SPR Unknown #68 -- FINAL

Chris Cassady, M.D.

Texas Children's Hospital

Abstract


Publication Date: 2012-03-23

History

A female fetus at 34 2/7 weeks referred to MRI for ventriculomegaly.

Findings

Axial images show markedly limited sulcation for 34 weeks. Z-shaped kinking of the brainstem and cerebellar hypoplasia on the sagittal view.

Diagnosis

Walker-Warburg lissencephaly

Discussion

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.

Files

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