摘要
分析1例骨斑点症合并左侧眼眶骨异常摄取患者的临床特点。患者,男性,22岁,因腹部CT发现骨盆及双侧股骨近端异常就诊。完善实验室生化检查、全身同位素骨显像及LEMD3基因突变检测,确诊为骨盆及双侧股骨骨斑点症。同时骨显像发现左侧眼眶骨存在不同于骨斑点症性质的病灶,表现为核素点状浓聚,完善眼眶CT后发现病灶处磨玻璃样改变,拟诊为左侧眼眶骨纤维异常增生症。本文在进行文献复习的基础上对该两种疾病的发病机制、临床表现及影像学表现进行综述。展开讨论,旨在提高临床医生的认识。
We reported a case of osteopoikilosis with abnormal radiation uptake at the left orbital bone,which was suspected to be diagnosed as fibrous dysplasia.The patient was a 22-year-old male with an occasional abdominal CT finding of abnormalities in the pelvis and bilateral proximal femur.The diagnosis of osteopoikilosis was determined based on laboratory biochemical tests,whole-body bone scintigraphy,and Sanger sequencing of LEMD3 gene.Simultaneously,the abnormal radioactivity concentration was detected at the left orbital bone.In addition,orbital CT revealed ground glass-like changes in the lesion,which was suspected to be fibrous dysplasia of the left orbital bone.Based on a literature review,we discussed pathogenesis,clinical manifestations,and imaging characteristics of these two diseases in order to improve clinicians'understanding of these two diseases.
作者
任娜
李想
孙正魁
王梓媛
胡云秋
沙凌
章振林
汪纯
REN Na;LI Xiang;SUN Zheng-kui;WANG Zi-yuan;HU Yun-qiu;SHA Ling;ZHANG Zhen-lin;WANG Chun(Department of Osteoporosis and Bone Diseases,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai Clinical Research Center of Bone Disease,Shanghai 200233,China;Nuclear Medicine Department,Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine,Shanghai 200233,China)
出处
《中华骨质疏松和骨矿盐疾病杂志》
CSCD
北大核心
2023年第3期275-280,共6页
Chinese Journal Of Osteoporosis And Bone Mineral Research
