神经纤维瘤病Ⅰ型并发腹部多重血管畸形和右肾萎缩

TypeⅠneurofibromatosis complicating multiple vascular malformation of abdomen and right kidney atrophy

报告1例神经纤维瘤病Ⅰ型并发腹部多重血管畸形和右肾萎缩。患者男,26岁。全身皮肤散在分布咖啡斑26年,鼻部、躯干多发结节、肿块16年,血压升高5年。体格检查:血压220/130 mm Hg(1 mm Hg=0.133 kPa),躯干、四肢可见10余处咖啡斑,呈棕色,深浅不一,直径2～10 cm。右鼻翼有一不规则肿块,躯干、四肢密布数百个黄豆、蚕豆大结节,部分呈暗褐色,质韧,互相不融合。数字减影血管造影检查提示:腹部多发血管畸形;双肾三维CT提示:右肾萎缩。免疫组化染色结果示S-100蛋白、波形蛋白(vimentin)阳性,核因子(NF)弱阳性。

A case of type I neurofibromatosis complicating multiple vascular malformation of abdomen and right kidney atro- phy is reported. A 26-year-old male presented with a 26-year history of coffee-colored spots on his trunk, a 16-year history of multiple nodules, and secondly to a 5-year history of hypertension. Physical examination showed the blood pressure was 220/130 mmHg. There were about ten light or deep brown cafe-au-lait spots and hundreds of densely covered fuscous bean sized nodules on his limbs and trunk. Digital subtraction angiography disclosed multiple vascular malformation of abdomen. Computer-assisted tomography disclosed right kidney atrophy. Immunohistologic examinations revealed S-100, vimentin, NF- were all positive.