Late infantile neuronal storage disease with curvilinear bodies.

The brain and other organs of a case of late infantile neuronal storage disease were studied by light and electron microscopy. At the ultrastructural level, aggregates of typical curvilinear bodies were found in neurons and cells of every organ examined. Striking features not well documented in previously reported cases included numerous, large curvilinear bodies in proximal renal tubules and granulomas in the spleen. These findings are discussed in light of other reports of neuronal storage disease.