Assessment of Colorectal polyps: Video, Anatomy & Definition | Osmosis

Question

A 5-year-old boy is brought to the physician by his mother due to excessive fatigue over the past 2 months. The mother has occasionally noticed blood in the toilet bowl after the patient defecates. There is no significant family history of cancers. The patient's temperature is 37.0°C (98.6°F), pulse is 96/min, and blood pressure is 110/70 mmHg. Physical examination shows conjunctival pallor. No abnormal skin pigmentation is noted. Laboratory results are as follows:

Laboratory Value	Result
Hemoglobin	9.7 g/dL
Hematocrit	35%
Mean corpuscular volume (MCV)	74 μm3

Colonoscopy is performed and reveals seven polyps throughout the gastrointestinal tract; subsequent biopsy reveals hamartomatous mucosal polyps. Genetic testing is performed and reveals a mutation in the BMPR1A gene. Which of the following is the most likely diagnosis in this patient?

Accepted Answer

Juvenile polyposis syndrome

Answer

Peutz-Jegher syndrome

Answer

Familial adenomatous polyposis

Answer

Lynch syndrome

Answer

Cronkhite-Canada syndrome

Questions or feedback?

Colorectal polyps

Pathology

Gastrointestinal system