Abdominal Surgery, Zuyderland Medical Centre, Heerlen, Limburg, The Netherlands.
Pathology, Zuyderland Medical Centre, Heerlen, Limburg, The Netherlands.
BMJ Case Rep. 2020 Jun 3;13(6):e234383. doi: 10.1136/bcr-2020-234383.
Neurofibromatosis type 1 (NF1, Von Recklinghausen disease) is an autosomal dominant disease with a birth incidence of 1/2500-3000. The most common presentations of NF1 are cutaneous presentations like café-au-lait spots and neurofibromas. 5%-25% of patients with NF1 have gastrointestinal manifestations of the disease. Appendiceal neurofibroma are extremely rare and only a few cases are described in literature. An appendectomy is indicated because of high risk of appendicitis and malignant transformation. We report the case of a 74-year-old male patient with a history of NF1 with chronic right lower quadrant pain. Successive imaging scans showed suspicion of chronic appendicitis. A diagnostic laparoscopy, resulting in a laparoscopic appendectomy was performed without complications. Histopathology showed appendiceal neurofibroma and diverticula. The postoperative course was uneventful. In patients with NF1 with right lower quadrant pain benign appendiceal neurofibroma should be included in the differential diagnosis. A diagnostic laparoscopy should be performed followed by an appendectomy.
神经纤维瘤病 1 型（NF1，冯·雷克林豪森病）是一种常染色体显性遗传病，出生率为 1/2500-3000。NF1 最常见的表现是皮肤表现，如咖啡牛奶斑和神经纤维瘤。5%-25%的 NF1 患者有胃肠道表现。阑尾神经纤维瘤极为罕见，文献中仅描述了少数几例。由于阑尾炎和恶性转化的风险高，因此需要进行阑尾切除术。我们报告了一例 74 岁男性患者，有 NF1 病史，表现为慢性右下腹痛。连续的影像学扫描提示慢性阑尾炎的可能。在无并发症的情况下进行了诊断性腹腔镜检查，结果行腹腔镜阑尾切除术。组织病理学显示阑尾神经纤维瘤和憩室。术后过程顺利。对于 NF1 患者右下腹痛，应将良性阑尾神经纤维瘤纳入鉴别诊断。应进行诊断性腹腔镜检查，然后进行阑尾切除术。
