Abstract:
Background: Although certain genetic components have been reported as contributing factors for Perthes disease, its etiology remains unclear. We present a rare case of Perthes disease in a child with osteogenesis imperfecta (OI) caused by a mutation in the COL1A1 gene (NM_000088):exon25:c.1726C>T, (p.Gln576X). Case presentations: A 7-year-old boy was initially treated at our medical facility in March 2016 with a history of chronic pain in right hip joint and limping for a year. He was diagnosed as Perthes disease in the right hip joint. He underwent acetabular osteotomy and ipsilateral proximal femoral varus osteotomy for better containment. During the follow-ups, the right hip demonstrated a normal range of motion without pain, and the pelvic X-ray demonstrated Stulberg Type II hip joint with a round femoral head. In the latest admission in 2022, he suffered from a right femoral shaft fracture after petty violence. After reviewing his medical history, he was suspected of having OI. The whole exome sequencing demonstrated a gene mutation in COL1A1 (OMIM 166200) and confirmed the diagnosis of OI. Telescopic nailing was used to treat the femoral shaft fracture. After the nailing of the right femur, the appearance of the lower extremity seemed normal and symmetrical. Conclusion: This study revealed that there might be an association between OI and Perthes disease. Our case report enriches the phenotypes of osteogenesis imperfecta and provides insight into the pathogenesis of LCPD.
摘要:
背景:尽管某些遗传成分已被报道为导致Perthes病的因素,其病因尚不清楚。我们介绍了一例罕见的Perthes病病例,该病例是由COL1A1基因突变(NM_000088)引起的成骨不全症(OI):exon25:c.1726C>T,(p.Gln576X)。病例介绍:2016年3月,一名7岁男孩最初在我们的医疗机构接受治疗,有右髋关节慢性疼痛史,跛行一年。他被诊断为右髋关节的Perthes病。他接受了髋臼截骨术和同侧股骨近端内翻截骨术,以更好地容纳。在后续行动中,右髋部表现出正常的活动范围,没有疼痛,骨盆X线显示StulbergII型髋关节,股骨头圆形。在2022年的最新入院中,他在轻微暴力后患有右股骨干骨折。回顾了他的病史后,他被怀疑有OI.全外显子组测序显示COL1A1(OMIM166200)基因突变,并证实了OI的诊断。采用伸缩钉治疗股骨干骨折。在右股骨钉后,下肢的外观看起来正常且对称。结论:这项研究表明,OI与Perthes病之间可能存在关联。我们的病例报告丰富了成骨不全症的表型,并提供了对LCPD发病机理的见解。