European Journal of Pediatrics

, Volume 152, Issue 9, pp 750–753 | Cite as

Magnetic resonance imaging in juvenile Canavan disease

  • P. B. Toft
  • R. Geiß-Holtorff
  • M. O. Rolland
  • O. Pryds
  • W. Müller-Forell
  • E. Christensen
  • W. Lehnert
  • H. C. Lou
  • D. Ott
  • J. Hennig
  • O. Henriksen


We present a 2-year-old boy and a 6-year-old girl with mild Canavan disease (CD). Aspartoacylase activity in skin fibroblasts was deficient. Magnetic resonance imaging (MRI) of the brain did not show the prominent leucodystrophy previously reported in CD, but there was a hyperintense signal from the lentiform nuclei and the heads of the caudate nuclei on the T2-weighted MR images. This suggests a specific vulnerability of the corpus striatum in these patients. In the older patient, the white matter became affected at the age of 6 years. Proton magnetic resonance spectroscopy (1H-MRS) of white matter revealed a normal concentration of N-acetyl-l-aspartate (NAA) and a markedly decreased concentration of choline containing compounds (Cho) in the boy but a normal ratio of NAA to Cho in the girl. We conclude that deficient NAA catabolism affects myelin metabolism. This may present as changes in the striatum and/or as a low concentration of Cho before leucodystrophy appears on MRI.

Key words

Magnetic resonance imaging Spectroscopy Imaging, Canavan disease Brain 



Canavan disease


choline containing compounds


1H-magnetic resonance spectroscopy


magnetic resonance imaging




volume of interest


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Copyright information

© Springer-Verlag 1993

Authors and Affiliations

  • P. B. Toft
    • 1
    • 8
  • R. Geiß-Holtorff
    • 2
  • M. O. Rolland
    • 3
  • O. Pryds
    • 1
  • W. Müller-Forell
    • 4
  • E. Christensen
    • 5
  • W. Lehnert
    • 6
  • H. C. Lou
    • 1
  • D. Ott
    • 7
  • J. Hennig
    • 7
  • O. Henriksen
    • 8
  1. 1.John F. Kennedy InstituteGlostrupDenmark
  2. 2.Department of PaediatricsUniversitätskinderklinik der Johannes Gutenberg-Universität, MainzMainzGermany
  3. 3.Laboratoire de BiochimieHôpital DebrousseLyon Cédex 05France
  4. 4.Institut for NeuroradiologyUniversitätskinderklinik der Johannes Gutenberg-Universität MainzMainzGermany
  5. 5.Department of Clinical GeneticsRigshospitaletCopenhagen ØDenmark
  6. 6.Stoffwechsellabor der Universitätskinderklinik FreiburgFreiburgGermany
  7. 7.Abteilung RöntgendiagnostikRadiologische Universitätsklinik FreiburgFreiburgGermany
  8. 8.The Danish Research Centre of Magnetic ResonanceHvidovre University HospitalHvidovreDenmark

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