1型神经纤维瘤病伴大脑萎缩1例

Neurofibromatosis Type 1 with Brain Atrophy:A Case Report

患者女,19岁,躯干、四肢多发褐色斑片、肿物10余年,伴左腕部内翻畸形,癫痫发作及智力低下。皮肤科情况:躯干、四肢见大小不等褐色斑片,直径约数毫米至10 cm不等,另见多个大小不等皮色至淡红色肿物,直径约1~15 cm不等,肿物质软,界清,无触痛。头颅CT示:右侧大脑萎缩。皮肤肿物组织病理示:真皮见淡染瘤体,内见多数核呈梭形和S形的细胞杂乱排列,可见散在分布的肥大细胞。诊断:1型神经纤维瘤病伴大脑萎缩。

A 19-year-old female presented with multiple brown patches and tumors on her trunk and limbs for more than 10 years.She had inversion deformity on her left wrist as well as epilepsy and mental retardation.Examination of the skin revealed that the sizes of the brown patches varied with diameters ranging from few millimeters to 10 cm.There were also several skin-colored and light red tumors whose diameters ranged from 1 to 15 cm.The tumors were soft,non-tender and had clear boundaries.Skull CT showed atrophy of the right brain.Histopathological examination of skin tumor revealed lightly stained tumors in the dermis.In the tumor,many cells whose nucleus were spindle-shaped and S-shaped were distributed in disorder,and scattered mast cells were observed as well.The diagnosis of neurofibromatosis type 1 with brain atrophy was made.