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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 highlights imaging features and treatment outcomes in pediatric patients with MPS, suggesting enhanced diagnosis strategies.

Key Points

  • Patients with mucopolysaccharidoses (MPS) exhibit severe skeletal abnormalities related to varying MPS subtypes, underscoring the importance of radiological evaluations.
  • Imaging findings revealed common vertebral deformities and hip dysplasia among MPS patients, with follow-up indicating persistent CNS involvement despite treatment.
  • Analysis incorporated conventional radiography and advanced imaging techniques like MRI and CT, focusing on the correlation between radiological and clinical features.
  • Effective management of MPS requires a multidisciplinary approach, emphasizing tailored radiological protocols for better diagnosis and monitoring.

Cite This Study

Silva et al. (2025) studied this question.

synapsesocial.com/papers/68af35e9cf1dd9ea359ea2cdhttps://doi.org/10.3390/app15169093
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Also Consider

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  1. 1A retrospective study on neuropsychiatric presentations of mucopolysaccharidoses2025
  2. 2Distinct Brain Magnetic Resonance Imaging (MRI) Findings Across Mucopolysaccharidosis Types: Novel Insights2025
  3. 3Clinical and oral characteristics in patients affected by mucopolysaccharidosis type IV – A: Case reports2025
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  5. 5MULTIDISCIPLINARY CARE FOR RARE CONDITIONS:DENTAL MANAGEMENT OF MUCOPOLYSACCHARIDOSIS TYPE-VI ;A CASE REPORT2025