Infantile neuroaxonal dystrophy.

Abstract

One of the imperfectly understood neuropathological changes is formation of so-called 'spheroids' or 'spheroid bodies' ('Schollen'-in the German literature). These structures are usually roundish homogeneous or faintly granular bodies measuring up to a 100 V& in diameter. They are believed to be focal distensions of axis cylinders, dendrites, or parts of cell bodies, though their direct continuity with neuroplasm is often not demonstrable. They are more frequent in formations of grey matter than of white matter. The presence of occasional spheroids is not unusual in a variety of diverse conditions, such as encephalitis, diabetes, heart failure, carbon monoxide poisoning, and cerebral arteriosclerosis. However, in a few recorded cases spheroids were sufficiently numerous to dominate the morphological picture. Some of these patients were infants or children showing a somewhat uniform clinical picture and pattern of encephalopathy, so that they could have been cases of the same disease or syn- drome. This condition has been designated infantile neuroaxonal dystrophy by Cowen and Olmstead (1963) who have reviewed the previous reports and fully described 2 new cases.