[Walker-Warburg syndrome in adulthood?].
BACKGROUND
Walker-Warburg-Syndrome (WWS) comprises malformations of the brain and the eyes with muscle dystrophy. Its course is usually lethal within the first 60 weeks of life. As far as we know there are no reports in the literature dealing with WWS in adults.


METHODS
A 70-year old female died because of cardio-pulmonary failure while she had an infection of the respiratory tract. The patient had been mentally deficient and had suffered from recurrent single convulsions. 17 years before death funduscopy had revealed an optic atrophy. Diabetes mellitus 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 like vacuolization of the iris pigment epithelium and a thickening of basement 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 the 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 developmental and diabetic changes were combined. Because the cerebral and ocular malformations were comparably mild, the patient became unusually old, and visual function allowed at least good orientation. References were searched by medline and by the indices of known papers.
Rohrbach
J M
JM
Universitäts-Augenklinik, Abt. I, Tübingen.
Schlote
T
T
Strik
H
H
Bornemann
A
A
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D000368:Aged; D001284:Atrophy; D002531:Cerebellum / Q000002:abnormalities* / Q000473:pathology; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002924:Ciliary Body / Q000473:pathology; D003930:Diabetic Retinopathy / Q000235:genetics / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics / Q000473:pathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D009896:Optic Atrophy / Q000235:genetics / Q000473:pathology; D012165:Retinal Ganglion Cells / Q000473:pathology; D013577:Syndrome