Santavuori-Haltia disease, also known as the infantile neuronal ceroid lipofuscinosis (INCL), is a rare but one of the most lethal inherited neurodegenerative lysosome storage disorders of childhood. Patients are normal at birth but by 2 years of age they manifest complete retinal blindness and by age four they would be brain-dead. It is caused by inactivating mutations in the palmitoyl-protein thioesterase-1 (PPT1) gene.
