6533b82efe1ef96bd1293d5f

RESEARCH PRODUCT

Magnetic resonance imaging in juvenile Canavan disease

P. B. ToftR. Geiß-holtorffM. O. RollandO. PrydsW. Müller-forellE. ChristensenW. LehnertH. C. LouD. OttJ. HennigO. Henriksen

subject

MalePathologymedicine.medical_specialtyMagnetic Resonance SpectroscopyCanavan DiseaseStriatumAmidohydrolasesCholineWhite matterMyelinchemistry.chemical_compoundDegenerative diseasemedicineHumansCholineChildAspartic Acidmedicine.diagnostic_testbusiness.industryBrainMagnetic resonance imagingmedicine.diseaseMagnetic Resonance ImagingCorpus StriatumCanavan diseasemedicine.anatomical_structurenervous systemchemistryChild PreschoolPediatrics Perinatology and Child HealthFemaleAspartoacylase activitybusinessMyelin Proteins

description

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.

yearjournalcountryeditionlanguage
1993-09-01European Journal of Pediatrics
https://doi.org/10.1007/bf01953994