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Neuropediatrics 1991; 22(2): 92-96
DOI: 10.1055/s-2008-1071423
Original article

© Georg Thieme Verlag KG Stuttgart · New York

The Spectrum of Jansky-Bielschowsky Disease

P.  Santavuori1 , J.  Rapola2 , A.  Nuutila3 , R.  Raininko4 , M.  Lappi5 , J.  Launes6 , R.  Herva7 , K.  Sainio8
  • 1Department of Child Neurology, University of Helsinki, SF-00290 Helsinki, Finland
  • 2Department of Pathology, University of Helsinki, SF-00290 Helsinki, Finland
  • 3Pediatric Unit, Central Hospital of Seinäjoki, SF-60220 Seinäjoki, Finland
  • 4Department of Diagnostic Radiology, University of Helsinki, SF-00290 Helsinki, Finland
  • 5Children's Hospital, University of Helsinki, SF-00290 Helsinki, Finland
  • 6Department of Neurology, University of Helsinki, SF-00290 Helsinki, Finland
  • 7Department of Pathology, University of Oulu, SF-90220 Oulu, Finland
  • 8Children's Hospital, University of Helsinki, SF-00290 Helsinki, Finland
Further Information

Publication History

Publication Date:
19 March 2008 (online)

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Abstract

A series of five patients with a variant type of Jansky-Bielschowsky disease is presented. The disease initiated between four and a half and seven years with mental and slight motor symptoms. The additional neurological symptoms and signs, i. e. visual failure, retinal degeneration, ataxia, myclonia and epilepsy developed in all children before the age of ten years.

The present series differs from our previous series of 16 cases especially in regard of neurophysiological findings (photic spikes, high visual evoked potential, VEP and high somatosensory evoked potential, SEP). VEP became abnormally high between 8.0 and 9.5 years instead of being an early finding as in the previous series. Photic spikes appeared also later in the present series.

Electromicroscopic investigation revealed cytosomes with fingerprint profiles (FP) in the autonomic ganglion cells and cytosomes with both FP and curvilinear (CP) profiles in many extraneural cells including smooth muscle, Schwann cells, capillary endothelium and macrophages.

In the light of our 21 Finnish patients and the literature, the spectrum of Jansky-Bielschowsky disease seems to be much wider than previously assumed. The diagnosis should be based on clinical, ophthalmological, neurophysiological and ultrastructural findings. Repeated neurophysiological studies may be necessary.

Key words

Neuronal ceroid-lipofuscinosis - NCL - Late infantile NCL -Jansky-Bielschowsky disease - Batten's disease

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