Magnetic resonance imaging in juvenile Canavan disease
| Autor: | 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 |
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| Rok vydání: | 1993 |
| Předmět: |
Male
Pathology medicine.medical_specialty Magnetic Resonance Spectroscopy Canavan Disease Striatum Amidohydrolases Choline White matter Myelin chemistry.chemical_compound Degenerative disease medicine Humans Child Aspartic Acid medicine.diagnostic_test business.industry Brain Magnetic resonance imaging medicine.disease Magnetic Resonance Imaging Corpus Striatum Canavan disease medicine.anatomical_structure nervous system chemistry Child Preschool Pediatrics Perinatology and Child Health Female Aspartoacylase activity business Myelin Proteins |
| Zdroj: | European Journal of Pediatrics. 152:750-753 |
| ISSN: | 1432-1076 0340-6199 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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