Use of computed tomography, magnetic resonance imaging, and localized 1H magnetic resonance spectroscopy in Canavan's disease: a case report

Ann Neurol. 1991 Jul;30(1):106-10. doi: 10.1002/ana.410300120.

Abstract

The neuroradiological evaluation of Canavan's disease in a 38-month-old girl is discussed. Computed tomography showed diffuse symmetrical low attenuation values of the subcortical and deep cerebral white matter. Magnetic resonance imaging demonstrated symmetrical diffuse low signal intensity on T1-weighted images and high signal intensity on T2-weighted images. With the use of 1H magnetic resonance spectroscopy, we were able to show elevated levels of N-acetylaspartic acid in the occipital lobe of our patient. The in vivo measurement of N-acetylaspartic acid in the brain by 1H magnetic resonance spectroscopy offers an additional noninvasive diagnostic test for establishing the diagnosis of Canavan's disease. With the increasing availability of magnetic resonance spectroscopy, clinicians may be able to confirm the diagnosis of Canavan's disease immediately after magnetic resonance imaging reveals the typical abnormalities of the white matter.

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / diagnostic imaging
  • Amino Acid Metabolism, Inborn Errors / metabolism
  • Amino Acid Metabolism, Inborn Errors / pathology*
  • Aspartic Acid / analogs & derivatives*
  • Aspartic Acid / analysis
  • Brain Diseases, Metabolic / diagnosis
  • Brain Diseases, Metabolic / diagnostic imaging
  • Brain Diseases, Metabolic / metabolism
  • Brain Diseases, Metabolic / pathology*
  • Child, Preschool
  • Choline / metabolism
  • Demyelinating Diseases
  • Female
  • Humans
  • Lactates / metabolism
  • Lactic Acid
  • Magnetic Resonance Imaging*
  • Magnetic Resonance Spectroscopy*
  • Mitochondria / metabolism
  • Occipital Lobe / chemistry
  • Tomography, X-Ray Computed*

Substances

  • Lactates
  • Aspartic Acid
  • Lactic Acid
  • N-acetylaspartate
  • Amidohydrolases
  • aspartoacylase
  • Choline