Download PDF
Neuropediatrics 1982; 13(3): 135-141
DOI: 10.1055/s-2008-1059612
© Georg Thieme Verlag KG Stuttgart · New York

A Variant of Jansky-Bielschowsky Disease

P.  Santavuori , J.  Rapola , K.  Sainio , Ch.  Raitta
  • Children's Hospital and Eye Clinic, University of Helsinki, Finland
Further Information

Publication History

Publication Date:
05 May 2008 (online)

Also available at
  PDF Download  Permissions and Reprints

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