神经纤维瘤病Ⅰ型的MRI影像学表现

Magnetic resonance imaging manifestations of neurofibromatosis type Ⅰ

目的分析神经纤维瘤病I型(NF1)的MRI影像学表现,提高对本病的认识。方法回顾性分析26例确诊神经纤维瘤病I型患者的临床及影像学资料,26例患者均接受MRI的检查,3例患者同时接受了CT的检查,1例患者同时接受了X线检查。结果 26例神经纤维瘤病I型(NF1)中有16例颅内中枢神经系统肿瘤,5例椎管内肿瘤,1例腹腔及腹膜后内肿瘤,1例臀部丛状神经纤维瘤,1例膝关节及2例小腿肿瘤,20例合并有皮肤的咖啡牛乳色斑,12例有家族史。结论神经纤维瘤病I型具有典型MRI表现,与临床表现结合可以确诊该病。

Objective To analyze the MR image findings in patients with neurofibromatosis type I （NF1） and to promote di- agnostic accuracy. Methods 26 patients with neurofibromatosis type I proved by clinical manifestations and pathology were re- viewed retrospectively. 25 patients were examined by MRI, and 3 patients were examined by CT at the same time, 1 patient was examined by X-ray at the same time. Results There were 16 cases of intracranial tumors of the central nervous system, 5 cases of intra-spinal canal tumor, 1 case of abdominal cavity and retroperitoneal tumor, 1 case of hip plexiform neurofibromatosis tumor, 1 case of knee joint and 2 cases of crus tumor. 20 patients presented with cutaneous multiple cafe au-lait spots, 12 cases had fami- ly history. Conclusion Neurofibromatosis type 1 （ NF1 ） has typical MRI manifestations, the disease can be diagnosed combined with the clinical manifestations.