Juvenile polyposis syndrome Quiz: Ace Your Exams
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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:
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?
| 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?
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