Bielschowsky's amaurotic idiocy

This infantile form of amaurotic family idiocy is a rare type of gangliosidosis with ubiquitous storage of lipopigments in the lysomas. Onset of symptoms between the ages of 2 and 4 years. Most patients die by the age of 4 to 8 years. After a normal or slightly retarded development, the illness often starts with progressive loss of vision. Progressive spasticity, athetosis, loss of speech, minor convulsions. Later: blindness, frequent respiratory infections, incoordination, tremor, ataxia, spastic weakness, increased tendon reflexes, Babinski signs, mental deterioration, and dysarthria. Both sexes affected. The disturbance is transmitted as an autosomal dominant trait. The condition differs from the other forms of amaurotic idiocy by virtue of lack of fundal changes and the presence of significant cerebellar dysfunction.

First description probably by the Prague psychiatrist Jan Jansky (1877-1921), who in 1910 reported a family with a similar condition.

The infantile form is entered here as Tay-Sachs disease, under Waren Tay, English ophthalmologist and surgeon, 1843-1927; the juvenile form as Stengel's syndrome, under Christian Stengel, German physician in Norway, 1794-1890.

We thank Patrick Jucker-Kupper, Switzerland, for information submitted.

• M. Bielshowsky:
  Über spätinfantile familiäre amaurotische Idiotie mit Kleinhirnsymptomen.
  Deutsche Zeitschrift für Nervenheilkunde, 1914, 50: 7-29.
• Zur Histopathologie und Pathogenese der amaurotischen Idiotie mit besondrer Berücksichtigung der zerebellaren Veränderungen.
  Journal für Psychologie und Neurologie, Leipzig, 1921, 26: 123-199.
• H. Bernheimer, F. Seitelberger:
  Über das Verhalten der ganglioside im Gehirn bei 2 Fällen von spätinfantiler amaurotischer idiotie.
  Wiener klinische Wochenschrift, 1968, 80: 163-164.
• A. Dollinger:
  Zur Klinik der infantilen Form der familiären amaurotischen Idiotie (Tay-Sachs).
  Zeitschrift für Kinderheilkunde, Berlin, 1919, 22 (1): 167-194.
• D. G. Cogan:
  Amaurotic familial idiocy. A case for eponyms.
  New England Journal of Medicine, Boston, 1958, 258: 1212-1213.
• H. H. Goebel, et al:
  An ultrastructural study of the retina in the Jansky-Bielschowsky type of neuronal ceroidlipofuscinosis.
  American Journal of Ophthalmology, Chicago, 1977, 84 (series 3): 70-79.