Richard Ssekabembe, Robert Natumanya, Sambo Vanusa Da Consolação, Daniel Abonga, Ronald Okidi
Lacor Hospital-Gulu, Gulu, Uganda.
Mbarara University of Science and Technology, Mbarara, Uganda.
J Med Case Rep. 2025 Jan 20;19(1):24. doi: 10.1186/s13256-025-05029-0.
Osteogenesis imperfecta is a rare inherited connective tissue disorder that results in excessive bone fragility due to defects in collagen production. The majority of osteogenesis imperfecta cases are inherited in an autosomal dominant pattern, and 17 genetic causes have been identified. Diagnosis is usually based on clinical presentation and low bone mineral density scores, while treatment involves a multidisciplinary approach using medical therapies such as bisphosphonates, vitamin C, and pamidronate. Recent research has also explored new therapies, including teriparatide, denosumab, and allele-specific silencing (Edelu et al. in Ann Med Health Sci Res 4(Suppl 1):S1-5, 2014; Bastos et al. in Einstein (São Paulo) 8:480-2, 2010; Van Dijk and Sillence in Am J Med Genet A 164A(6):1470-81, 2014; Subramanian and Viswanathan in Osteogenesis Imperfecta. In: StatPearls. Treasure Island (FL): StatPearls Publishing. http://www.ncbi.nlm.nih.gov/books/NBK536957/ . Accessed 2 Mar 2023, 2022).
A 3-week-old female neonate of African ethnicity was delivered at term by emergency C-section due to two previous scars. The baby had an APGAR score of 7 at 5 minutes and a birth weight of 2.5 kg. The neonate had short and deformed limbs, a soft head, and bluish eyes. The neonate was diagnosed with osteogenesis imperfecta on the basis of clinical examination findings and radiological investigations, which showed multiple bony discontinuities at variable stages of healing in the limbs and ribs. The neonate was managed with supplemental oxygen by nasal prongs and intravenous antibiotics but unfortunately passed away before being reviewed by the orthopedic team.
This case report underscores the importance of early diagnosis of osteogenesis imperfecta and highlights the need for increased clinical awareness, specialized training, and resource allocation to improve outcomes for patients with rare genetic disorders in low-resource settings.
成骨不全症是一种罕见的遗传性结缔组织疾病，由于胶原蛋白生成缺陷导致骨骼过度脆弱。大多数成骨不全症病例以常染色体显性模式遗传，已确定17种遗传病因。诊断通常基于临床表现和低骨矿物质密度评分，而治疗采用多学科方法，使用双膦酸盐、维生素C和帕米膦酸等药物疗法。最近的研究还探索了新的疗法，包括特立帕肽、地诺单抗和等位基因特异性沉默（埃德鲁等人，《医学与健康科学研究》4（增刊1）：S1 - 5，2014年；巴斯托斯等人，《爱因斯坦（圣保罗）》8：480 - 2，2010年；范·迪克和西伦斯，《美国医学遗传学杂志A》164A（6）：1470 - 81，2014年；苏布拉马尼亚姆和维斯瓦纳坦，《成骨不全症》。载于《StatPearls》。宝藏岛（佛罗里达州）：StatPearls出版社。http://www.ncbi.nlm.nih.gov/books/NBK536957/ 。2023年3月2日访问，2022年）。
一名3周大的非洲裔女新生儿因之前有两道疤痕，通过紧急剖宫产足月分娩。婴儿5分钟时阿氏评分7分，出生体重2.5千克。该新生儿四肢短小且畸形，头部柔软，眼睛呈蓝色。根据临床检查结果和放射学检查，该新生儿被诊断为成骨不全症，检查显示四肢和肋骨处于不同愈合阶段的多处骨质连续性中断。该新生儿通过鼻导管吸氧和静脉注射抗生素进行治疗，但不幸的是在骨科团队会诊前去世。
本病例报告强调了成骨不全症早期诊断的重要性，并突出了在资源匮乏地区提高临床意识、提供专业培训和分配资源以改善罕见遗传疾病患者治疗效果的必要性。
