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Article

Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: an insight on the pathophysiology of the association.

Pediatric pulmonology - 1 Aug 2011

Joseph Leon, Goldberg Shmuel, Shahroor Sarit, Gomori Moshe, Mimouni Francis B, Picard Elie

Abstract excerpt

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....

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PMID: 21465679
DOI: 10.1002/ppul.21450

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