Congenital methaemoglobinaemia diagnosed in an adolescent boy
A 14-year-old boy of Asian origin presented with a history of bluish discolouration of the finger and toenail bed with associated mild fatiguability on exertion since early childhood. Clinical examination revealed bilaterally symmetric uniform central cyanosis with no associated clubbing. Cardiovasc...
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| description | A 14-year-old boy of Asian origin presented with a history of bluish discolouration of the finger and toenail bed with associated mild fatiguability on exertion since early childhood. Clinical examination revealed bilaterally symmetric uniform central cyanosis with no associated clubbing. Cardiovascular and respiratory system examination was normal. Pulse oximetry revealed an oxygen saturation of 87% in all four limbs. Transthoracic and transoesophageal echocardiography showed no evidence of shunt lesions. In view of the past diagnosis of pulmonary arteriovenous fistulae made at 4 years of age, a repeat cardiac catheterisation study was done, which revealed no shunt at any level. Interestingly, arterial oxygen tension of the chocolate-brown blood was normal in all the samples, suggesting the possibility of methaemoglobinaemia. Co-oximetry revealed methaemoglobin levels of 36%, confirming the diagnosis. Secondary causes were ruled out. The family was counselled about the hereditary nature of the condition. |
| doi_str_mv | 10.1136/bcr-2018-228470 |
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Clinical examination revealed bilaterally symmetric uniform central cyanosis with no associated clubbing. Cardiovascular and respiratory system examination was normal. Pulse oximetry revealed an oxygen saturation of 87% in all four limbs. Transthoracic and transoesophageal echocardiography showed no evidence of shunt lesions. In view of the past diagnosis of pulmonary arteriovenous fistulae made at 4 years of age, a repeat cardiac catheterisation study was done, which revealed no shunt at any level. Interestingly, arterial oxygen tension of the chocolate-brown blood was normal in all the samples, suggesting the possibility of methaemoglobinaemia. Co-oximetry revealed methaemoglobin levels of 36%, confirming the diagnosis. Secondary causes were ruled out. The family was counselled about the hereditary nature of the condition.</description><identifier>ISSN: 1757-790X</identifier><identifier>EISSN: 1757-790X</identifier><identifier>DOI: 10.1136/bcr-2018-228470</identifier><identifier>PMID: 30936348</identifier><language>eng</language><publisher>England: BMJ Publishing Group LTD</publisher><subject>Acids ; Adolescent ; Age ; Antioxidants - therapeutic use ; Ascorbic Acid - therapeutic use ; Blood Gas Analysis ; Cardiac Catheterization ; Case reports ; Color ; Congenital diseases ; Cyanosis - etiology ; Cytochrome ; Directive Counseling ; Fatigue ; Genetic Testing ; Heart ; Hemoglobin ; Humans ; Lungs ; Male ; Medical diagnosis ; Methemoglobin - metabolism ; Methemoglobinemia - congenital ; Methemoglobinemia - diagnosis ; Methemoglobinemia - drug therapy ; Nails, Malformed - pathology ; Nitrates ; Oximetry ; Rare Disease ; Teenagers ; Treatment Outcome</subject><ispartof>BMJ case reports, 2019-03, Vol.12 (3), p.e228470</ispartof><rights>BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.</rights><rights>2019 BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ.</rights><rights>BMJ Publishing Group Limited 2019. No commercial re-use. See rights and permissions. Published by BMJ. 2019</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b456t-1aa7f26263e48f33c02eb8f13fc2306d2929b0acdb2bf5fe15314589e05f7a913</citedby><cites>FETCH-LOGICAL-b456t-1aa7f26263e48f33c02eb8f13fc2306d2929b0acdb2bf5fe15314589e05f7a913</cites><orcidid>0000-0002-9247-0709</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453343/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6453343/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,728,781,785,886,27929,27930,53796,53798</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30936348$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Paul, Amal</creatorcontrib><creatorcontrib>Chacko, Sujith Thomas</creatorcontrib><title>Congenital methaemoglobinaemia diagnosed in an adolescent boy</title><title>BMJ case reports</title><addtitle>BMJ Case Rep</addtitle><description>A 14-year-old boy of Asian origin presented with a history of bluish discolouration of the finger and toenail bed with associated mild fatiguability on exertion since early childhood. Clinical examination revealed bilaterally symmetric uniform central cyanosis with no associated clubbing. Cardiovascular and respiratory system examination was normal. Pulse oximetry revealed an oxygen saturation of 87% in all four limbs. Transthoracic and transoesophageal echocardiography showed no evidence of shunt lesions. In view of the past diagnosis of pulmonary arteriovenous fistulae made at 4 years of age, a repeat cardiac catheterisation study was done, which revealed no shunt at any level. Interestingly, arterial oxygen tension of the chocolate-brown blood was normal in all the samples, suggesting the possibility of methaemoglobinaemia. Co-oximetry revealed methaemoglobin levels of 36%, confirming the diagnosis. Secondary causes were ruled out. The family was counselled about the hereditary nature of the condition.