Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: An insight on the pathophysiology of the association
Congenital central hypoventilation syndrome (CCHS) is an increasingly recognized diagnosis causing central hypoventilation and may be definitively diagnosed by genetic testing. Previous authors reported the association between CCHS and central sinus venous thrombosis (CSVT) and hypothesized that CCH...
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| Veröffentlicht in: | Pediatric pulmonology 2011-08, Vol.46 (8), p.826-828 |
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| creator | Joseph, Leon Goldberg, Shmuel Shahroor, Sarit Gomori, Moshe Mimouni, Francis B. Picard, Elie |
| description | Congenital central hypoventilation syndrome (CCHS) is an increasingly recognized diagnosis causing central hypoventilation and may be definitively diagnosed by genetic testing. Previous authors reported the association between CCHS and central sinus venous thrombosis (CSVT) and hypothesized that CCHS could be secondary to CSVT. We report a case of CCHS with the typical PHOX2B mutation who also suffered from CSVT. We assume that effects, secondary to CCHS, upon the central venous system may explain the etiological connection between CSVT and CCHS including dysautoregulation, venous stasis or polycythemia. We believe that CCHS should be included in the differential diagnosis of patients with CSVT accompanied by respiratory abnormalities. Pediatr. Pulmonol. 2011; 46:826–828. © 2011 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ppul.21450 |
| format | Article |
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Previous authors reported the association between CCHS and central sinus venous thrombosis (CSVT) and hypothesized that CCHS could be secondary to CSVT. We report a case of CCHS with the typical PHOX2B mutation who also suffered from CSVT. We assume that effects, secondary to CCHS, upon the central venous system may explain the etiological connection between CSVT and CCHS including dysautoregulation, venous stasis or polycythemia. We believe that CCHS should be included in the differential diagnosis of patients with CSVT accompanied by respiratory abnormalities. Pediatr. 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Miscellaneous ; Exons ; General aspects ; Homeodomain Proteins - genetics ; Humans ; Hypoventilation - congenital ; Hypoventilation - diagnosis ; Hypoventilation - genetics ; Hypoventilation - physiopathology ; Hypoventilation - therapy ; Infant ; Male ; Medical sciences ; Mutation ; Pneumology ; Pulmonary Artery - physiopathology ; Respiration, Artificial ; Sinus Thrombosis, Intracranial - diagnosis ; Sinus Thrombosis, Intracranial - genetics ; Sinus Thrombosis, Intracranial - physiopathology ; Sinus Thrombosis, Intracranial - therapy ; sinus venous ; Sleep Apnea, Central - diagnosis ; Sleep Apnea, Central - genetics ; Sleep Apnea, Central - physiopathology ; Sleep Apnea, Central - therapy ; thrombosis ; Transcription Factors - genetics</subject><ispartof>Pediatric pulmonology, 2011-08, Vol.46 (8), p.826-828</ispartof><rights>Copyright © 2011 Wiley‐Liss, Inc.</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2011 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3580-9ab59481ce7d25d634b79c2ccc93321e0d155523873e7ad944acd101742ef0653</citedby><cites>FETCH-LOGICAL-c3580-9ab59481ce7d25d634b79c2ccc93321e0d155523873e7ad944acd101742ef0653</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fppul.21450$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fppul.21450$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27903,27904,45553,45554</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24358578$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21465679$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Joseph, Leon</creatorcontrib><creatorcontrib>Goldberg, Shmuel</creatorcontrib><creatorcontrib>Shahroor, Sarit</creatorcontrib><creatorcontrib>Gomori, Moshe</creatorcontrib><creatorcontrib>Mimouni, Francis B.