Walker warburg syndrome

(Arthur Earl Walker, 20th century, American surgeon, and Mette Warburg, 20th century, Danish ophthalmologist), one of the malformations due to abnormal neuronal migration, classically present with type II lissencephaly (Cobblestone).

Affected patients may have severe congenital eye malformation such as uni- or bilateral microphthalmia, congenital hydrocephalus and posterior cephalocele. Hypotonia is usually present and causes the early death of these patients in the first year of life secondary to recurrent aspiration and respiratory illness.

On MR images (Fig.1) there are shallow sulci sometimes with complete agyria, hydrocephalus, callosal hypogenesis and hypomyelination. In some severe cases there can be vermian hypoplasia. Secondary to occipital cephalocele there can be distortion of the brain stem. The cortex is irregularly projected into the underlying white matter, and this is a quite distinctive feature of type II lissencephaly.

Some authors consider that there is some overlap between Walker Warburg syndrome and Fukuyama's congenital muscular dystrophy, consisting of the presence of muscular dystrophy in patients with Walker Warburg syndrome and the presence of cortical dysplasia, type II lissencephaly, hypomyelination and ocular malformations in patients with Fukuyama's congenital muscular dystrophy.

SG