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New insights in mucopolysaccharidosis type VI: neurological perspective

Felippe Borlot1, Paula Ricci Arantes2, Caio Robledo Quaio1

  • 1Genetics Unit, Instituto da Criança, Faculdade de Medicina da Universidade de São Paulo (USP), Brazil.

Brain & Development
|August 27, 2013
PubMed
Abstract

Insights

Enzyme-replacement therapy for Mucopolysaccharidosis type VI (MPS VI) patients shows universal neuroaxis involvement, even in those without symptoms. Neurological exams may not reflect disease severity, highlighting the need for imaging in MPS VI management.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mucopolysaccharidosis type VI (MPS VI) is a rare genetic disorder caused by arylsulfatase B deficiency.
  • Limited data exists on neurological complications in MPS VI patients undergoing enzyme-replacement therapy (ERT).

Purpose of the Study:

  • To investigate neurological and MRI findings in MPS VI patients receiving ERT.
  • To assess the correlation between clinical presentation and neuroimaging results.

Main Methods:

  • Cross-sectional study of six biochemically confirmed MPS VI patients.
  • Minimum of 105 consecutive weeks (two years) of intravenous ERT.
  • Comprehensive clinical examination and brain/spinal cord MRI.

Main Results:

  • Cognition was preserved; hearing impairment and altered reflexes/sensation noted in some.
  • MRI revealed morphological changes in the middle cranial fossa and sella.
  • Spinal cord compression, atlantoaxial subluxation, and cervical stenosis were observed.
  • All patients exhibited degenerative vertebral column changes.

Conclusions:

  • Neuroaxis involvement is universal in MPS VI patients on ERT.
  • Neurological examination may not predict disease severity.
  • Imaging is crucial as neurological involvement can be asymptomatic.
Keywords:
AtlantoaxialEnzyme-replacementMiddle cranial fossaMucopolysaccharidosis type VISubluxation

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