Somankar Saurabh, Sahu Priyansh, Luharia Anurag, Tivaskar Suhas
Radiodiagnosis, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Radiology, Datta Meghe Institute of Higher Education and Research, Wardha, IND.
Cureus. 2024 Oct 1;16(10):e70609. doi: 10.7759/cureus.70609. eCollection 2024 Oct.
Osteogenesis imperfecta is an inherited disorder that results in fragile bones that break easily. Gene defects are responsible for the disease. Collagen, a protein that helps strengthen bones, is produced by these genes. The disease can be classified into four types ranging from mild to lethal. Type III or type IV is the most severe forms that survive the neonatal period. In osteogenesis imperfecta strengthening the bone requires correcting the genetic mutations that cause the disorder. Physical rehabilitation, surgical procedures, and clinical management of osteogenesis imperfecta include the use of drugs such as bisphosphonates and recombinant human growth hormone. A nine-year-old male child came to the radiology department with a clinical history of bony deformities of both legs since the age of six years. The child was normal until the age of six years. Then, later, he had a right femur fracture. Surgery was done with a rod inserted in his femur, which was later removed, causing bending of his tibia and fibula. Treatment can improve the quality of life and manage symptoms, but the condition cannot be cured. As part of the treatment, bone-strengthening medications, physiotherapy, and surgery may be required.
成骨不全症是一种遗传性疾病,会导致骨骼脆弱,容易骨折。基因缺陷是导致该疾病的原因。胶原蛋白是一种有助于增强骨骼的蛋白质,由这些基因产生。该疾病可分为从轻度到致命的四种类型。III型或IV型是在新生儿期存活下来的最严重形式。在成骨不全症中,增强骨骼需要纠正导致该疾病的基因突变。成骨不全症的物理康复、外科手术和临床管理包括使用双膦酸盐和重组人生长激素等药物。一名9岁男童因自6岁起双腿出现骨骼畸形的临床病史前来放射科就诊。该儿童6岁前发育正常。后来,他右侧股骨骨折。进行了手术,在他的股骨中插入了一根 rods(此处原文有误,推测可能是rod),后来取出,导致他的胫骨和腓骨弯曲。治疗可以改善生活质量并控制症状,但病情无法治愈。作为治疗的一部分,可能需要使用增强骨骼的药物、物理治疗和手术。