They include seizures, blindness, spasticity. One of the key points of diagnosis is a cherry-red spot in the middle of the retina. The red is actually the normal color, but all the other retinal cells are blanched white by the lipid accumulation. Optic atrophy is another key symptom. There is no treatment and no cure.
Death occurs often in the first decade.
The pathology shows particular accumulation of lipid in the hippocampus, demyelination, brain atrophy. Genetic counseling, especially in the Jewish population, is a key recommendation to prevent ocurrence of the disease. There is an easy, specific test for the presence of the mutation in the fetus, which can be done by chorionic villus sampling at about 11 weeks of pregnancy. Previous Article Return to original Article Click HERE to return to the main Neurology WebForum Homepage.