MR imaging of the brain in patients with mucopolysaccharidosis

AJNR Am J Neuroradiol. 1989 Nov-Dec;10(6):1165-70.

Abstract

MR imaging of the brain was performed in eight patients with mucopolysaccharidosis (MPS). Two had MPS I S, one had MPS IIA, two had MPS IIB, two had MPS IIIB, and one had MPS VI. In the patients with MPS IIA and MPS VI, T1 and T2 were prolonged in various areas of the cerebral white matter. These findings seemed to correspond with the development of pathologic changes in MPS, such as perivascular pits in the white matter observed on slices of the fixed brain. In the patients with MPS IIA and MPS IIIB, the white matter did not show the proper signal intensity, which suggested that myelination was insufficient and that infiltration or deposition of glycosaminoglycan had occurred; this was consistent with the association of these two types with mental retardation. In the patients with MPS I S, no intracranial abnormalities were detected on MR images. MR imaging of the brain may be used to obtain a differential diagnosis of the various types of MPS, to estimate the extent of mental retardation, and to monitor the progress of this disease.

MeSH terms

  • Atrophy
  • Brain / diagnostic imaging
  • Brain / pathology*
  • Cerebral Ventricles / pathology
  • Cerebral Ventriculography
  • Electron Spin Resonance Spectroscopy
  • Humans
  • Magnetic Resonance Imaging*
  • Mucopolysaccharidoses / diagnosis*
  • Mucopolysaccharidoses / diagnostic imaging
  • Tomography, X-Ray Computed