眼眶神经纤维瘤病Ⅰ型的临床分析

Clinical analysis of the typeⅠorbital neurofibromatosis

目的探讨总结眼眶神经纤维瘤病Ⅰ型的临床表现、影像学特征、诊断及治疗。方法回顾性分析2000～2010年诊治的眼眶神经纤维瘤病Ⅰ型43例，将其临床资料及B超、彩色超声多普勒超声、CT、MRI进行分析。结果眼眶神经纤维瘤病Ⅰ型，多自幼发病，多表现有眼睑肿胀、上睑下垂、虹膜Lisch结节及皮肤的牛奶咖啡斑，CT可发现特征性骨改变，如蝶骨大小翼的缺失或发育不全，眶腔、眶上裂扩大等；MRI可更好的观察到肿瘤自眼眶向颅内蔓延情况。目前治疗主要对症处理，手术治疗为主。结论眼眶神经纤维瘤病Ⅰ型临床表现多样，影像学检查有助于诊断和鉴别，手术为首选治疗方法。

Objective To explore and summarize the clinical manifestations, iconographic charac- terizations, diagnosis and treatment principles of the type Ⅰ orbital neurofibromatosis. Methods Ret- rospectively reviewed the clinical features and imaging features including B-scan ultrasonography, Col- or doppler ultrasound （CDI）, computed tomography （CT） and magnetic resonance imaging （MRI） of 43 patients with type Ⅰ neurofibromatosis, who were treated in our department from 2000 to 2010. Results Clinical features of the orbital type Ⅰ neurofibromatosis were often present at birth. The swelling of blepharon, ptosis, Lisch nodular and caf6-au-lait spots were the most common features. CT can showed the characteristic change of bones, such as the defects or dysplasia of the sphenoid, the enlargement of the orbital cavity and superior orbital fissure; MRI could better show the spread of tumor from the orbit to brain. Current treatment was heteropathy and operation was the main method. Conclusions The clinical features of the orbital typeⅠneurofibromatosis are various, the imaging examinations are useful for the differential diagnosis.