Abstract:

Type I neurofibromatosis（NF-1）with retroperitoneal massive tumor is rare in clinical practice, and there are rare cases of the retroperitoneal massive tumor complicated with a low grade malignant schwannoma. This paper reports a case of retroperitoneal hyperplasia of NF-1, who presented the multiple subcutaneous nodules and was found right posterior inferior vena cava mass by CT imaging and diagnoses as neurocutaneous syndrome（such as neurofibromatosis type I）. The operation proved that retroperitoneal mass was neurofibroma accompanied with local malignant change. The patient was followed up three months and recovered well.

Key words: neurofibromatosis, retroperitoneal mass, malignant schwannoma

摘要：

Ⅰ型神经纤维瘤病（NF-1）合并腹膜后的巨大肿物临床罕见，同时腹膜后巨大肿物局部区域伴有低级别恶性神经鞘瘤的病例更鲜有报道。本文报道一例腹膜后巨大肿物的NF-1病例，患者全身见多发的皮下结节，入院后腹部CT报告提示右侧腹膜后下腔静脉后肿块，胸壁、腹壁、背部皮肤及皮下多发结节，考虑神经皮肤综合征（如神经纤维瘤病I型）。最终手术证实腹膜后巨大肿物为神经纤维瘤并伴有局部区域的恶变。术后3个月随访，患者恢复良好。

关键词: 神经纤维瘤病Ⅰ型, 腹膜后肿物 , 恶性神经鞘瘤