Neuronal ceroid-lipofuscinosis with prominent chorea and without visual manifestations.

The cases of AFI with no detectable sphingolipid abnormality have been placed by Zeman and Dyken 3 1 , and Zeman et al. 3 0 under the generic heading of neuronal ceroid-lipofuscinosis (NCF). The common denominator in these patitnts is the accumulation of lipofuscinlike autofluorescent substances in neurons, glial and mesodermal cells of the central nrevous system and, to a variable extent, also in peripheral nerves, muscle, skin and viscera. Although the clinical picture is multiform in the NCL, three variants can now be recognized4: