混合型神经纤维瘤病1例

A Case Report of Neurofibromatosis Type 3

神经纤维瘤病是一种常染色体显性遗传病,可累及神经、肌肉、骨胳、内脏、皮肤^([1]),可分为神经纤维瘤病1型(NF-1)和神经纤维瘤病2型(NF-2),其中NF-2少见,病情复杂,预后差。而兼有NF-1和NF-2症状的混合型神经纤维瘤病(NF-3)^([2])罕有报道。现有患者中年男性,因左侧颌面部肿块40年入院,经检查后诊断为NF-3。

Neurofibromatosis is considered an autosomal dominant disorder that can affect the brain,spinal cord,nerves and skin.NF can be classified into two distinct types:neurofibromatosis type 1(NF-1)and NF-2.The NF-1 is rare,the course of NF-2 is complex and the prognosis is poor.Moreover,NF-3 is seldom reported which combines features of both.A middle-age male was admitted to our Maxillofacial Department,complaint of huge swelling on left side of face since 40 years ago.The physical examination:Bilateral deafness and lower limb paresis.After examination,it was diagnosed as NF-3.