Morphologic studies on adult neuronal-ceroid lipofuscinosis (NCL)

This report concerns morphologic findings in two middle-aged women, who died of sporadic adult neuronal ceroid-lipofuscinosis (NCL) and whose brains were studied histologically, by electron microscopy and by pigmentoarchitectonic techniques. In addition, the brain of a 35-year-old woman, who died of familial protracted juvenile NCL, was also investigated using pigmentoarchitectonic methods. Clinical, light and electron microscopic findings were compatible with the above-mentioned diagnosis. Pigmentoarchitectural analysis of homotypical isocortex in these three brains revealed (1) loss of pigment-laden stellate cells in layer II, (2) axonal enlargements of layer IIIab-pyramidal cells, and (3) considerable cell loss in layer Va. The changes were more pronounced in the brain affected by protracted juvenile NCL than in the two brains affected by adult NCL. The study emphasizes the value of the pigmentoarchitectonic technique, both in diagnostic neuropathology and in ascertaining patients afflicted with adult NCL. The ultrastructure of the lipopigments showed a motley spectrum of membrane formation such as curvilinear, fingerprint, or straight membranes and was less granular than regular senile lipofuscin.