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August 18, 2025Applied SciencesOpen Access

Radiological and Neuroradiological Features in Pediatric Mucopolysaccharidoses: A Retrospective Case Series from the Emilia-Romagna Regional Referral Center

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Authors

GSGiovanni Faria SilvaEBElisa BortolamediMBMichelangelo Baldazzi

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Overview

Retrospective case series reveals severe CNS impairment and bone issues in children with MPS, indicating the importance of radiological evaluation.

Key Points

  • Imaging revealed common skeletal abnormalities in children with mucopolysaccharidoses, pointing to significant clinical implications.
  • The cohort included patients with different MPS subtypes, specifically MPS I, II, III, and IV, highlighting diverse presentations.
  • Retrospective analysis of imaging findings included X-rays, MRI, and CT, correlating with each patient's clinical progress.
  • Findings suggest that tailored radiological assessments are crucial for managing MPS, as disease progression can occur despite treatment.

Cite This Study

Silva et al. (2025) studied this question.

synapsesocial.com/papers/68af4953ad7bf08b1ead50e7https://doi.org/10.3390/app15169093
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Multisystem Involvement in a Pediatric Patient With Suspected Mucopolysaccharidosis: A Case Report2024
  2. 2A Rare Case of Mucopolysaccharidosis Presenting With Dysostosis Multiplex and Preserved Intelligence in a Seven-Year-Old Girl From Northeast India2026
  3. 3A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses2025
  4. 4Distinct Brain Magnetic Resonance Imaging (MRI) Findings Across Mucopolysaccharidosis Types: Novel Insights2025
  5. 5Clinical and oral characteristics in patients affected by mucopolysaccharidosis type IV – A: Case reports2025