MAGNETIC-RESONANCE-IMAGING AND PROTON SPE CTROSCOPY IN 2 SIBLINGS WITH CANAVANS-DISEASE

We present the findings of magnetic resonance imaging (MRI) and locali sed H-1 magnetic resonance spectroscopy (MRS) in two brothers with Can avan's disease, a rare autosomal recessive leukodystrophy. Urine speci mens of one child were evaluated by MRS. All examinations were perform ed in the same whole body 1.5 T superconducting magnet. MRI revealed t he typical pattern of leukodystrophy including a more severe demyelina tion in the older child. The younger brother showed additional high si gnal lesions in the globi pallid on T-2-weighted images. MRS of the br ain had an elevated ratio of N-acetyl-aspartate (NAA)/phosphocreatin creatin (Cr) while the ratio of Cholin/Cr was reduced. in urine spect roscopy the concentration of NAA was markedly increased. The ratio of NAA/creatin + creatinin was 880 +/- 10% mmol/mol (normal: 5-21 mmol/mo l). Diagnosis of Canavan's disease was supported by gas chromatographi c urine examination with an 80-100 fold elevation of NAA concentration . Hence, the diagnosis of Canavan's disease could be established by in creased ratio of NAA/Cr and decreased ratio of Cho/Cr relation in brai n spectroscopy and high NAA concentration in urine spectroscopy.