Bhatnagar Nishit, Lingaiah Purushotham, Lodhi Jeetendra Singh, Karkhur Yugal
Department of Orthopaedic Surgery, Maulana Azad Medical College & Associated Lok Nayak Hospital, New Delhi, India.
J Bone Metab. 2017 May;24(2):135-139. doi: 10.11005/jbm.2017.24.2.135. Epub 2017 May 31.
Wilson's disease (WD) is a rare inherited disorder of copper metabolism. It chiefly has hepatic, neurological and ophthalmic manifestations. Although osteoporosis, rickets and early arthritis are common features of WD, they are under-recognized. Musculoskeletal manifestations very rarely lead to diagnosis of the disease. Here we present a case of a 12-year-old girl who presented with a 3-month-old pathological fracture of neck of femur. WD was diagnosed on investigating the cause of the pathological fracture, which was managed by performing a conventional McMurray's intertrochanteric osteotomy. At 6 months follow up, fracture had united and patient was able to ambulate with support. WD can be a rare cause of pathological fracture. A high index of suspicion must be maintained in patients of pathological fracture presenting with associated neuropsychiatric or hepatic manifestations.
威尔逊病(WD)是一种罕见的铜代谢遗传性疾病。它主要有肝脏、神经和眼部表现。虽然骨质疏松症、佝偻病和早期关节炎是WD的常见特征,但它们未得到充分认识。肌肉骨骼表现很少导致该疾病的诊断。在此,我们报告一例12岁女孩,她因股骨颈病理性骨折3个月前来就诊。通过对病理性骨折的病因进行调查诊断为WD,采用传统的麦克默里粗隆间截骨术进行治疗。在6个月的随访中,骨折已愈合,患者能够在辅助下行走。WD可能是病理性骨折的罕见原因。对于伴有相关神经精神或肝脏表现的病理性骨折患者,必须保持高度的怀疑指数。