Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders

J Comput Assist Tomogr. 1992 May-Jun;16(3):335-44. doi: 10.1097/00004728-199205000-00001.

Abstract

Noninvasive studies of cerebral metabolism were performed with use of localized proton MR spectroscopy (MRS) in both healthy controls (n = 4, age 6 weeks to 2 years) and infants (n = 4, age 3-15 months) who had impaired peroxisomal functions classified as variants of Zellweger syndrome. All patients revealed a marked decrease of N-acetylaspartate in white and gray matter, thalamus, and cerebellum, indicating impairment of normal neuronal development as well as neuronal loss. In two cases an increase of cerebral glutamine and a decrease of the cytosolic polyol myo-inositol in gray matter and striatum reflected the impact of a concomitant effect on hepatic function. Two cases 3 and 6 months of age exhibited a notable elevation of mobile lipids and/or cholesterol in white matter. These patients with severe disease died within 4 weeks after the MRS examination. While an increase of free fatty acids generally associated with a lysosomal storage disease was not consistently observed by proton MRS of brain, this technique provides a convenient and safe tool for the direct assessment of neuropathologic aspects of Zellweger syndrome such as neuronal degeneration, demyelination, and consequences of compromised liver function.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenoleukodystrophy / metabolism*
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Brain / metabolism*
  • Female
  • Glutamine / metabolism
  • Humans
  • Infant
  • Inositol / metabolism
  • Magnetic Resonance Spectroscopy
  • Zellweger Syndrome / metabolism*

Substances

  • Glutamine
  • Aspartic Acid
  • Inositol
  • N-acetylaspartate