A rare case of juvenile polyposis syndrome in a 19-month-old male presenting with intussusception and chronic anemia

Abstract

Introduction: Juvenile polyposis syndrome (JPS) is a rare type of hamartomatous syndrome that has a range of phenotypic presentations. We present a case of JPS presenting as jejunal-jejunal intussusception due to a pathological lead point. Case presentation: A 19-month-old male with no significant family history and a personal history of iron-deficiency anemia presented with malaise, fatigue, anorexia, bilious emesis, and abdominal distention. Lab work revealed a hemoglobin of 4.9 mg/dl and a uric acid of 13.4 mg/dl. Laboratory studies and imaging were concerning for intussusception or possible perforated appendicitis. There were concerns of non-Hodgkin's lymphoma because of the elevated uric acid. Surgical intervention revealed a jejunal-jejunal intussusception secondary to innumerable polyps acting as a pathological lead point. Conclusion: There are few cases of JPS presenting as intussusception in this age group, and this unique case report highlights this rarity.

Keywords

• Juvenile polyposis syndrome
• Intussusception
• Anemia
• Small bowel