کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
4161165 | 1274226 | 2015 | 4 صفحه PDF | دانلود رایگان |
• 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.
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.
Journal: Journal of Pediatric Surgery Case Reports - Volume 3, Issue 12, December 2015, Pages 566–569