetics</subject><subject>Mutation</subject><subject>Pathogens</subject><subject>Proteins</subject><subject>Rare Disease</subject><subject>Stroke</subject><subject>Suicides & suicide attempts</subject><subject>Thyroid gland</subject><subject>White</subject><issn>1757-790X</issn><issn>1757-790X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkc9LHDEYhoMoKqtnbzLgRUtH82MyyV4KImoLWzy0Qm8hk3zjZp1JpsmMsP99s6wV66W55IU8efk-HoROCL4khNVXjYklxaQuKZGEsR10SAQXpZjjX7vv8gE6TmmF82GkkhXbRwdU0opKTA9R--hN6Pvgi34a9ehycDm7MZhl8DY63RXgDQxL3YV-HQY9Ltefi06b0ZlCG2dDcqnQ3hZpjOEZys49QwGDS8FCKs6_3y6uf1wcob1WdwmOX-8Zery7_XnztVw83H-7uV6UDaOclcJwm4dsqeGmBm44a6TVLUAtKRaSNITUpCK8bls8b6ylnOPG1nMJrRUWSzZDX7a9w9T0YA34MepODdH1Oq5V0E79--LdUj2FF8UZEzXjueD8tSCG3xOkUfUuGeg67SFMSREpqBQVq1hGzz6gqzBFn9fbUBWuCM7YDF1tKRNDShHat2EIVhuNKmtUG41qqzH_OH2_wxv_V1oGPm2Bpl_9t-0PrbumxQ</recordid><startdate>20170227</startdate><enddate>20170227</enddate><creator>David, Jasna</creator><creator>Okiro, Julie Omolola</creator><creator>Murphy, Kevin</creator><creator>Elamin, Marwa</creator><general>BMJ Publishing Group LTD</general><general>BMJ Publishing Group</general><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>3V.</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20170227</creationdate><title>Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)</title><author>David, Jasna ; Okiro, Julie Omolola ; Murphy, Kevin ; Elamin, Marwa</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b3253-7c5d314f2c5c6e5c53b8dafee6820781b11614156ff09bdd2550bd698efd7d083</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Acidosis</topic><topic>Adult</topic><topic>Antibodies</topic><topic>Atrophy</topic><topic>Convulsions & seizures</topic><topic>Cytomegalovirus</topic><topic>DNA Mutational Analysis</topic><topic>DNA, Mitochondrial</topic><topic>Electron Transport Complex I - genetics</topic><topic>Encephalitis</topic><topic>Europe (West)</topic><topic>Humans</topic><topic>Ischemia</topic><topic>Kinases</topic><topic>Male</topic><topic>MELAS Syndrome - diagnosis</topic><topic>MELAS Syndrome - genetics</topic><topic>Mitochondrial DNA</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Mutation</topic><topic>Pathogens</topic><topic>Proteins</topic><topic>Rare Disease</topic><topic>Stroke</topic><topic>Suicides & suicide attempts</topic><topic>Thyroid gland</topic><topic>White</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>David, Jasna</creatorcontrib><creatorcontrib>Okiro, Julie Omolola</creatorcontrib><creatorcontrib>Murphy, Kevin</creatorcontrib><creatorcontrib>Elamin, Marwa</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Proquest Nursing & Allied Health Source</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>BMJ case reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>David, Jasna</au><au>Okiro, Julie Omolola</au><au>Murphy, Kevin</au><au>Elamin, Marwa</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)</atitle><jtitle>BMJ case reports</jtitle><addtitle>BMJ Case Rep</addtitle><date>2017-02-27</date><risdate>2017</risdate><volume>2017</volume><spage>bcr2016218133</spage><pages>bcr2016218133-</pages><issn>1757-790X</issn><eissn>1757-790X</eissn><abstract>A 26-year-old man presented to the emergency department with new-onset generalised tonic–clonic seizures. 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| subjects | Acidosis Adult Antibodies Atrophy Convulsions & seizures Cytomegalovirus DNA Mutational Analysis DNA, Mitochondrial Electron Transport Complex I - genetics Encephalitis Europe (West) Humans Ischemia Kinases Male MELAS Syndrome - diagnosis MELAS Syndrome - genetics Mitochondrial DNA Mitochondrial Proteins - genetics Mutation Pathogens Proteins Rare Disease Stroke Suicides & suicide attempts Thyroid gland White |
| title | Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) |
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