Contributor: Gordon K. Klintworth
Infantile neuronal ceroid lipofuscinosis (Haltia-Santavuori disease, Santavouri-Haltia disease, Santavouri disease, neuronal ceroid lipofuscinosis type II, OMIM #256730) is a subtype of neuronal ceroid lipofuscinosis.  This fatal inherited neurodegenerative disorder is caused by defects in the CLN1 gene which encodes the lysosomal enzyme palmitityl protein thioesterase. It become manifest during infancy with epilepsy, loss of vision, ataxia, loss of motor coordination and mental deterioration. Affected persons accumulate ceroid-lipofuscin within lysosomes of  neurons and other cell types.