Abstract
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.
Original language | English (US) |
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Pages (from-to) | 566-569 |
Number of pages | 4 |
Journal | Journal of Pediatric Surgery Case Reports |
Volume | 3 |
Issue number | 12 |
DOIs | |
State | Published - Dec 2015 |
Externally published | Yes |
Keywords
- Gastrointestinal hemorrhage
- Hypoalbuminemia
- Intracranial sinus thrombosis
- Juvenile polyposis syndrome
- Protein losing enteropathy
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Surgery