Uncommon manifestation of Peutz-Jeghers syndrome: a case of jejuno-jejunal intussusception and volvulus leading to small bowel obstruction

Abstract

Abstract Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing gastrointestinal polyps and skin pigmentation. Our case report highlights a unique instance of jejuno-jejunal intussusception associated with PJS in a 28-year-old female patient who presented to the emergency department with colicky abdominal pain, tachycardia, and gastrointestinal symptoms. Physical examination revealed mucocutaneous hyperpigmentation. Imaging studies showed a U-shaped distension in the jejunum with thickening and pneumatosis. Laparotomy revealed a jejuno-jejunal volvulus with intussusception. Surgical resection successfully addressed gangrenous jejunal tissue and ileal polyps. Histopathology confirmed PJS polyps. Postoperatively, the patient recovered well and was discharged. Family history revealed similar skin lesions in her uncle. Our case highlights the need for prompt surgical intervention to address complications associated with PJS and elucidates a unique presentation of PJS involving jejuno-jejunal intussusception and volvulus leading to complete small bowel obstruction. We aim to deepen understanding and prompt discussions on optimal therapeutic strategies.