A variant of Jansky-Bielschowsky disease.
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.
D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000503:physiopathology; D009887:Ophthalmoscopy; D012160:Retina / Q000473:pathology; D014785:Vision, Ocular