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轻微创伤导致反复同时双侧胫骨近端骨骺损伤的成骨不全症:一例报告及文献综述

Osteogenesis imperfecta with repeated simultaneous bilateral proximal tibial epiphyseal injuries caused by minor trauma: A case report and literature review.

作者信息

Yotsuya Kumiko, Yasuda Tatsuya, Yamazaki Kaoru, Sarukawa Junichiro, Kato Kouki, Matsuyama Yukihiro

机构信息

Department of Orthopedic Surgery, Iwata City Hospital, Iwata, Japan.

Department of Orthopedic Surgery, Iwata City Hospital, Iwata, Japan.

出版信息

Int J Surg Case Rep. 2023 Sep;110:108794. doi: 10.1016/j.ijscr.2023.108794. Epub 2023 Sep 6.

Abstract

INTRODUCTION

Proximal tibial epiphyseal injuries are rare, accounting for 0.5-3 % of all epiphyseal injuries, of which bilateral cases are extremely rare. Only five cases of bilateral proximal tibial epiphyseal injuries have so far been reported in patients with osteogenesis imperfecta. We herein present a case of repeated bilateral proximal tibial epiphyseal injuries with a diagnosis of osteogenesis imperfecta. We also performed a literature review of 46 cases of bilateral proximal tibial epiphyseal injuries reported since 1955, including 5 of osteogenesis imperfecta.

PRESENTATION OF CASE

A 10-year-old boy repeatedly sustained bilateral simultaneous proximal tibial epiphyseal injuries due to minor trauma. Blue sclera was noted and, thus, genetic testing was performed and revealed osteogenesis imperfecta. After the fourth injury, we performed internal fixation with cannulated cancellous screw bilaterally. The patient had a short stature and the marked loss of bone density; therefore, the screw was kept in place until epiphyseal closure and bisphosphonate and human growth hormone were administered to prevent re-fracture and increase bone density and the growth rate.

DISCUSSION

The literature review revealed that the mean age of injury was 11.2 years for osteogenesis imperfecta cases and 14.9 years for non-osteogenesis imperfecta cases, with the former being injured at a younger age.

CONCLUSION

Osteogenesis imperfecta often causes diaphyseal fractures, which may be attributed to the fragility of the epiphyseal line. Therefore, the possibility of osteogenesis imperfecta needs to be considered when treating patients with epiphyseal injuries at rare sites, particularly younger children.

摘要

引言

胫骨近端骨骺损伤较为罕见,占所有骨骺损伤的0.5%-3%,其中双侧病例极为罕见。迄今为止,仅报道过5例成骨不全患者发生双侧胫骨近端骨骺损伤。本文报告1例反复发生双侧胫骨近端骨骺损伤且诊断为成骨不全的病例。我们还对1955年以来报道的46例双侧胫骨近端骨骺损伤病例进行了文献回顾,其中5例为成骨不全。

病例介绍

一名10岁男孩因轻微外伤反复发生双侧同时性胫骨近端骨骺损伤。发现其巩膜呈蓝色,因此进行了基因检测,结果显示为成骨不全。第四次损伤后,我们对双侧进行了空心松质骨螺钉内固定。该患者身材矮小且骨密度明显降低;因此,螺钉一直保留至骨骺闭合,并给予双膦酸盐和人生长激素以预防再次骨折、增加骨密度和生长速度。

讨论

文献回顾显示,成骨不全病例的平均受伤年龄为11.2岁,非成骨不全病例为14.9岁,前者受伤年龄更小。

结论

成骨不全常导致骨干骨折,这可能归因于骨骺线的脆弱性。因此,在治疗罕见部位骨骺损伤的患者时,尤其是年幼患儿,需要考虑成骨不全的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1713/10510050/d93cd526f769/gr1.jpg

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