目的 探讨Ⅰ型神经纤维瘤病 (neurofibromatosis type Ⅰ,NF1)周围神经病变的超声应用价值。方法 回顾性分析11例经临床或手术病理证实的NF1周围神经病变的超声表现,观察NF1周围神经病灶的数目、位置、范围、内部回声、血流信号分布,及其与周围神经、组织的关系。结果 NF1周围神经病灶的超声特性表现为大小不等、多灶性分布、表现多样化的神经纤维瘤,分为三型:多发结节型5例,呈类圆形、分叶状及纺锤形,边界清晰,结节内多为实性低回声;丛状型4例,表现为受累神经干变形、扭曲、不均匀增粗,呈蔓丛状低回声沿神经干长轴生长;弥漫型2例,表现为皮下脂肪层增厚,边界不清,呈片状高回声,其间可见线状、条索状低回声分布。本组3例恶变为恶性周围神经鞘膜瘤,肿物体积较大,回声不均,内部血流信号丰富,周围组织可见浸润征象。结论 超声能够清晰显示NF1受累周围神经的病变特征,为临床诊断提供客观、确切依据,同时超声随访对发现NF1的周围神经病灶复发、恶变也有重要意义。

Objective To investigate the application value of ultrasonography in evaluating the peripheral neuropathy of neurofibromatosis type I (NF1). Methods The ultrasonic manifestations of peripheral neuropathy in 11 cases of NF1 confirmed by clinic or pathology were retrospectively analyzed. The amount, position, range, internal echo, vascular distribution, and the relationship with peripheral nerve and tissue of peripheral nerve lesions in NF1 were observed. Results The ultrasonic characteristics of peripheral neuropathy in NF1 showed as neurofibromas of varied sizes, multi focal distribution, and multiform performances. They were divided into three types. 5 cases were multiple nodular types. They appeared as round, lobulated and spindly, clear boundary and solid hypoechoic mostly. 4 cases were of plexiform type. The involved neural trunks were deformed, distorted, and thickened. The lesions were plexiform hypoechoic and grew axially along the neural trunks. 2 cases were of diffuse type, manifested as subcutaneous fat layer thickening with fuzzy borders, flaked hyperechoic with linear, cord like hypoechoic distribution. 3 cases of recurrence in this group were malignant Schwannoma. The sizes of tumor were larger. The internal echoes were heterogeneous. The internal vessels were abundant. The surrounding tissues were infiltrated. Conclusions Ultrasonography can clearly display the features of involved peripheral neuropathy in NF1; provides objective and exact evidences to clinical diagnosis. At the same time ultrasonic follow-up also plays an important role in finding recurrence and malignant transformation of peripheral neuropathy in NF1.