Walker-Warburg syndrome: diffusion MR imaging

A 5-month-old boy with Walker-Warburg syndrome is reported. On MR imaging a characteristic pontomesencephalic kink was evident. Collicular fusion, hydrocephalus, callosal dysgenesis, cobblestone lissencephaly, small cerebellar cysts, pontine and cerebellar hypoplasia, and bilateral subretinal hemorrhages were noted. ADC (apparent diffusion coefficient) maps of an echoplanar diffusion MR imaging sequence revealed an elevated diffusion pattern throughout the cerebral white matter, manifested with prominently high ADC values, ranging from 1.82 to 2.45 x 10(-3) mm2/s. This corresponded to prominent hypomyelination. On the other hand, ADC values of the lissencephalic cortex were normal, ranging from 0.95 to 0.97 x 10(-3)mm2/s. In addition, ADC values from the hypoplastic cerebellar hemispheres, and from the hypoplastic pons were normal.