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Brain and spinal MR imaging findings in mucopolysaccharidoses: a review

D I Zafeiriou1, S P Batzios

  • 1First Department of Paediatrics, Aristotle University of Thessaloniki, Thessaloniki, Greece. jeff@med.auth.gr

AJNR. American Journal of Neuroradiology
|July 14, 2012
PubMed

Insights

Mucopolysaccharidoses (MPS) are rare genetic disorders affecting the nervous system. Brain and spinal MR imaging are crucial for assessing MPS neurological involvement, severity, and treatment effectiveness.

Area of Science:

  • Neurology
  • Radiology
  • Genetics

Background:

  • Mucopolysaccharidoses (MPS) are rare hereditary disorders causing multisystemic GAG accumulation.
  • Neurological involvement, affecting both central and peripheral nervous systems, is nearly universal in MPS patients.

Purpose of the Study:

  • To review prominent MR imaging features in MPS patients.
  • To correlate neuroimaging findings with disease severity and therapeutic interventions.
  • To discuss MR spectroscopy data in MPS.

Main Methods:

  • Literature review of MR imaging and spectroscopy studies in MPS.
  • Analysis of neuroimaging findings and their physiopathologic basis.
  • Evaluation of treatment effects on MR imaging alterations.

Main Results:

  • MR imaging demonstrates characteristic alterations in the brain and spinal cord of MPS patients.
  • These imaging findings correlate with neurological involvement severity.
  • Therapeutic regimens can influence the progression of MR imaging changes.

Conclusions:

  • MR imaging is a valuable tool for assessing neurological involvement in MPS.
  • Neuroimaging can serve as a marker for disease severity and treatment efficacy.
  • Further research into MR spectroscopy in MPS is warranted.

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