20th July 2023

A 15-year-old girl presents to her GP with an 18-month history of constipation

A 15-year-old girl presents to her GP with an 18-month history of constipation, only opening her bowels once every 4-5 days. In the last few weeks, she has also noticed some fresh red PR bleeding on defecation. She is otherwise well with no relevant past medical or family history. Abdominal examination reveals a distended but non tender abdomen with high pitched bowel sounds. On examining the oral mucosa, the GP notices some dark spots on her lips and buccal mucosa. She undergoes upper GI endoscopy and colonoscopy which reveal numerous polyps in her small bowel and large bowel.

What is the most likely diagnosis?

Select the SINGLE most appropriate option from the list below. Select ONE option only.