Batten Disease

Batten disease, or neuronal ceroid lipofuscinosis, is a group of autosomal recessive lysosomal storage disorders caused by mutations in genes responsible for lysosomal enzyme function. Pathologically, it is characterized by accumulation of lipofuscins in neurons, leading to progressive neurodegeneration. Clinical manifestations include seizures, vision loss, cognitive decline, and motor dysfunction, with onset typically in childhood. Diagnosis involves genetic testing, enzyme assays, and neuroimaging demonstrating cerebral and cerebellar atrophy. Management is largely supportive, addressing seizures, mobility, and vision impairment; prognosis is poor, with early-onset forms often resulting in death during adolescence.