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Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI

  • Original Article
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Introduction

Mucopolysaccharidosis type VI (MPS VI) is a rare lysosomal storage disorder caused by the deficient activity of N-acetylgalactosamine 4-sulfatase. MPS VI is usually considered as not being associated with mental retardation.

Aims/methods

The main objective of the present study was to describe brain magnetic resonance imaging (MRI) findings and their correlation with clinical and biochemical findings in MPS VI patients. The study was conducted at Hospital de Clínicas de Porto Alegre, Brazil with 25 MPS VI patients. All patients were evaluated through clinical evaluation, IQ tests, urinary glycosaminoglycans (GAG) analysis, and brain MRI.

Results

Mean age at evaluation was 10.6 ± 4.52 years. Five of 16 patients presented total IQ below the normal range. Brain MRI was abnormal in the majority of patients (n = 19/21), and the most frequent abnormalities found were the presence of dilated perivascular spaces and white matter lesions. Correlations were found between age and normalized white matter lesion load (NLL) (r = 0.46; p = 0.04) and normalized cerebral volume (NCV) (r = −0.56; p = 0.01), between NLL and height deficit (r = 0.48; p = 0.04), and between NCV and weight deficit (r = −0.58; p = 0.01) and height deficit (r = −0.55; p = 0.01). A correlation between urinary GAG levels and quantitative brain MRI findings was not found, neither between qualitative and quantitative brain MRI findings and IQ scores.

Conclusions

MPS VI patients may present abnormal IQ scores without correlation with brain abnormalities on the MRI, a finding which was found to be very frequent in MPS VI. Additional studies are required to confirm our findings.

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Conflict of interest

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Authors and Affiliations

  1. Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil

    Ana C. M. Azevedo, Adriana Pires, Roberto Giugliani & Ida Vanessa D. Schwartz

  2. Department of Genetics, Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil

    Osvaldo Artigalás, Roberto Giugliani & Ida Vanessa D. Schwartz

  3. Genetics Unit, Children’s Hospital, Grupo Hospitalar Conceição, Porto Alegre, Brazil

    Osvaldo Artigalás

  4. Division of Radiology, Hospital Moinhos de Vento, Porto Alegre, Brazil

    Leonardo Vedolin

  5. Neuroradiology Department, Mãe de Deus Center and Hospital Mãe de Deus, Porto Alegre, Brazil

    Márcia Komlós

  6. Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-003, Porto Alegre, RS, Brazil

    Roberto Giugliani

Authors
  1. Ana C. M. Azevedo
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  2. Osvaldo Artigalás
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  3. Leonardo Vedolin
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  4. Márcia Komlós
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  5. Adriana Pires
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  6. Roberto Giugliani
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  7. Ida Vanessa D. Schwartz
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Corresponding author

Correspondence to Roberto Giugliani.

Additional information

Communicated by: Ed Wraith

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Azevedo, A.C.M., Artigalás, O., Vedolin, L. et al. Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI. J Inherit Metab Dis 36, 357–362 (2013). https://doi.org/10.1007/s10545-012-9559-x

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  • DOI: https://doi.org/10.1007/s10545-012-9559-x

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