Canavan disease: diffusion magnetic resonance imaging findings

A 15-month-old boy with Canavan disease is reported in whom a restricted diffusion pattern on diffusion magnetic resonance imaging (MRI) (high signal on b = 1,000 mm2/s images and low apparent diffusion coefficient ADC] values) was evident in the affected regions of the brain, including the peripheral white matter, globi pallidi, thalami, brainstem, dorsal pons, and dentate nuclei. The ADC values at these regions ranged from 0.42 to 0.56 x 10(-3) mm2/s compared with the normal ADC values from the uninvolved deep frontal white matter (0.68-0.92 x 10(-3) mm2/s). The known histopathologic features in Canavan disease include edematous and gelatinous brain tissue associated with diffuse vacuolization. Considering these and the diffusion MRI findings in this patient, it is likely that existence of a gel (gelatinous) state rather than the usual sol state of water molecules in the affected brain regions accounted for the restricted diffusion pattern in Canavan disease.