van der Knaap syndrome: MR imaging findings including FLAIR, diffusion imaging, and proton MR spectroscopy

Abstract.

A patient is reported with diffuse leukoencephalopathy associated with cystic degeneration of the white matter of the brain (van der Knaap syndrome). The changes were studied by fluid attenuated inversion recovery (FLAIR), and diffusion-weighted MR imaging. The FLAIR sequence revealed suppressed signal of the cysts, and widespread high-signal white matter changes associated with thinned cortices. On diffusion-weighted MR imaging, apparent diffusion coefficient (ADC) values ranged from 3.0 × 10^–3 to 2.7 × 10^–3 mm²/s in the temporal cysts, similar to that of CSF. The ADC values within the parenchyma ranged between 2 × 10^–3 and 2.1 × 10^–3 mm²/s, a value falling between normal parenchyma and cerebrospinal fluid, compared with a control group of three healthy subjects. The changes were also evaluated by proton MR spectroscopy, and were compared with a control group of 12 cases. Magnetic resonance spectroscopy revealed apparently increased NAA/Cr ratios in most parts of the brain. The NAA/Cho ratios were either high or low, and the Cho/Cr ratios were increased or normal in different regions.