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

ABSTRACT: Background: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. Methods: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. Results: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.

SUBMITTER: Williams N

PROVIDER: S-EPMC6498821 | biostudies-other | 2019 Mar

REPOSITORIES: biostudies-other

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

Williams Nicole N Willet Jake J Clark Damian D Ketteridge David D

JIMD reports 20190314 1

<h4>Background</h4>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.<h4>Methods</h4>A review of the Medline and EMBASE databases ...[more]

PMID: 31240150

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Project description:ObjectiveWolf-Hirschhorn syndrome (WHS) is a congenital malformation syndrome with poor prognosis. It is associated with a heterozygous deletion of chromosome 4p16.3. Adequate knowledge of prenatal phenotypes and proper prenatal counseling are essential for intrauterine diagnosis.MethodWe retrospectively analyzed 11 prenatal cases of WHS diagnosed using low-depth whole-genome sequencing (copy number variation sequencing) performed at our hospital from May 2017 to September 2022 and reviewed their prenatal ultrasound reports in detail. We also analyzed WHS cases (including prenatal and postnatal) with abnormal prenatal ultrasound findings in the published literature over the past 20 years.ResultsAmong the 11 fetuses with a prenatal diagnosis of WHS in our hospital, four cases showed abnormal prenatal ultrasound findings, including shrunken kidneys, ventricular septal defect, a small stomach, fetal growth restriction (FGR), enlarged posterior fossa, and soft ultrasonic markers. Our four cases were combined with 114 published WHS cases with prenatal ultrasound abnormalities from other medical institutions. Of the 118 cases, 59.3% (70 of 118) were multiple malformations. The most frequent ultrasound features observed in all 118 cases were FGR (76.3%, 90 of 118), followed by facial anomalies (28.8%, 34 of 118), central nervous system anomalies (27.1%, 32 of 118), and soft ultrasound markers (23.7%, 28 of 118). Other less common phenotypes included cardiac anomalies (19.5%, 23 of 118), genitourinary anomalies (19.5%, 23 of 118), increased NT/NF (12.7%, 15 of 118), skeletal anomalies (11.9%, 14 of 118), a single umbilical artery (10.2%, 12 of 118), gastrointestinal anomalies (9.3%, 11 of 118), oligohydramnios (8.5%, 10 of 118), cystic hygroma (5.1%, six of 118), hydrops/pleural effusion/ascites (2.5%, three of 118), and polyhydramnios (2.5%, three of 118).ConclusionThis study improved our understanding of the prenatal presentation of WHS by analyzing prenatal ultrasound abnormalities. The timely identification of prenatal ultrasound abnormalities can provide accurate consultation for pregnant women, improve the prenatal detection of WHS, and enable early prenatal management and intervention of WHS.

Dataset Information

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

Publications

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

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