Altered mental status as a presentation of juvenile polyposis syndrome

Natasha Hansraj, Anca Safta, Samuel M. Alaish

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)566-569
Number of pages4
JournalJournal of Pediatric Surgery Case Reports
Volume3
Issue number12
DOIs
StatePublished - Dec 2015

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Keywords

  • Gastrointestinal hemorrhage
  • Hypoalbuminemia
  • Intracranial sinus thrombosis
  • Juvenile polyposis syndrome
  • Protein losing enteropathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Surgery

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