Recurrent Intestinal Obstruction in a Teenager with Small-bowel Adenocarcinoma in a Classic Case of Peutz-Jeghers Syndrome

Abstract

Introduction: Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder with incomplete penetrance. It is characterised by gastrointestinal (GI) hamartomatous polyps and mucocutaneous pigmentation, including the lips and gums. The GI hamartomatous polyps in PJS are associated with a significantly increased risk of malignant transformation. Intestinal lesions may be evident from bleeding but more commonly arise from painful intestinal cramps related to obstruction due to recurrent intussusception. Small-bowel surveillance in the Paediatric population with PJS is not designed to identify small-bowel malignancy, which is thought to arise in adulthood.  Case Presentation: We reported the case of a 13-year-old African descent boy who presented with colicky abdominal pain and passage of mucoid non-bloody stool. Examination revealed a child in painful with pigmentation of the bucal mucosa. The abdomen was distended with generalised tenderness. An urgent abdominal Ultrasound Scan (USS) showed dilated bowel loops with increased peristalsis suggestive of intestinal obstruction. Laparotomy was undertaken, and adhesiolysis and polypectomy were done. Histology of the polyp revealed a malignant epithelial tumour consistent with carcinomatous transformation of hamartomatous polyp.   Conclusion: This report is an earliest onset of small-bowel adenocarcinoma in PJS-like case, an observation relevant to surveillance guidelines.