Neuronal storage disorder with chorea and curvilinear bodies

A clinically unique case of ceroid-Iipofuscinosis is described with a juvenile onset, severe chorea that dominates the clinical picture, absence of retinal changes, and uniform intraneuronal inclusions consisting of curvilinear bodies. Cerebral biopsy was performed and ultrastructural and histochemical studies were made. This case differs clinically from the classic late infantile type of nonglycolipid neuronal storage disorder and it differs clinically and ultrastructurally from the classic juvenile type with pigmentary degeneration of the retina. Several atypical variants without visual loss have been reported, but this case appears morphologically distinct from the few cases with a dystonic form recently described ultrastructurally. It supports the notion of nosologic heterogeneity among the nonglycolipid neuronal storage disorders.