Magnetic resonance imaging in juvenile Canavan disease
- 121 Downloads
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 wordsMagnetic resonance imaging Spectroscopy Imaging, Canavan disease Brain
choline containing compounds
1H-magnetic resonance spectroscopy
magnetic resonance imaging
volume of interest
Unable to display preview. Download preview PDF.
- 2.Bottomley PA (1987) Spatial localization in NMR spectroscopy in vivo. NY Acad Sci 508:333–348Google Scholar
- 6.Edwards MK, Bonin JM (1991) White matter diseases. In: Atlas SW (ed) Magnetic resonance imaging of the brain and spine, 2nd edn. Raven Press, New York, pp 486–487Google Scholar
- 7.Frahm J, Michaelis T, Merboldt KD, Bruhn H, Gyngell ML, Hänicke W (1990) Improvements in localized proton NMR spectroscopy of human brain. Water suppression, short echo times, and 1 ml resolution. Magn Reson Med 90:464–473Google Scholar
- 15.Miller BL (1991) A review of chemical issue in 1H NMR spectroscopy: N-acetyl-L-aspartate, creatine and choline. NMR Biomed 4:47–52Google Scholar
- 17.Valk J, Knaap MS van der (1989) Magnetic resonance of myelin, myelination and myelin disorders. Springer, Berlin Heidelberg New York, pp 137–139Google Scholar