Pelizaeus-Merzbacher disease: diffusion MR imaging and proton MR spectroscopy findings.

A 5-Year-old boy is reported with genetically confirmed Pelizaeus-Merzbacher disease. On chemical-shift spectroscopic imaging choline (Cho) peaks were prominently decreased in the white matter resulting in markedly high NAA/Cho ratios, and low Cho/Cr ratios, compared to five control cases. Low Cho levels could be indicative of the dysmyelinating disorder in the disease. On b=1000 s/mm(2) images of diffusion MRI, a tigroid pattern was evident, and there was no apparent signal abnormality. However, on ADC maps high signal and high ADC values were evident in the white matter ranging from 1.16 to 1.52 X 10(-3) mm(2)/s, compared to the ADC values of nine control cases, consistent with some disintegration of the white matter secondary to lack of myelination. On the other hand, the ADC values of the cortex were normal (0.79-0.95 X 10(- 3) mm(2)/s). These findings on spectroscopy and diffusion MRI likely represented deficient myelination in the disease.