BACKGROUND Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, neurodegenerative disorder that manifests with progressive loss of ambulation and refractory dystonia, especially in the early-onset classic form. This leads to osteopenia and stress on long bones, which pose an increased risk of atraumatic femur fractures. The purpose of this study is to describe the unique challenges in managing femur fractures in PKAN and the effect of disease manifestations on surgical outcomes. METHODS A retrospective case review was conducted on 5 patients (ages 10 to 20 y) with PKAN with a femur fracture requiring surgical intervention. Data regarding initial presentation, surgical treatment, complications, and outcomes were obtained. RESULTS All patients were non-ambulatory, with 4 of 5 patients sustaining an atraumatic femur fracture in the setting of dystonia episode. One patient had an additional contralateral acetabular fracture. Postoperatively, 4 of the 5 patients sustained orthopaedic complications requiring surgical revision, with 3 of these secondary to dystonia. Overall, 4 required prolonged hospitalization in the setting of refractory dystonia. CONCLUSION Femur fractures in PKAN present distinct challenges for successful outcomes. A rigid intramedullary rod with proximal and distal interlocking screws is most protective against surgical complications associated with refractory dystonia occurring during the postoperative period. Multidisciplinary planning for postoperative care is essential and may include aggressive sedation and pain management to decrease the risk of subsequent injuries or complications. LEVEL OF EVIDENCE Level IV.

中文翻译：

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5 名泛酸激酶相关神经变性患者的股骨骨折：肌张力障碍的作用和建议的治疗。

背景泛酸激酶相关神经变性（PKAN）是一种罕见的神经退行性疾病，表现为进行性行走能力丧失和难治性肌张力障碍，尤其是早发的经典形式。这会导致骨质减少和长骨压力，从而增加非创伤性股骨骨折的风险。本研究的目的是描述 PKAN 股骨骨折治疗的独特挑战以及疾病表现对手术结果的影响。方法 对 5 例 PKAN 股骨骨折需要手术干预的患者（年龄 10 至 20 岁）进行回顾性病例分析。获得了有关初次表现、手术治疗、并发症和结果的数据。结果 所有患者均不能行走，5 名患者中有 4 名在肌张力障碍发作时发生非创伤性股骨骨折。一名患者还有另一处对侧髋臼骨折。术后，5 名患者中有 4 名出现骨科并发症，需要进行手术修复，其中 3 名继发肌张力障碍。总体而言，4 名患者因难治性肌张力障碍需要长期住院治疗。结论 PKAN 股骨骨折对成功治疗提出了独特的挑战。带有近端和远端互锁螺钉的刚性髓内棒对于术后发生的难治性肌张力障碍相关的手术并发症具有最大的保护作用。术后护理的多学科规划至关重要，可能包括积极镇静和疼痛管理，以降低随后受伤或并发症的风险。证据级别 IV 级。