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Case Reports
. 2022 Mar 22;14(3):e23389.
doi: 10.7759/cureus.23389. eCollection 2022 Mar.

A Rare Case of Juvenile Polyposis Syndrome Mimicking Ménétrier's Disease

Michelle Bernshteyn  1 , Abdul Q Bhutta  2 , Jozsef Bordas  3 , Rohin Mehta  3 , Muhammad Osman Arif  2
Affiliations
Case Reports

A Rare Case of Juvenile Polyposis Syndrome Mimicking Ménétrier's Disease

Michelle Bernshteyn et al. Cureus. .

Abstract

There is a wide differential diagnosis within polyposis syndromes. Our case represents an interesting and diagnostically challenging diagnosis involving a 41-year-old male who presented with an incidental gastric mass on imaging and a colonic mass seen on colonoscopy. Following multiple endoscopic evaluations, histological analysis, and genetic testing, the patient was ultimately diagnosed with juvenile polyposis syndrome (JPS)/hereditary hemorrhagic telangiectasia (HHT) despite the initial suspicion for Ménétrier's disease. His disease course was complicated by an acute upper extremity thrombus and diagnosis of colorectal carcinoma. This case highlights the importance of a thorough evaluation when polyposis syndromes are suspected. Prompt and accurate diagnosis can aid in the treatment, surveillance, and prevention of colorectal carcinoma.

Keywords: colorectal cancer; gastroenterology and endoscopy; gastrointestinal polyposis; gi polyposis syndrome; juvenile polyposis syndrome; menetrier's disease; polyposis; protein-losing enteropathy; upper extremity deep venous thrombosis; colonoscopy.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Large fungating and ulcerated masses demonstrated in the gastric body
Figure 2
Figure 2. Middle third of the esophagus, prior to cetuximab therapy, demonstrating a mass (arrow)
Figure 3
Figure 3. Immunochemical staining of a gastric polyp biopsy demonstrating glandular dilation suggestive of Ménétrier's disease (arrow)
Figure 4
Figure 4. Immunochemical staining of a gastric polyp biopsy demonstrating elongated and tortuous gastric pits suggestive of Ménétrier's disease (arrows)
Figure 5
Figure 5. Second portion of the duodenum on follow-up endoscopy demonstrating progression (arrow)
Figure 6
Figure 6. Polyp of the sigmoid colon demonstrated on colonoscopy
Figure 7
Figure 7. Invasive well-differentiated adenocarcinoma, arising in a tubulovillous adenoma from the sigmoid colon (arrow)
See this image and copyright information in PMC

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