Saanichton, BC

Dr. Miguel A. Lipka

Alpers' Disease

Alpers' disease, also known as progressive sclerosing poliodystrophy, is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum.

Alpers' disease occurs mostly in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings.

Researchers believe that Alper's disease is caused by an underlying metabolic defect. A number of individuals with Alper's disease have mutations in the "polymerase-gama" gene, which results in the depletion of mitochondrial DNA. Researchers suspect that Alpers' disease is sometimes misdiagnosed as childhood jaundice or liver failure, since the only method of making a definitive diagnosis is by autopsy or brain biopsy after death.

The first sign of the disease usually begins early in life with convulsions. Other symptoms are:

  • Developmental delay
  • Progressive mental retardation
  • Hypotonia - low muscle tone
  • Spasticity - stiffness of the limbs
  • Dementia
  • Liver conditions such as jaundice and cirrhosis that can lead to liver failure
  • Optic atrophy may also occur, often causing blindness

The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Continuous, unrelenting seizures often lead to death. Liver failure and cardiorespiratory failure may also occur.

There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures. Valproate should be used with caution since it can increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.