Altered mental status as a presentation of juvenile polyposis syndrome

Autor: Natasha Hansraj, Anca Safta, Samuel M. Alaish
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Zdroj: Journal of Pediatric Surgery Case Reports, Vol 3, Iss 12, Pp 566-569 (2015)
Druh dokumentu: article
ISSN: 2213-5766
DOI: 10.1016/j.epsc.2015.09.014
Popis: Juvenile polyposis coli (JPC) is a rare hereditary disorder in which patients have multiple polyps in the gastrointestinal tract and present most commonly with hematochezia. We describe a 4-year-old with intermittent rectal prolapse presenting with altered mental status and headaches. JPC was diagnosed by the presence of multiple, pedunculated, colonic polyps on colonoscopy; his altered mental status resulted from cerebral venous sinus thrombosis. Although JPC is known to be associated with a protein losing enteropathy (PLE), this usually manifests as merely hypoalbuminemia and protein losses without major clinical sequelae. We present a rare complication of cerebral venous sinus thrombosis which highlights altered mental status as a rare presentation of JPC. To our knowledge, this is the first case report in the literature linking JPC, decreased protein S activity, a single mutation in the methylenetetrahydrofolate reductase gene and cerebral thrombosis.
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