Altered mental status as a presentation of juvenile polyposis syndrome

摘要

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. Highlights ? JPC exhibits multiple polyps in the GI tract, commonly presenting with hematochezia. ? Protein losing enteropathy with hypoalbuminemia can occur in JPC, although not common. ? Protein S loss from malabsorption, along with MHTFR leads to sinus thrombosis. ? Refractory protein loss, malabsorption and hematochezia warrant subtotal colectomy. ? Prompt anticoagulation and treatment of malabsorption leads to no neurological sequelae.