The differential diagnosis in children with similar features of severe psychomotor disability, seizures, optic atrophy, blindness, and marked long-tract signs, at the age of around three can be a lysosomal storage disorder like Schindler disease type I, which is caused by mutations in a-N-acetylgalactosaminidase (NAGA) [10,11,12]. Here, NAGA is linked to optic atrophy.