Department of Pediatric Surgery, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal
Pathological Anatomy Department, Hospital de São José, Centro Hospitalar de Lisboa Central EPE, Lisboa, Portugal.
BMJ Case Rep. 2022 May 17;15(5):e248181. doi: 10.1136/bcr-2021-248181.
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.
本研究报告了一例罕见病例，一名 14 岁镰状细胞病女孩被诊断为阑尾未发育和回肠重复畸形。这两种疾病均为极罕见的胃肠道畸形，其关联从未被描述过。这名青春期前的女孩出现腹痛和呕吐，超声提示急性阑尾炎。手术发现为阑尾未发育和 T 形回肠畸形伴炎症改变。患者接受了切除和回肠端端吻合术。组织病理学评估发现回肠重复畸形，具有小肠和结肠黏膜，与相邻回肠无相通且存在缺血性改变。在 8 个月的随访中，患者无症状。
