Document Detail

Magnetic resonance imaging in juvenile Canavan disease.
MedLine Citation:
PMID:  8223809     Owner:  NLM     Status:  MEDLINE    
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.
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
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  European journal of pediatrics     Volume:  152     ISSN:  0340-6199     ISO Abbreviation:  Eur. J. Pediatr.     Publication Date:  1993 Sep 
Date Detail:
Created Date:  1993-12-03     Completed Date:  1993-12-03     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7603873     Medline TA:  Eur J Pediatr     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  750-3     Citation Subset:  IM    
John F. Kennedy Institute, Glostrup, Denmark.
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MeSH Terms
Amidohydrolases / deficiency
Aspartic Acid / analogs & derivatives,  metabolism
Brain / metabolism
Canavan Disease / diagnosis*,  enzymology,  metabolism
Child, Preschool
Choline / metabolism
Corpus Striatum / pathology
Magnetic Resonance Imaging
Magnetic Resonance Spectroscopy / diagnostic use
Myelin Proteins / metabolism
Reg. No./Substance:
0/Myelin Proteins; 56-84-8/Aspartic Acid; 62-49-7/Choline; 997-55-7/N-acetylaspartate; EC 3.5.-/Amidohydrolases; EC

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