Tanaka Rie, Sekioka Akinori, Ota Shuichi, Ito Tetsuo, Adachi Yukito
Gastroenterological Surgery, Osaka Saiseikai Noe Hospital, Osaka, JPN.
Cureus. 2022 Apr 11;14(4):e24048. doi: 10.7759/cureus.24048. eCollection 2022 Apr.
Neurofibromatosis type 1 (NF1) is a congenital condition characterized by "café au lait" spots and subcutaneous fibromas. There are various combined diseases, such as malignant tumors in the abdominal organs or brain tumors. Here, we present a case of a 35-year-old patient with a rare combination of NF1 with a gastrointestinal stromal tumor (GIST) and pancreaticobiliary maljunction (PBM). At the first visit, her main symptom was right upper abdominal pain. Radiological investigations revealed a common bile duct stone, submucosal tumor in the duodenum, PBM, and abnormal findings in the intrahepatic bile ducts. After the common bile duct stone was removed by endoscopic intervention, the patient underwent laparoscopic cholecystectomy, resection of the duodenal submucosal tumor, and liver biopsy. Pathological examination revealed chronic cholecystitis, GIST of the duodenum, and chronic inflammation of the intrahepatic bile ducts. This is the first case report of the rare coexistence of GIST and PBM in a patient with NF1.
1型神经纤维瘤病（NF1）是一种先天性疾病，其特征为“牛奶咖啡斑”和皮下纤维瘤。它常伴有多种合并症，如腹部器官恶性肿瘤或脑肿瘤。在此，我们报告一例35岁患者，该患者患有罕见的NF1合并胃肠道间质瘤（GIST）和胰胆管合流异常（PBM）。初诊时，她的主要症状是右上腹疼痛。影像学检查发现胆总管结石、十二指肠黏膜下肿瘤、PBM以及肝内胆管异常表现。在内镜干预取出胆总管结石后，患者接受了腹腔镜胆囊切除术、十二指肠黏膜下肿瘤切除术及肝脏活检。病理检查显示慢性胆囊炎、十二指肠GIST和肝内胆管慢性炎症。这是首例关于NF1患者罕见地同时存在GIST和PBM的病例报告。
