骨斑点症合并眼眶骨异常一例报告  

Osteopoikilosis combined with abnormal radioactivity uptake at orbital bone:a case report and literature review

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)

机构地区：[1]上海交通大学医学院附属第六人民医院骨质疏松和骨病专科,上海市骨疾病临床研究中心,上海200233 [2]上海交通大学医学院附属第六人民医院核医学科,上海200233

出　　处：《中华骨质疏松和骨矿盐疾病杂志》2023年第3期275-280,共6页Chinese Journal Of Osteoporosis And Bone Mineral Research

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.

关 键 词：骨斑点症 LEMD3基因 骨纤维异常增生症 

分 类 号：R681[医药卫生—骨科学]