1型神经纤维瘤病相关先天性假关节的X线及三维CT表现并复习

X-ray and three-dimensional CT findings of congenital pseudarthrosis associated with neurofibromatosis type 1

目的:分析1型神经纤维瘤病相关的先天性假关节的X线、CT表现、临床资料及病理特征,以提高对该病的诊断水平。方法:回顾性分析从2016年1月至2019年12月我院经手术或穿刺活检病理证实为先天性假关节8例患者资料,所有患者均术前接受X线、CT三维检查。结果:其中6例发生在胫骨,1例发生在尺骨,1例发生在腓骨,同时合并胫骨骨折。7例骨干形态弯曲,1例骨干形态未发生改变。8例均发生在骨干中下1/3处。7例假关节断端成角畸形,7例X线表现为假关节近远端变细变尖呈锥状,局部骨质增生硬化,骨髓腔闭塞,无骨痂及骨膜反应。1例X线表现为假关节近端局部膨大,骨质密度减低,囊性变,其远端骨质硬化,骨髓腔闭塞。7例冠、矢、横状位三维CT重建表现为假关节近远端骨质增生硬化,骨髓腔闭塞,1例冠、矢、横状位三维CT重建表现为假关节近端见囊样低密度骨质破坏,呈囊样改变。结论:I型神经纤维瘤病相关的先天性假关节X线上具有典型的特点,三维CT重建对先天性假关节的诊断和手术治疗提供空间优势。

Objective:To analyze the X-ray,CT findings,clinical data and pathological features of congenital pseudarthrosis associated with neurofibromatosis type 1,in order to improve the diagnostic level of this disease.Methods:The data of 8 patients with congenital pseudarthrosis confirmed by surgery or puncture biopsy in our hospital from January 2016 to December 2019 were retrospectively analyzed.All the patients received preoperative X-ray and CT three-dimensional examination.Results:6 cases occurred in tibia,1 in ulna and 1 in fibula,combined with tibia fracture.7 cases had bent diaphysis,and 1 case had normal diaphysis.All 8 cases occurred in the middle and lower 1/3 of the diaphysis.In 7 cases,there were angular malformation at the broken end of the pseudarthrosis,and 7 cases showed tapering and tapering at the distal end of the pseudarthrosis,local osteosclerosis,bone marrow cavity occlusion,and no callus or periosteum reaction on X-ray.One patient presented with local enlargement of the proximal pseudarthrosis,reduced bone density,cystic changes,distal osteosclerosis,and occlusion of the bone marrow cavity.While three-dimensional CT reconstruction in the coronal,sagittal and transverse positions showed cystic low-density bone destruction in the proximal part of prosthesis and cystic changes in one case.Conclusion:Neurofibromatosis type 1 associated with congenital pseudarthrosis has typical features,and three-dimensional CT reconstruction provides a spatial advantage for the diagnosis and surgical treatment of congenital pseudarthrosis.