title: Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: an insight on the pathophysiology of the association.
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.
authors.affiliation: Pediatric Pulmonology Unit, Shaare Zedek Medical Center (affiliated to The Hebrew University, School of Medicine), Jerusalem, Israel.
authors.forename: Leon
authors.initials: L
authors.lastname: Joseph
authors.forename: Shmuel
authors.initials: S
authors.lastname: Goldberg
authors.forename: Sarit
authors.initials: S
authors.lastname: Shahroor
authors.forename: Moshe
authors.initials: M
authors.lastname: Gomori
authors.forename: Francis B
authors.initials: FB
authors.lastname: Mimouni
authors.forename: Elie
authors.initials: E
authors.lastname: Picard
mesh_terms: D005091:Exons; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D007223:Infant; D008297:Male; D009154:Mutation; D011651:Pulmonary Artery / Q000503:physiopathology; D012121:Respiration, Artificial; D012851:Sinus Thrombosis, Intracranial / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors