Rare paediatric case of agenesis of the vermiform appendix, ileal duplication and sickle cell disease

Abstract

This study reports an exceptional case of a 14-year-old girl with sickle cell disease that was diagnosed with agenesis of the vermiform appendix and ileal duplication. Both consist of extremely rare gastrointestinal malformations whose association has never been described. The preadolescent girl presented with abdominal pain and vomiting, and the ultrasound was suggestive of acute appendicitis. Surgical findings were agenesis of the vermiform appendix and a T-shaped ileal malformation with inflammatory changes. The patient underwent resection and ileal end-to-end anastomosis. Histopathological evaluation identified an ileal duplication, with small bowel and colonic mucosa, no communication to the adjacent ileum and ischaemic changes. At 8-month follow-up, the patient was asymptomatic.