Kjellin syndrome.

A previously healthy 30-year-old woman who had cognitive impairment since c hildhood suddenly developed progressive spastic paraparesis. Visual impairm ent and characteristic retinal macular spots supported the diagnosis of Kje llin syndrome. This disease, probably transmitted by autosomal recessive in heritance, is seldom observed in clinical practice. We describe the charact eristics of Kjellin syndrome and the differential diagnosis, including othe r macular changes associated with spastic paraparesis.