Van Bogaert-Scherer-Epstein syndrome

Alternative eponyms

Related people

A familial disorder of metabolism.

Description

A familial disorder of metabolism, probably transmitted as an autosomal recessive trait. Onset in childhood with dementia; evolving in adolescence with progressive ataxia, spasticity, and cataracts; and finally in adulthood with xanthomas of the tendons, lungs, and brain in the presence of normal or nearly normal blood cholesterol and high cholestanol accumulation in the white matter of the brain.

In 1937 van Bogaert, together with his colleagues Hans Joachim Scherer and Emil Epstein, a biochemist of Vienna, investigated two affected cousins and documented a progressive neurodegenerative disorder which was characterised by accumulation of cholesterol in the white matter of the brain. Xanthoma of the tendons and lungs were also present but serum cholesterol levels were within normal limits. In 1969 van Bogaert published a 30-year follow-up of one of his original patients.

Bibliography

  • L. van Bogaert, H. J. Scherer, E. Epstein:
    Une forme cérébrale de la cholestérinose généralisée (type particulier de lipidose à cholestérine).
    Paris, Masson, 1937.
  • F. Thiébaut:
    Paraplégie spasmodique et xanthomes tendineux associés. Des rapports de ce syndrome avec le cholestérinose cérébro-spinale.
    Revue neurologique, Paris, 1942, 74: 313-315.

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