</creatorcontrib><creatorcontrib>Picard, Elie</creatorcontrib><title>Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: An insight on the pathophysiology of the association</title><title>Pediatric pulmonology</title><addtitle>Pediatr Pulmonol</addtitle><description>Congenital central hypoventilation syndrome (CCHS) is an increasingly recognized diagnosis causing central hypoventilation and may be definitively diagnosed by genetic testing. Previous authors reported the association between CCHS and central sinus venous thrombosis (CSVT) and hypothesized that CCHS could be secondary to CSVT. We report a case of CCHS with the typical PHOX2B mutation who also suffered from CSVT. We assume that effects, secondary to CCHS, upon the central venous system may explain the etiological connection between CSVT and CCHS including dysautoregulation, venous stasis or polycythemia. We believe that CCHS should be included in the differential diagnosis of patients with CSVT accompanied by respiratory abnormalities. Pediatr. Pulmonol. 2011; 46:826–828. © 2011 Wiley‐Liss, Inc.</description><subject>Biological and medical sciences</subject><subject>Blood and lymphatic vessels</subject><subject>Cardiology. Vascular system</subject><subject>congenital central hypoventilation syndrome</subject><subject>Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous</subject><subject>Exons</subject><subject>General aspects</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>Hypoventilation - congenital</subject><subject>Hypoventilation - diagnosis</subject><subject>Hypoventilation - genetics</subject><subject>Hypoventilation - physiopathology</subject><subject>Hypoventilation - therapy</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Pneumology</subject><subject>Pulmonary Artery - physiopathology</subject><subject>Respiration, Artificial</subject><subject>Sinus Thrombosis, Intracranial - diagnosis</subject><subject>Sinus Thrombosis, Intracranial - genetics</subject><subject>Sinus Thrombosis, Intracranial - physiopathology</subject><subject>Sinus Thrombosis, Intracranial - therapy</subject><subject>sinus venous</subject><subject>Sleep Apnea, Central - diagnosis</subject><subject>Sleep Apnea, Central - genetics</subject><subject>Sleep Apnea, Central - physiopathology</subject><subject>Sleep Apnea, Central - therapy</subject><subject>thrombosis</subject><subject>Transcription Factors - genetics</subject><issn>8755-6863</issn><issn>1099-0496</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp90d2K1DAUB_Agijuu3vgAkhsRhK5J2zSJd8viFwy4oHtdMunpNJJJak67S9_DBzYzHfXOqwPJ75xD8ifkJWdXnLHy3TjO_qrktWCPyIYzrQtW6-Yx2SgpRNGoprogzxB_MJbvNH9KLjJuRCP1hvz65sKM9B5coNOQ4mEX0SE1SMcECGFyYU97F7pjPRmgNoY9BDcZT20WKddhGeP9UXszuRgoLqHLw-A9vQ65Dd1-mGhc20czDXEcFnTRx_1CY386NojRulP7c_KkNx7hxblekruPH77ffC62Xz99ubneFrYSihXa7ISuFbcgu1J0TVXvpLaltVZXVcmBdVwIUVZKViBNp-va2I4zLusSetaI6pK8WeeOKf6cAaf24NCC9yZAnLFVslFCaVlm-XaVNkXEBH07JncwaWk5a48htMcQ2lMIGb86j513B-j-0j-_nsHrMzBoje-TCdbhP1fn5wmpsuOre3Aelv-sbG9v77br8t_xeKK2</recordid><startdate>201108</startdate><enddate>201108</enddate><creator>Joseph, Leon</creator><creator>Goldberg, Shmuel</creator><creator>Shahroor, Sarit</creator><creator>Gomori, Moshe</creator><creator>Mimouni, Francis B.</creator><creator>Picard, Elie</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley-Liss</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>201108</creationdate><title>Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: An insight on the pathophysiology of the association</title><author>Joseph, Leon ; Goldberg, Shmuel ; Shahroor, Sarit ; Gomori, Moshe ; Mimouni, Francis B. ; Picard, Elie</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3580-9ab59481ce7d25d634b79c2ccc93321e0d155523873e7ad944acd101742ef0653</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Biological and medical sciences</topic><topic>Blood and lymphatic vessels</topic><topic>Cardiology. Vascular system</topic><topic>congenital central hypoventilation