</description><subject>Acids</subject><subject>Adolescent</subject><subject>Age</subject><subject>Antioxidants - therapeutic use</subject><subject>Ascorbic Acid - therapeutic use</subject><subject>Blood Gas Analysis</subject><subject>Cardiac Catheterization</subject><subject>Case reports</subject><subject>Color</subject><subject>Congenital diseases</subject><subject>Cyanosis - etiology</subject><subject>Cytochrome</subject><subject>Directive Counseling</subject><subject>Fatigue</subject><subject>Genetic Testing</subject><subject>Heart</subject><subject>Hemoglobin</subject><subject>Humans</subject><subject>Lungs</subject><subject>Male</subject><subject>Medical diagnosis</subject><subject>Methemoglobin - metabolism</subject><subject>Methemoglobinemia - congenital</subject><subject>Methemoglobinemia - diagnosis</subject><subject>Methemoglobinemia - drug therapy</subject><subject>Nails, Malformed - pathology</subject><subject>Nitrates</subject><subject>Oximetry</subject><subject>Rare Disease</subject><subject>Teenagers</subject><subject>Treatment Outcome</subject><issn>1757-790X</issn><issn>1757-790X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkc1LAzEQxYMottSevcmCFxHWJpnNfhwUpPgFBS8K3kKym7Qpu0ndbIX-92ZpLdWLIZCB-eXNPB5C5wTfEALpRJZtTDHJY0rzJMNHaEgylsVZgT-OD-oBGnu_xOEASfIETtEAcAEpJPkQ3U6dnStrOlFHjeoWQjVuXjtpbKiMiCoj5tZ5VUXGRiLcytXKl8p2kXSbM3SiRe3VePeO0Pvjw9v0OZ69Pr1M72exTFjaxUSITNOUpqCSXAOUmCqZawK6pIDTiha0kFiUlaRSM60IC5uyvFCY6UwUBEbobqu7WstGVf34VtR81ZpGtBvuhOG_O9Ys-Nx98TRhAAkEgaudQOs-18p3vDHBRV0Lq9zac0oxJQWDrEcv_6BLt25tsNdThJGUQRGoyZYqW-d9q_R-GYJ5nw4P6fA-Hb5NJ_y4OPSw53-yCMD1FpDN8l-1b0rll-0</recordid><startdate>20190301</startdate><enddate>20190301</enddate><creator>Paul, Amal</creator><creator>Chacko, Sujith Thomas</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><orcidid>https://orcid.org/0000-0002-9247-0709</orcidid></search><sort><creationdate>20190301</creationdate><title>Congenital methaemoglobinaemia diagnosed in an adolescent boy</title><author>Paul, Amal ; Chacko, Sujith Thomas</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b456t-1aa7f26263e48f33c02eb8f13fc2306d2929b0acdb2bf5fe15314589e05f7a913</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>Acids</topic><topic>Adolescent</topic><topic>Age</topic><topic>Antioxidants - therapeutic use</topic><topic>Ascorbic Acid - therapeutic use</topic><topic>Blood Gas Analysis</topic><topic>Cardiac Catheterization</topic><topic>Case reports</topic><topic>Color</topic><topic>Congenital diseases</topic><topic>Cyanosis - etiology</topic><topic>Cytochrome</topic><topic>Directive Counseling</topic><topic>Fatigue</topic><topic>Genetic Testing</topic><topic>Heart</topic><topic>Hemoglobin</topic><topic>Humans</topic><topic>Lungs</topic><topic>Male</topic><topic>Medical diagnosis</topic><topic>Methemoglobin - metabolism</topic><topic>Methemoglobinemia - congenital</topic><topic>Methemoglobinemia - diagnosis</topic><topic>Methemoglobinemia - drug therapy</topic><topic>Nails, Malformed - pathology</topic><topic>Nitrates</topic><topic>Oximetry</topic><topic>Rare Disease</topic><topic>Teenagers</topic><topic>Treatment Outcome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Paul, Amal</creatorcontrib><creatorcontrib>Chacko, Sujith Thomas</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>Nursing & Allied Health Database</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>Paul, Amal</au><au>Chacko, Sujith Thomas</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Congenital methaemoglobinaemia diagnosed in an adolescent boy</atitle><jtitle>BMJ case reports</jtitle><addtitle>BMJ Case Rep</addtitle><date>2019-03-01</date><risdate>2019</risdate><volume>12</volume><issue>3</issue><spage>e228470</spage><pages>e228470-</pages><issn>1757-790X</issn><eissn>1757-790X</eissn><abstract>A 14-year-old boy of Asian origin presented with a history of bluish discolouration of the finger and toenail bed with associated mild fatiguability on exertion since early childhood. Clinical examination revealed bilaterally symmetric uniform central cyanosis with no associated clubbing. Cardiovascular and respiratory system examination was normal. Pulse oximetry revealed an oxygen saturation of 87% in all four limbs. Transthoracic and transoesophageal echocardiography showed no evidence of shunt lesions. In view of the past diagnosis of pulmonary arteriovenous fistulae made at 4 years of age, a repeat cardiac catheterisation study was done, which revealed no shunt at any level. Interestingly, arterial oxygen tension of the chocolate-brown blood was normal in all the samples, suggesting the possibility of methaemoglobinaemia. Co-oximetry revealed methaemoglobin levels of 36%, confirming the diagnosis. Secondary causes were ruled out. The family was counselled about the hereditary nature of the condition.</abstract><cop>England</cop><pub>BMJ Publishing Group LTD</pub><pmid>30936348</pmid><doi>10.1136/bcr-2018-228470</doi><orcidid>https://orcid.org/0000-0002-9247-0709</orcidid><oa>free_for_read</oa></addata></record> |
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| subjects | Acids Adolescent Age Antioxidants - therapeutic use Ascorbic Acid - therapeutic use Blood Gas Analysis Cardiac Catheterization Case reports Color Congenital diseases Cyanosis - etiology Cytochrome Directive Counseling Fatigue Genetic Testing Heart Hemoglobin Humans Lungs Male Medical diagnosis Methemoglobin - metabolism Methemoglobinemia - congenital Methemoglobinemia - diagnosis Methemoglobinemia - drug therapy Nails, Malformed - pathology Nitrates Oximetry Rare Disease Teenagers Treatment Outcome |
| title | Congenital methaemoglobinaemia diagnosed in an adolescent boy |
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