Polyps and inherited gastrointestinal cancer syndromes: Case

This girl's combination of periumbilical cramping pain, iron-deficiency anaemia, characteristic mucocutaneous pigmentation, a palpable abdominal mass, and a striking family history of early pancreatic and breast cancer makes Peutz-Jeghers syndrome the unifying diagnosis. The dark macules on her lips, buccal mucosa, and fingers are the syndrome's signature, and their fading in late childhood does not lessen the cancer risk. The family history fits the broad, high extraintestinal cancer burden that defines this condition. [1]

Clinical findings

The clinical picture is one of symptomatic Peutz-Jeghers small-bowel disease. The cramping central pain and the palpable periumbilical mass raise the concern that a jejunal hamartomatous polyp is acting as a lead point for intussusception, the classic childhood complication of this syndrome and a potential surgical emergency. Her pallor and likely iron deficiency reflect chronic blood loss from the polyps. The cutaneous and family findings complete the bedside diagnosis and direct the investigation toward the small bowel rather than the colon alone. [3]

Investigations and diagnosis

The diagnosis of Peutz-Jeghers syndrome is clinical and genetic, supported by endoscopic and small-bowel imaging. I would arrange a full blood count and iron studies to confirm iron-deficiency anaemia and begin iron replacement, and urgent imaging of the small bowel with magnetic resonance enterography to define the polyp burden and exclude intussusception. Oesophagogastroduodenoscopy and colonoscopy map the polyps throughout the accessible gut and allow removal of large or bleeding lesions, with all polyps sent for histological typing. Germline testing for a pathogenic STK11 variant confirms the diagnosis and enables predictive testing of at-risk relatives. I would counsel the family and refer to a familial cancer service. [1]

Management and outcome

If intussusception is confirmed, this is a surgical emergency requiring resuscitation, fasting, and urgent surgical or endoscopic reduction, with resection of the offending polyp. Electively, the ESPGHAN position paper recommends small-bowel surveillance from late childhood using magnetic resonance enterography or video capsule endoscopy, alongside oesophagogastroduodenoscopy and colonoscopy, with prophylactic removal of large polyps to prevent intussusception, bleeding, and anaemia. Because the lifetime cancer risk is very high, surveillance extends across the lifespan to the breast, pancreas, gynaecological organs, and colon under a familial cancer service. I would arrange predictive genetic testing for her siblings, counsel the family on the autosomal dominant inheritance and the one in two risk, and plan a structured transition to adult care as she approaches adolescence. [2]