Williams Nicole, Willet Jake, Clark Damian, Ketteridge David
Department of Orthopaedic Surgery Women's and Children's Hospital Adelaide Australia.
Centre for Orthopaedic and Trauma Research University of Adelaide Adelaide Australia.
JIMD Rep. 2019 Mar 14;46(1):16-22. doi: 10.1002/jmd2.12021. eCollection 2019 Mar.
The mucopolysaccharidoses (MPS) are a group of inherited, progressive, multi-system lysosomal storage disorders. Musculoskeletal manifestations include nerve entrapment syndromes, most commonly carpal tunnel syndrome. Tarsal tunnel syndrome (TTS) has also been reported. The purpose of this study was to investigate the clinical course of MPS patients with suspected TTS and to conduct a literature review of TTS in MPS.
A review of the Medline and EMBASE databases was conducted in accordance with published guidelines from the Joanna Briggs Institute of Evidence Based Medicine with search strategy developed by a librarian trained in systematic reviews. A medical record review was undertaken for all patients managed in the multi-disciplinary MPS clinic in a tertiary referral paediatric centre, identifying patients with a suspected or established diagnosis of TTS. Data regarding the demographics, investigations, presentation, management, and clinical course were collected.
The literature review failed to identify any published papers regarding TTS in MPS, with conference proceedings only identified. Within a cohort of 19 MPS patients, four patients with a suspected diagnosis of TTS were identified (MPS I: two patients, MPS VI: two patients). Three patients underwent surgical tarsal tunnel decompression, two with good result. One patient had overlapping symptoms with spinal stenosis and improvement in suspected tarsal tunnel symptoms following spinal decompression and fusion.
黏多糖贮积症(MPS)是一组遗传性、进行性、多系统溶酶体贮积症。肌肉骨骼表现包括神经卡压综合征,最常见的是腕管综合征。也有跗管综合征(TTS)的报道。本研究的目的是调查疑似TTS的MPS患者的临床病程,并对MPS中TTS的相关文献进行综述。
按照乔安娜·布里格斯循证医学研究所发布的指南,由一名接受过系统评价培训的图书馆员制定检索策略,对Medline和EMBASE数据库进行检索。对一家三级转诊儿科中心的多学科MPS诊所管理的所有患者的病历进行回顾,确定疑似或确诊为TTS的患者。收集有关人口统计学、检查、临床表现、治疗和临床病程的数据。
文献综述未发现任何关于MPS中TTS的已发表论文,仅检索到会议论文集。在19例MPS患者队列中,确定了4例疑似TTS的患者(MPS I:2例患者,MPS VI:2例患者)。3例患者接受了跗管减压手术,2例效果良好。1例患者同时存在脊柱狭窄症状,在脊柱减压融合术后疑似跗管症状有所改善。