Queston #6748Note

Neuronal lipofuscinosis (aka Batten disease) = group of disorders caused by any one of a number of mutation to the CNL gene and are considered a type of lysosomal storage disorder 

– hallmark of disease is a combination of seizure, retinopathy with progressive vision loss, and progressive dementia in infants, children, or adolescents 

– classic histopathology = autofluorescent curvilinear bodies in tissue 

Disease is fatal, usually by late teens or early 20s