A congenital syndrome of mental deficiency, gait disturbance, sensorineural deafness and pigmentary retinopathy associated with premature atherosclerosis.

Many neurological disorders have been described in combination with sensorineural hearing loss and pigmentary retinopathy. We present the clinicopathological case of such a combination, associated with premature atherosclerosis of large cerebral arteries. In the literature dealing with the combination of deafness and pigmentary retinopathy, none of the many described syndromes was associated with premature atherosclerosis. The mitochondrial myopathy, encephalopathy, lactic acidosis, early atherosclerosis and stroke-like episodes (MELAS) syndrome can include deafness and blindness. In this syndrome small cerebral arteries are affected. In our case we did not find electron microscopic evidence of mitochondrial myopathy. Also the syndrome with encephalopathy, deafness, blindness and ataxia in young women is attributed to microangiopathy with small brain infarcts and retinal infarcts. In contrast, in our case, large cerebral arteries are affected. In the reverse order, none of the conditions with early atherosclerosis has been reported in combination with sensorineural deafness and pigmentary retinopathy. There is some similarity of our case to cases of Usher syndrome, type II. In the Usher syndrome, plasma lipid disturbances have been described and neuroradiological evidence of decreased circulation in the posterior cerebral circulation has been published. We suggest that in cases of congenital or acquired oto-ophthalmo-neurological disease the cerebral circulation and the lipid metabolism should be analyzed.