| Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: An insight on the pathophysiology of the association. | |
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MedLine Citation:
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PMID: 21465679 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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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 Wiley-Liss, Inc. |
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Authors:
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Leon Joseph; Shmuel Goldberg; Sarit Shahroor; Moshe Gomori; Francis B Mimouni; Elie Picard |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-4-4 |
Journal Detail:
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Title: Pediatric pulmonology Volume: - ISSN: 1099-0496 ISO Abbreviation: - Publication Date: 2011 Apr |
Date Detail:
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Created Date: 2011-4-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8510590 Medline TA: Pediatr Pulmonol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Pediatric Pulmonology Unit, Shaare Zedek Medical Center (affiliated to The Hebrew University, School of Medicine), Jerusalem, Israel. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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