LRP5基因突变导致骨质疏松症-假性胶质瘤综合征一例报告OA北大核心CSTPCD

We report a case of autosomal recessive osteoporosis pseudoglioma syndrome.The proband was a 23-year-old female who was blind in both eyes after birth and her right eyeball was removed due to the retinoblastoma of the right eye in fancy.Fractures have repeatedly occured under minor external force since the age of 9 years and was diagnosed as osteogenesis imperfecta.Physical examination revealed scoliosis deformity,thoracic deformity,elbow valgus in both up-per limbs,and ligament laxity in the joints of the extremities.Dual energy X-ray absorptiometry(DXA)showed that the bone mineral density was significantly lower than that of peers with the value of 0.484 g/cm2 in the lumbar region(L1-L4)(Z score-5).X-ray radiographs showed sparse trabeculae throughout the body.Nucleotide sequencing revealed a compound heterozygous mutations in exon 6 and exon 23 of gene encoding low-density lipoprotein receptor-related protein 5(LRP5),resulting in p.Pro382Leu and p.Cys1611LeufsX33.This article and summarizes the clinical manifestations and diagnostic features of this disease through literature review,to enhance clinicians'understanding of this disease.