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Krabbe's disease

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An inborn neurodegenerative disorder of infancy due to the accumulation of galactocerebroside in the tissues. This is a result of a primary deficiency of galactocerebrosidase, the white matter of the brain, causing demyelination in the presence of inclusion bodies in the Schwann cells. The acute infantile form (90 percent of cases) is characterized by onset of symptoms before the age of 6 months and death by the end of first year of life, survival beyond 2 years being very rare. Clinically the child fails to thrive and develops seizures, deafness, blindness, cachexia, paralysis, and marked mental deficiency. The disease is assumed to be of genetical nature, but both dominant and recessive types have been described. There is also a rare juvenile and an adult form.


  • K. H. Krabbe:
    A new familial infantile form of diffuse brain sclerosis.
    Brain, Oxford, 1916, 39: 74-115. Beiträge zur Kenntnisse der Frühstadien der diffusen Hirnsklerose (die perivasculare Marknekrose).
    Zeitschrift für die gesamte Neurologie und Psychiatrie, Berlin, 1913, XX: 108.

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