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Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation

  • Diagnostic Neuroradiology
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Abstract

Our objective was to determine the brain magnetic resonance imaging (MRI) abnormalities in a selected group of patients with mucopolysaccharidosis (MPS) types I and II who had only mild clinical manifestations. We retrospectively assessed MRI brain studies in 18 patients with MPS (type I: 6 and type II: 12). We evaluated abnormal signal intensity in the white matter, widening of the cortical sulci, size of the supratentorial ventricles, dilatation of the perivascular spaces (PVS) and enlargement of the subarachnoid spaces. We observed a broad spectrum of findings, and despite severely abnormal MRI studies, no patients had mental retardation. We also observed that dilated PVS, previously believed to be caused by macroscopic deposition of the mucopolysaccharides, had an appearance similar to cerebrospinal fluid (CSF) in all MRI sequences performed, even in FLAIR and trace diffusion weighted images. Based on our results, we believe that with the exception of white matter abnormalities and brain atrophy, all other findings may be related to abnormal resorption of CSF, and there is no relationship between the imaging and clinical manifestations of the disease.

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Authors and Affiliations

  1. Department of Radiology, University of North Carolina School of Medicine , Chapel Hill, NC, 27599–7510, USA

    M. Gisele Matheus, Mauricio Castillo & J. Keith Smith

  2. Department of Pathology, University of North Carolina School of Medicine, Chapel Hill, NC, USA

    Diane Armao

  3. Department of Genetics and Metabolism, University of North Carolina School of Medicine, Chapel Hill, NC, USA

    Diane Towle & Joseph Muenzer

Authors
  1. M. Gisele Matheus
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  2. Mauricio Castillo
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  3. J. Keith Smith
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  4. Diane Armao
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  5. Diane Towle
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  6. Joseph Muenzer
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Correspondence to Mauricio Castillo.

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Matheus, M.G., Castillo, M., Smith, J.K. et al. Brain MRI findings in patients with mucopolysaccharidosis types I and II and mild clinical presentation. Neuroradiology 46, 666–672 (2004). https://doi.org/10.1007/s00234-004-1215-1

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  • DOI: https://doi.org/10.1007/s00234-004-1215-1

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