[Magnetic resonance tomography and localized proton spectroscopy in 2 siblings with Canavan's disease].
We present the findings of magnetic resonance imaging (MRI) and localised 1H magnetic resonance spectroscopy (MRS) in two brothers with Canavan's disease, a rare autosomal recessive leukodystrophy. Urine specimens of one child were evaluated by MRS. All examinations were performed in the same whole body 1.5 T superconducting magnet. MRI revealed the typical pattern of leukodystrophy including a more severe demyelination in the older child. The younger brother showed additional high signal lesions in the globi pallidi on T2-weighted images. MRS of the brain had an elevated ratio of N-acetyl-aspartate (NAA)/phosphocreatin + creatin (Cr) while the ratio of Cholin/Cr was reduced. in urine spectroscopy the concentration of NAA was markedly increased. The ratio of NAA/creatin + creatinin was 880 +/- 10% mmol/mol (normal: 5-21 mmol/mol). Diagnosis of Canavan's disease was supported by gas chromatographic urine examination with an 80-100 fold elevation of NAA concentration. Hence, the diagnosis of Canavan's disease could be established by increased ratio of NAA/Cr and decreased ratio of Cho/Cr relation in brain spectroscopy and high NAA concentration in urine spectroscopy.
Engelbrecht
V
V
Institut für Diagnostische Radiologie, Heinrich-Heine-Universität Düsseldorf.
Rassek
M
M
Gärtner
J
J
Kahn
T
T
Mödder
U
U
D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism / Q000652:urine; D001921:Brain / Q000378:metabolism*; D017825:Canavan Disease / Q000175:diagnosis* / Q000378:metabolism* / Q000652:urine; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D002849:Chromatography, Gas; D003401:Creatine / Q000378:metabolism; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D010725:Phosphocreatine / Q000378:metabolism
D010725:Phosphocreatine; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline