title: Magnetic resonance imaging in juvenile Canavan disease.
abstract: 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.
authors.affiliation: John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: P B
authors.initials: PB
authors.lastname: Toft
authors.forename: R
authors.initials: R
authors.lastname: Geiss-Holtorff
authors.forename: M O
authors.initials: MO
authors.lastname: Rolland
authors.forename: O
authors.initials: O
authors.lastname: Pryds
authors.forename: W
authors.initials: W
authors.lastname: Müller-Forell
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: W
authors.initials: W
authors.lastname: Lehnert
authors.forename: H C
authors.initials: HC
authors.lastname: Lou
authors.forename: D
authors.initials: D
authors.lastname: Ott
authors.forename: J
authors.initials: J
authors.lastname: Hennig
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000378:metabolism; D017825:Canavan Disease / Q000175:diagnosis* / Q000201:enzymology / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003342:Corpus Striatum / Q000473:pathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009185:Myelin Proteins / Q000378:metabolism
chemical_list: D009185:Myelin Proteins; D001224:Aspartic Acid; C000179:N-acetylaspartate; D000581:Amidohydrolases; C019751:aspartoacylase; D002794:Choline