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DOI: 10.1055/s-2008-1059612
A Variant of Jansky-Bielschowsky Disease
Publication History
Publication Date:
05 May 2008 (online)
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 photic 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 curvilinear and fingerprint profiles in solid tissues, but lymphocytes showed no storage material. Electron microscopy of the lymphocytes revealed nothing abnormal.
Key words
Neuronal ceroid-lipofuscinosis (NCL) - Late infantile type - Jansky-Bielschowsky disease