Erdil Mehmet, Bilsel Kerem, Imren Yunus, Ceylan Hasan Huseyin, Tuncay Ibrahim
Orthopedics and Traumatology Department, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.
J Med Case Rep. 2012 Jul 9;6:190. doi: 10.1186/1752-1947-6-190.
Congenital insensitivity to pain, a rare neurological entity, is characterized by varying degrees of sensory loss and autonomic dysfunction. Orthopedic manifestations of congenital insensitivity to pain include delayed diagnosis of fractures, nonunions, malunions, Charcot arthropathy, acro-osteolysis, avascular necrosis, osteomyelitis, heterotopic ossification and joint dislocations. We here report the case of a patient with congenital insensitivity to pain who had multiple lower extremity fractures at varying intervals, the most recent being a femoral neck fracture managed by total hip replacement. To the best of our knowledge, this is the first report of cementless hip arthroplasty in such a patient.
A 37-year-old Caucasian woman was admitted to our hospital complaining of painless swellings in her lower limb and limping. She had been diagnosed with multiple lower extremity fractures at different times. On physical examination, we found multiple perioral mucosal ulcers, shortening of her nails and acro-osteolysis, a prematurely aged facial appearance, undersized skeletal structure, Charcot arthropathy of her right ankle, anosmia, insensitivity to temperature differences and evidence of mild intellectual disability. A right subtrochanteric femur fracture was treated with an intramedullary nail. Eighteen months later, she presented with similar symptoms and we diagnosed a right femoral neck fracture. We removed the nail and performed cementless total right hip arthroplasty.
Congenital insensitivity to pain is a rare condition that is associated with severe orthopedic problems. This case report, which will be of particular interest to orthopedic surgeons, presents several difficulties in the management of patients with congenital insensitivity to pain and notes the importance of close follow-up and early recognition of complications. Cementless total hip arthroplasty may be a good therapeutic option for femoral neck fracture in these patients.
先天性无痛觉是一种罕见的神经疾病，其特征为不同程度的感觉丧失和自主神经功能障碍。先天性无痛觉的骨科表现包括骨折延迟诊断、骨不连、畸形愈合、夏科氏关节病、肢端骨质溶解、缺血性坏死、骨髓炎、异位骨化和关节脱位。我们在此报告一例先天性无痛觉患者的病例，该患者在不同时间间隔出现多次下肢骨折，最近一次为股骨颈骨折，通过全髋关节置换术进行治疗。据我们所知，这是此类患者行非骨水泥型髋关节置换术的首例报告。
一名37岁的白人女性因下肢无痛性肿胀和跛行入住我院。她曾在不同时间被诊断为多次下肢骨折。体格检查时，我们发现多处口周黏膜溃疡、指甲缩短和肢端骨质溶解、面部过早衰老、骨骼结构过小、右踝关节夏科氏关节病、嗅觉丧失、对温度差异不敏感以及轻度智力残疾的迹象。右侧转子下股骨骨折采用髓内钉治疗。18个月后，她出现类似症状，我们诊断为右侧股骨颈骨折。我们取出髓内钉并进行了非骨水泥型右侧全髋关节置换术。
先天性无痛觉是一种罕见疾病，与严重的骨科问题相关。本病例报告对骨科医生具有特别的意义，它呈现了先天性无痛觉患者管理中的几个困难，并指出密切随访和早期识别并发症的重要性。非骨水泥型全髋关节置换术可能是这些患者股骨颈骨折的良好治疗选择。
