SPR Unknown #68 -- FINAL
Publication Date: 2012-03-23
The axial image shows markedly limited sulcation for 34 weeks. Although increased pressure hydrocephalus can simulate this appearance, there is a suggestion of laminar banding in the parenchyma, which should not be present at this gestational age. Additionally, the sagittal image shows the characteristic Z-shaped kinking of the brainstem and the cerebellar hypoplasia that are characteristic of Walker-Warburg type lissencephaly. Affected patients also have retinal dysplasias and congenital muscular dystrophy. WW is an autosomal recessive disorder with a 25% recurrence rate for subsequent pregnancies and is therefore important to diagnose for genetic counseling. Intractable seizures and severe mental retardation are common features in affected children, most of whom die within the first year of life.