Large Tubulovillous Rectal Mass Causing McKittrick-Wheelock Syndrome

CASE REPORT We present 2 unique clinical images and an accompanying histologic image from a 74-year-old woman with a severe case of McKittrick-Wheelock syndrome. She had no known medical history and presented with weakness, nausea, decreased oral intake, and clear rectal discharge. Laboratory results revealed hyponatremia (121 mmol/L), hypochloremia (80 mmol/L), hypokalemia (2.2 mmol/L), elevated blood urea nitrogen (47 mg/dL), normal creatinine (0.9 mg/dL), and elevated carcinoembryonic antigen (12.6 ng/mL). Digital rectal examination revealed reducible prolapse and a more than 10 cm nodular rectal mass, 3 cm from the anal verge (Figure 1A). Computed tomography of the abdomen and pelvis showed a distended rectum (9.2 cm × 8.8 cm) with mixed fluid and soft tissue concerning for a neoplasm. Colonoscopy showed multiple sessile polyps (in the cecum, ascending, and transverse colon) and a large and circumferential fungating mass in the rectum (Figure 1B). Pathology revealed tubular adenomas in the colon and a tubulovillous adenoma in the rectum (Figure 1C).Figure 1.: (A) Digital rectal examination revealed a nodular rectal mass measuring over 10 cm in diameter. (B) View of the nodular rectal mass before colonoscopy. (C) Hematoxylin and eosin stain at 200× magnification showing a tubulovillous adenoma with no evidence of invasion.Pelvic MRI showed internal sphincter involvement, indeterminate T stage, and N0. She was treated with fluids and underwent 2 transanal excisions. This case and set of images highlight the remarkable manifestations of McKittrick-Wheelock syndrome, a rare but potentially life-threatening syndrome associated with a large tubular and tubulovillous adenoma.1,2 DISCLOSURES Author contributions: Drafting manuscript: D. Zhao, B. Thakkar, TD Cunha, MT Nguyen, A. Potashinksy. Manuscript revision, intellectual revisions, mentorship: MT Nguyen, A. Potashinksy. Final approval: D. Zhao, B. Thakkar, TD Cunha, MT Nguyen, A. Potashinksy. D. Zhao is the article guarantor. Financial disclosure: None to report. Previous presentation: ACG 2024 Annual Scientific Meeting and Postgraduate Course; October 25–30, 2024; Philadelphia, PA. Abstract P0374. Informed consent was obtained for this case report.

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ACG Case Reports Journal
Published
2025-09-01
DOI
https://doi.org/10.14309/crj.0000000000001832
Primary Topic
Genetic factors in colorectal cancer
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article
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article

Large Tubulovillous Rectal Mass Causing McKittrick-Wheelock Syndrome

Minh Thu T. Nguyen, Teresa Da Cunha, Bianca Thakkar, Danzhu Zhao et al.
ACG Case Reports Journal
Genetic factors in colorectal cancer
article

Large Tubulovillous Rectal Mass Causing McKittrick-Wheelock Syndrome

Minh Thu T. Nguyen, Teresa Da Cunha, Bianca Thakkar, Danzhu Zhao, Alexander Potashinksy
article en

Abstract

CASE REPORT We present 2 unique clinical images and an accompanying histologic image from a 74-year-old woman with a severe case of McKittrick-Wheelock syndrome. She had no known medical history and presented with weakness, nausea, decreased oral intake, and clear rectal discharge. Laboratory results revealed hyponatremia (121 mmol/L), hypochloremia (80 mmol/L), hypokalemia (2.2 mmol/L), elevated blood urea nitrogen (47 mg/dL), normal creatinine (0.9 mg/dL), and elevated carcinoembryonic antigen (12.6 ng/mL). Digital rectal examination revealed reducible prolapse and a more than 10 cm nodular rectal mass, 3 cm from the anal verge (Figure 1A). Computed tomography of the abdomen and pelvis showed a distended rectum (9.2 cm × 8.8 cm) with mixed fluid and soft tissue concerning for a neoplasm. Colonoscopy showed multiple sessile polyps (in the cecum, ascending, and transverse colon) and a large and circumferential fungating mass in the rectum (Figure 1B). Pathology revealed tubular adenomas in the colon and a tubulovillous adenoma in the rectum (Figure 1C).Figure 1.: (A) Digital rectal examination revealed a nodular rectal mass measuring over 10 cm in diameter. (B) View of the nodular rectal mass before colonoscopy. (C) Hematoxylin and eosin stain at 200× magnification showing a tubulovillous adenoma with no evidence of invasion.Pelvic MRI showed internal sphincter involvement, indeterminate T stage, and N0. She was treated with fluids and underwent 2 transanal excisions. This case and set of images highlight the remarkable manifestations of McKittrick-Wheelock syndrome, a rare but potentially life-threatening syndrome associated with a large tubular and tubulovillous adenoma.1,2 DISCLOSURES Author contributions: Drafting manuscript: D. Zhao, B. Thakkar, TD Cunha, MT Nguyen, A. Potashinksy. Manuscript revision, intellectual revisions, mentorship: MT Nguyen, A. Potashinksy. Final approval: D. Zhao, B. Thakkar, TD Cunha, MT Nguyen, A. Potashinksy. D. Zhao is the article guarantor. Financial disclosure: None to report. Previous presentation: ACG 2024 Annual Scientific Meeting and Postgraduate Course; October 25–30, 2024; Philadelphia, PA. Abstract P0374. Informed consent was obtained for this case report.

ACG Case Reports JournalVol. 12(9)
University of Connecticut (US), The Hospital of Central Connecticut (US), UConn Health (US)
Openalex Percentile: Top 65%
Genetic factors in colorectal cancer
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