Atypical Peutz-Jeghers Syndrome Presenting With a Huge Jejunojejunal Intussusception in a Young Male: A Case Report

Anas Hashem1, Ahmad Ismayl2, Amir A Mahmoud1

  • 1Internal Medicine, Rochester Regional Health, Rochester, USA.

Cureus
|April 17, 2023
PubMed

Insights

Adult intussusception is rare and often presents with vague symptoms, making diagnosis challenging. This case highlights jejunojejunal intussusception in a young adult caused by a Peutz-Jeghers syndrome polyp.

Area of Science:

  • Gastroenterology
  • Surgical Pathology

Background:

  • Intussusception is an uncommon cause of intestinal obstruction in adults, often presenting with non-specific abdominal pain.
  • Preoperative diagnosis is difficult due to vague clinical manifestations.
  • Adult intussusception frequently involves a pathological lead point, necessitating identification of the underlying condition.

Observation:

  • A 21-year-old male presented with atypical clinical features suggestive of Peutz-Jeghers syndrome (PJS).
  • The patient experienced jejunojejunal intussusception.
  • An abdominal computed tomography (CT) scan provided a preliminary diagnosis, confirmed during surgery.

Findings:

  • The jejunojejunal intussusception was caused by a hamartomatous intestinal polyp, a known manifestation of PJS.
  • Surgical intervention led to a steady improvement in the patient's condition.
  • The patient was referred for further gastroenterological assessment post-discharge.

Implications:

  • This case underscores the importance of considering rare causes like PJS in adult intussusception, especially with atypical presentations.
  • Early identification of the pathological lead point is crucial for effective management and preventing recurrence.
  • Highlights the diagnostic utility of CT scans in identifying intussusception and guiding surgical intervention.

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