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Alper's disease

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Alper's disease is a progressive degenerative disease of the central nervous system seen in children. The other system affected is the liver.

Features develop after the first year of life; sometimes as late as the fifth year, and include:

  • seizures, which may be myoclonic or Salaam type
  • progressive dementia
  • spastic quadraplegia
  • deafness

Pathologically there is status spongiosus of the cerebral grey matter.

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