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 disorderÂ
– hallmark of disease is a combination of seizure, retinopathy with progressive vision loss, and progressive dementia in infants, children, or adolescentsÂ
– classic histopathology = autofluorescent curvilinear bodies in tissueÂ
Disease is fatal, usually by late teens or early 20s