Walker-Warburg Syndrome in an adult?

Background: Wallter-Warburg-Syndrome (WWS) comprises malformations of the b rain and the eyes with muscle dystrophy, Its course is usually lethal withi n the first 60 weeks of life. As far as we know there are no reports in the literature dealing with WWS in adults. Case report: A 70-year old female died because of cardio-pulmonary failure while she had an infection of the respiratory tract. The patient had been m entally deficient and had suffered from recurrent single convulsions. 17 ye ars before death funduscopy had revealed an optic atrophy. Diabetes mellitu s was known for ca. 15 years. The neuropathologists found a lissencephaly with a typical histology and a cerebellar malformation. Histologically, the eyes showed diabetic changes l ike vacuolization of the iris pigment epithelium and a thickening of baseme nt membranes. There were marked deposits in the Pars plicata of the ciliary body and drusen formation in Bruch's membrane. The nerve fiber layer of th e retina seemed to be thinned, and there was a considerable rarefication of optic ganglion cells. Conclusions: Taking the clinical and especially the morphological data into account, a Walker-Warburg-Syndrome was assumed. Within the eyes developmen tal and diabetic changes were combined. Because the cerebral and ocular mal formations were comparably mild, the patient became unusually old, and visu al function allowed at least good orientation. References were searched by medline and by the indices of known papers.