syndrome</topic><topic>Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous</topic><topic>Exons</topic><topic>General aspects</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>Hypoventilation - congenital</topic><topic>Hypoventilation - diagnosis</topic><topic>Hypoventilation - genetics</topic><topic>Hypoventilation - physiopathology</topic><topic>Hypoventilation - therapy</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Pneumology</topic><topic>Pulmonary Artery - physiopathology</topic><topic>Respiration, Artificial</topic><topic>Sinus Thrombosis, Intracranial - diagnosis</topic><topic>Sinus Thrombosis, Intracranial - genetics</topic><topic>Sinus Thrombosis, Intracranial - physiopathology</topic><topic>Sinus Thrombosis, Intracranial - therapy</topic><topic>sinus venous</topic><topic>Sleep Apnea, Central - diagnosis</topic><topic>Sleep Apnea, Central - genetics</topic><topic>Sleep Apnea, Central - physiopathology</topic><topic>Sleep Apnea, Central - therapy</topic><topic>thrombosis</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Joseph, Leon</creatorcontrib><creatorcontrib>Goldberg, Shmuel</creatorcontrib><creatorcontrib>Shahroor, Sarit</creatorcontrib><creatorcontrib>Gomori, Moshe</creatorcontrib><creatorcontrib>Mimouni, Francis B.</creatorcontrib><creatorcontrib>Picard, Elie</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>Pediatric pulmonology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Joseph, Leon</au><au>Goldberg, Shmuel</au><au>Shahroor, Sarit</au><au>Gomori, Moshe</au><au>Mimouni, Francis B.</au><au>Picard, Elie</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: An insight on the pathophysiology of the association</atitle><jtitle>Pediatric pulmonology</jtitle><addtitle>Pediatr Pulmonol</addtitle><date>2011-08</date><risdate>2011</risdate><volume>46</volume><issue>8</issue><spage>826</spage><epage>828</epage><pages>826-828</pages><issn>8755-6863</issn><eissn>1099-0496</eissn><coden>PEPUES</coden><abstract>Congenital central hypoventilation syndrome (CCHS) is an increasingly recognized diagnosis causing central hypoventilation and may be definitively diagnosed by genetic testing. Previous authors reported the association between CCHS and central sinus venous thrombosis (CSVT) and hypothesized that CCHS could be secondary to CSVT. We report a case of CCHS with the typical PHOX2B mutation who also suffered from CSVT. We assume that effects, secondary to CCHS, upon the central venous system may explain the etiological connection between CSVT and CCHS including dysautoregulation, venous stasis or polycythemia. We believe that CCHS should be included in the differential diagnosis of patients with CSVT accompanied by respiratory abnormalities. Pediatr. Pulmonol. 2011; 46:826–828. © 2011 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>21465679</pmid><doi>10.1002/ppul.21450</doi><tpages>3</tpages></addata></record> |
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| subjects | Biological and medical sciences Blood and lymphatic vessels Cardiology. Vascular system congenital central hypoventilation syndrome Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous Exons General aspects Homeodomain Proteins - genetics Humans Hypoventilation - congenital Hypoventilation - diagnosis Hypoventilation - genetics Hypoventilation - physiopathology Hypoventilation - therapy Infant Male Medical sciences Mutation Pneumology Pulmonary Artery - physiopathology Respiration, Artificial Sinus Thrombosis, Intracranial - diagnosis Sinus Thrombosis, Intracranial - genetics Sinus Thrombosis, Intracranial - physiopathology Sinus Thrombosis, Intracranial - therapy sinus venous Sleep Apnea, Central - diagnosis Sleep Apnea, Central - genetics Sleep Apnea, Central - physiopathology Sleep Apnea, Central - therapy thrombosis Transcription Factors - genetics |
| title | Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: An insight on the pathophysiology of the association |
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