Department of Gastroenterology, Affiliated Hospital to Zunyi Medical College, Zunyi 563003, Guizhou Province, China.
World J Gastroenterol. 2018 Sep 7;24(33):3806-3812. doi: 10.3748/wjg.v24.i33.3806.
Neurofibromatosis type 1 (NF-1) is commonly associated with benign or malignant tumors in both the central and peripheral nervous systems. However, rare cases of NF-1-associated multiple rectal neuroendocrine tumors have been reported. This report describes a case of a 39 year old female with NF-1 and intermittent hematochezia as a primary symptom. Physical examination showed multiple subcutaneous nodules and café au lait spots with obvious scoliosis of the back. Imaging examinations and colonoscopy found malformation of the left external iliac vein and multiple gray-yellow nodules with varying sizes and shapes in the rectal submucosal layer. Histological and immunohistochemical results suggested multiple rectal neuroendocrine tumors, a rare disease with few appreciable symptoms and a particularly poor prognosis. The patient with NF-1 presented here had not only multiple rectal neuroendocrine neoplasms but also vascular malformations, scoliosis and other multiple system lesions. This case therefore contributes to improving clinical understanding, diagnosis and treatment of related complications for patients with NF-1 who present with associated medical conditions.
神经纤维瘤病 1 型（NF-1）常与中枢和周围神经系统的良性或恶性肿瘤相关。然而，已有罕见的 NF-1 相关多发性直肠神经内分泌肿瘤的报道。本报告描述了一例 39 岁女性，以 NF-1 和间歇性血便为主要症状。体格检查显示背部有多个皮下结节和牛奶咖啡斑，并有明显的脊柱侧凸。影像学检查和结肠镜检查发现左侧髂外静脉畸形和直肠黏膜下层有多个大小和形状不一的灰黄色结节。组织学和免疫组织化学结果提示为多发性直肠神经内分泌肿瘤，这是一种症状不明显、预后特别差的罕见疾病。本例 NF-1 患者不仅存在多发性直肠神经内分泌肿瘤，还存在血管畸形、脊柱侧凸和其他多系统病变。因此，该病例有助于提高对伴有相关疾病的 NF-1 患者的临床认识、诊断和相关并发症的治疗。
