Spielmeyer-Vogt-Batten Syndrome

📋Overview

Spielmeyer-Vogt-Batten Syndrome, often clinically identified as CLN3 disease or juvenile neuronal ceroid lipofuscinosis, is an inherited neurodegenerative disorder. It is characterized by the abnormal accumulation of lipopigments, which are fatty substances that build up in the brain and other body tissues due to genetic mutations.

This condition primarily affects the central nervous system and leads to a progressive decline in neurological health. It is typically inherited in an autosomal recessive manner, meaning a child may develop the disorder if they receive a copy of the mutated gene from both parents.