Njei Basile, Sanchez Harold
Department of Medicine, University of Connecticut School of Medicine, 263 Farmington Avenue, Farmington, CT 06030-1845, USA.
Conn Med. 2013 Feb;77(2):77-80.
Neurofibromatosis type 1 (NF1), a relatively common autosomal dominantly inherited condition with complete penetrance but extremely variable phenotypic expressivity, is caused by mutations in the NF1 gene. The disease is defined clinically by its cutaneous (cafe-au-lait macules, inguinal and axillary freckles) and neural (neurofibromas, plexiform neurofibromas, Lisch spots, optic nerve gliomas) signs, but it can involve many other systems including the gastrointestinal, pulmonary, respiratory, skeletal and vascular systems. Involvement of these other systems can sometimes manifest itself in clinically confusing ways. For example, the literature includes reports of patients with NF1 that has caused pulmonary hypertension, spontaneous hemothorax, and gastrointestinal bleeding. We present the case of a man with NF1 who presented with recurrent unexplained thromboembolic disease and died suddenly in the hospital. In addition to confirming his suspected massive pulmonary thromboembolus (PE), an autopsy revealed an unsuspected periampullary duodenal carcinoid tumor. The potential connections between the patient's NF1, duodenal tumor, and fatal PE are discussed. The case highlights the importance of bearing in mind the protean clinical manifestations of NF1.
1型神经纤维瘤病（NF1）是一种相对常见的常染色体显性遗传病，具有完全外显率，但表型表达高度可变，由NF1基因突变引起。该疾病在临床上由其皮肤表现（咖啡牛奶斑、腹股沟和腋窝雀斑）和神经表现（神经纤维瘤、丛状神经纤维瘤、Lisch结节、视神经胶质瘤）定义，但它可累及许多其他系统，包括胃肠道、肺部、呼吸、骨骼和血管系统。这些其他系统的受累有时会以临床上令人困惑的方式表现出来。例如，文献中有关于NF1患者出现肺动脉高压、自发性血胸和胃肠道出血的报道。我们报告一例NF1男性患者，该患者反复出现不明原因的血栓栓塞性疾病并在医院突然死亡。除了证实其疑似的大面积肺血栓栓塞（PE）外，尸检还发现了一个意外的壶腹周围十二指肠类癌肿瘤。讨论了患者的NF1、十二指肠肿瘤和致命PE之间的潜在联系。该病例强调了牢记NF1多样临床表现的重要性。
