| Main clinical features
|
neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy
cerebellar ataxia, early cognitive deterioration, and retinal dystrophy
at EEG, generalized polyspike wave discharges, ERG showed severe attenuation of both rod and cone responses, and MRI showed cerebellar atrophy
electron microscopic examination of a skin biopsy demonstrated numerous fingerprint profiles in membrane-bound structures in eccrine secretory cells and in endothelium, consistent with CLN |