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JIMD Rep. 2019 Mar 14;46(1):16-22. doi: 10.1002/jmd2.12021. eCollection 2019 Mar.

Tarsal tunnel syndrome in the mucopolysaccharidoses: A case series and literature review.

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Department of Orthopaedic Surgery Women's and Children's Hospital Adelaide Australia.
Centre for Orthopaedic and Trauma Research University of Adelaide Adelaide Australia.
Training Medical Officer Unit, Royal Adelaide Hospital Adelaide Australia.
Department of Neurology Women's and Children's Hospital Adelaide Australia.
Department of Genetics and Molecular Pathology Women's and Children's Hospital Adelaide Australia.



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.


decompression, surgical; genetic diseases, inborn; mucopolysaccharidoses; orthopaedics; paediatrics; tarsal tunnel syndrome

Conflict of interest statement

A/Prof Nicole Williams has received honoraria, travel and travel expenses to attend educational medical symposia and research grants from BioMarin Pharmaceutical Inc. Dr Jake Willett and Dr Damian Clark declare that they have no conflict of interest. Dr David Ketteridge has received honoraria and travel expenses to attend educational medical symposia from BioMarin Pharmaceutical Inc.

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