Schindler disease is a rare, autosomal recessive lysosomal storage disorder characterized by varying degrees of neurologic impairment. In the infantile form of Schindler disease (Type I), developmental regression becomes evident around the age of one in a previously healthy child. In addition to this rapid progression of intellectual disability, affected children develop optic atrophy leading to vision loss, spasticity, and seizures. Muscle atrophy and contractures may occur, and patients generally become unresponsive to their surroundings. Most affected individuals die in early childhood. Type II Schindler, also known as Kanzaki disease, is an adult-onset disorder associated with muscle weakness, hearing loss, mild intellectual changes, and angiokeratomas. An intermediate type may exist, and its features include developmental delays, seizures, cardiomyopathy, hepatomegaly, and behavioral changes.