Atypical neuronal ceroidlipofuscinosis

Abstract

The clinical, pathologic and ultrastructural findings in a case of juvenile onset neuronal ceroid-lipofuscinosis without visual symptoms or retinal abnormalities was described. The histochemical and ultrastructural characteristics of the neuronal lipopigment were similar to those in typical cases of neuronal ceroid-lipofuscinosis. Atypical neuronal ceroid-lipofuscinosis may be distinguished histochemically, ultrastructurally and clinically from another disorder called juvenile dystonic lipidosis, with which it has been confused.