Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile neuronal ceroid lipofuscinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of autofluorescent lipopigments. Clinical features include progressive cognitive decline, seizures, vision loss, and motor deterioration. Pathophysiology involves lysosomal enzyme deficiency leading to neuronal apoptosis. Diagnosis is based on genetic testing, enzyme assays, and neuroimaging. Management is supportive, focusing on seizure control, physiotherapy, and vision care; prognosis is poor due to progressive neurodegeneration.