Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.

Autor:	Behrndt L; Department of Orthopedics and Rehabilitation, Doernbecher Children's Hospital and Oregon Health & Science University., Gregory A; Departments of Molecular and Medical Genetics., Wakeman K; Departments of Molecular and Medical Genetics., Freed A; Departments of Molecular and Medical Genetics., Wilson JL; Division of Pediatric Neurology, Oregon Health & Science University, Portland, OR., Spaull R; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health.; Department of Neurology, Great Ormond Street Hospital, London., Kurian MA; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health.; Department of Neurology, Great Ormond Street Hospital, London., Mordekar S; Departments of Paediatric Neurology., Fernandes JA; Paediatric Orthopaedics, Trauma and Spinal Surgery, Sheffield Children's NHS Foundation Trust, Clarkson St, Sheffield, UK., Hayflick SJ; Molecular and Medical Genetics, Pediatrics and Neurology., Hogarth P; Molecular and Medical Genetics and Neurology., Yang S; Department of Orthopaedics and Sports Medicine, Seattle Children's Hospital, Seattle, WA.
Jazyk:	angličtina
Zdroj:	Journal of pediatric orthopedics [J Pediatr Orthop] 2024 Jan 01; Vol. 44 (1), pp. e61-e68. Date of Electronic Publication: 2023 Oct 23.
DOI:	10.1097/BPO.0000000000002555
Abstrakt:	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. Competing Interests: The authors declare no conflicts of interest. (Copyright © 2023 Wolters Kluwer Health, Inc. All rights reserved.)
Databáze:	MEDLINE
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