Peutz-Jeghers syndrome presenting with jejunoileal intussusception in a pediatric patient: A rare case report, in a developing country, Gondar, Ethiopia.

INTRODUCTION

Peutz-Jeghers Syndrome (PJS) is a rare genetic disorder characterized by the presence of hamartomatous polyps and distinctive mucocutaneous pigmentation, caused by mutations in the STK11 gene. This case report highlights a pediatric patient presenting with jejunoileal intussusception associated with PJS in Gondar, Ethiopia.

CASE PRESENTATION: An 8-year-old female presented with persistent abdominal pain, bilious vomiting, and inability to pass stools for two days, alongside lip pigmentation noted since birth. Upon examination, she exhibited signs of dehydration and abdominal distension, with ultrasound indicating intestinal obstruction due to intussusception. Emergency laparotomy revealed an 18 cm jejunoileal intussusception with three associated polyps. The gangrenous segment of the intestine was resected, and an end-to-end anastomosis was performed.

DISCUSSION: PJS is typically diagnosed based on the presence of polyps and mucocutaneous pigmentation. Our patient met the diagnostic criteria with three hamartomatous polyps and characteristic lip pigmentation. The prevalence of PJS is about 1 in 100,000, and the condition may lead to significant complications, including intussusception, particularly in children. Following surgery, the patient's recovery was uneventful, underscoring the importance of early diagnosis and intervention.

CONCLUSION

This case highlights the importance of recognizing PJS in pediatric populations, particularly in the context of gastrointestinal symptoms, to prevent severe complications, such as intussusception, and ensure prompt management.