丛状神经纤维瘤压迫泌尿系的Ⅰ型神经纤维瘤病患儿

Neurofibromatosis Type 1 in a Child with Plexiform Neurofibroma Pressing the Urinary System

一例3岁男性患儿,确诊Ⅰ型神经纤维瘤病(NF1)两年。患者腹膜后、腰尾椎旁、腰骶部椎管、椎间孔等处多发神经纤维瘤。因腹膜后肿物压迫,导致患儿患有肾盂积水、输尿管扩张、神经源性膀胱等泌尿系统并发症,排尿功能受到严重影响,曾多次进行手术治疗。目前患者使用丝裂原激活细胞外信号调控激酶(MEK)抑制剂司美替尼靶向治疗,已有自主排尿,一般状态较用药前好转。该病例的诊治体现了多学科协作在罕见病诊疗过程中具有重要意义。

A 3⁃year⁃old male patient was diagnosed with neurofibromatosis type 1(NF1)for two years.The patient has multiple neurofibromas in retroperitoneum,lumbococcygeal paravertebral,lumbosacral spinal canal,and foramina.Due to retroperitoneal mass compression,the child suffered from urological complications such as hydronephrosis,ureterdilation,neurogenic bladder,etc.,which seriously affected the urination function and resulted in multiple surgical treatments.Currently,the patient has been treated with mitogen acti⁃vates extracelluar signal⁃regulated kinases(MEK)inhibitor selumetinib targeted therapy,and has voluntarily urinated,and his general state is better than before medication.The diagnosis and treatment of this case reflects the importance of multidisciplinary collaboration in the diagnosis and treatment of rare diseases.