Martínez M Mónica, Norero M Enrique, Lezcano G Félix Gabriel, González B Sergio, Jarufe C Nicolás
División de Cirugía, Departamento de Cirugía Digestiva, Facultad de Medicina, Hospital Clínico Pontificia Universidad Católica de Chile, Santiago, Chile.
Rev Med Chil. 2011 Jan;139(1):84-8. Epub 2011 Apr 11.
Neurofibromatosis is a hereditary autosomal-dominant disease with high rates of de novo mutations, and carries a high risk of neoplasms. It affects both sexes and all races and ethnic groups. It is characterized by multiple cutaneous lesions and tumors, both benign and malignant, especially in the nervous system. We report a 52-year-old woman with a type 1 neurofibromatosis, presenting with fever, jaundice and weight loss. On physical examination, the patient was jaundiced and had "café au lait" spots in the skin. A magnetic resonance imaging showed bile duct dilation and a possible ampullar carcinoma. The patient was operated, during the exploration she presented a periampullary tumor and multiple small nodular lesions in the stomach, the tumor was resected with a pancreaticoduodenectomy and the nodular gastric lesions were biopsied. The pathological study revealed a combined adenocarcinoma and neuroendocrine duodenal tumor. The study of the stomach lesions revealed a gastrointestinal stromal tumor. Four months after surgery, the patient is in good condition.
神经纤维瘤病是一种常染色体显性遗传性疾病，新发突变率高，且患肿瘤风险高。它影响所有性别以及所有种族和族裔群体。其特征为出现多发性皮肤病变和肿瘤，包括良性和恶性肿瘤，尤其是在神经系统。我们报告一名52岁患有1型神经纤维瘤病的女性，表现为发热、黄疸和体重减轻。体格检查时，患者出现黄疸，皮肤有“牛奶咖啡斑”。磁共振成像显示胆管扩张，可能存在壶腹癌。患者接受了手术，术中发现壶腹周围有肿瘤，胃内有多个小结节性病变，肿瘤通过胰十二指肠切除术切除，胃内结节性病变进行了活检。病理研究显示为十二指肠腺癌合并神经内分泌肿瘤。胃部病变研究显示为胃肠道间质瘤。术后四个月，患者状况良好。
