Vagni V, Raparelli L, Mazzarella Farao R
U.S.L. RM/D, Ospedale G.B. Grassi, Divisione di Chirurgia Generale.
G Chir. 1995 Aug-Sep;16(8-9):357-9.
Neurofibromatosis is an autosomal dominant trait with variable expressivity clinically defined by the coexistence of multiple cafè au lait spots, subcutaneous neurofibromas and Lisch nodules. Hemorrhage from intestinal neurofibromas or related tumors may be life-threatening because often inaccessible and therefore difficult to locate. The Authors report a case of gastrointestinal hemorrhage in a 68 year old patient with neurofibromatosis who had an episode of melena from duodenal ulcer endoscopically detected 5 years earlier. Endoscopy failed to discover the site of bleeding; this was successfully demonstrated by angiography: superior mesenteric arteriography disclosed 32 hypervascular masses supplied by a digiunal branch and by the oleo-colic artery. Because of continuing hemorrhage the patient was submitted to surgery. The exploration demonstrated ulcerated neurofibromatous neoplasms at the level of the digiunum and terminal ileum, with a Meckel's diverticulum and gallbladder stones. Intestinal resection, right emicolectomy, Meckel's diverticulum resection and colecystectomy were performed. Review of the literature demonstrates angiography is the most reliable imaging modality for detecting such tumors.
神经纤维瘤病是一种常染色体显性性状,临床表现具有可变表达性,其定义为多个咖啡牛奶斑、皮下神经纤维瘤和Lisch结节并存。肠道神经纤维瘤或相关肿瘤出血可能危及生命,因为这些肿瘤常常难以触及,因此难以定位。作者报告了一例68岁神经纤维瘤病患者发生胃肠道出血的病例,该患者5年前曾因十二指肠溃疡出现黑便,经内镜检查发现。内镜检查未能发现出血部位;血管造影成功地显示了出血部位:肠系膜上动脉造影显示由十二指肠分支和回结肠动脉供血的32个高血运肿块。由于持续出血,患者接受了手术。探查发现十二指肠和回肠末端有溃疡性神经纤维瘤性肿瘤,伴有梅克尔憩室和胆结石。进行了肠切除术、右半结肠切除术、梅克尔憩室切除术和胆囊切除术。文献回顾表明,血管造影是检测此类肿瘤最可靠的影像学检查方法。