A Variant of Jansky-Bielschowsky Disease

Abstract

A series of 18 patients with Jansky-Bielschowsky disease is presented. Two children only showed the classical features of the disorder, whereas the remaining 16 differed from the cases previously published in the following respects. Clinically: later onset of age, early onset of visual failure and an intermediate course of the disease. Neurophysiologically: spikes in response to intermittent stimulation appeared by the age of 7-8 years and disappeared after 11 years. The visual evoked response was extinct at an advanced stage of the disorder. Morphologically: accumulation of cytosomes with curvi-linear and fingerprint profiles in solid tissues, but lymphocytes showed no storage material. Electron microscopy of the lymphocytes revealed nothing abnormal.