Definitions

Alpers' disease

Alpers' disease

Alpers' disease, also called Alpers' syndrome, Alpers' Huttenlocher disease, progressive neuronal degeneration of childhood, progressive sclerosing poliodystrophy, and progressive infantile poliodystrophy, is a progressive degenerative disease of the central nervous system that occurs mostly in infants and children. It is an autosomal recessive disorder that is sometimes seen in siblings. It is also thought that Alpers' syndrome is a transmissible spongiform encephalopathy disease caused by a prion.

Presentation

First signs of the disease, which include intractable seizures and failure to meet meaningful developmental milestones, usually occur in infancy, after the first year of life, but sometimes as late as the fifth year. Primary symptoms of the disease are developmental delay, progressive mental retardation, hypotonia (low muscle tone), spasticity (stiffness of the limbs) possibly leading to quadriplegia, and progressive dementia. Seizures may include epilepsia partialis continua, a type of seizure that consists of repeated myoclonic (muscle) jerks. Optic atrophy may also occur, often leading to blindness. Deafness may also occur. And, although physical signs of chronic liver dysfunction may not be present, many patients suffer liver impairment leading to liver failure. While some researchers believe that Alpers' disease is caused by an underlying metabolic defect, no consistent defect has been identified. Pathologically, there is status spongiosus of the cerebral grey matter.

Treatment

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

Prognosis

The prognosis for individuals with Alpers' disease is poor. Those with the disease usually die within their first decade of life. Liver failure is usually the cause of death, although cardiorespiratory failure may also occur.

Eponym

It is named for Bernard Jacob Alpers.

Notes

References

"Alpers' Disease Information Page". (Website). National Institute of Neurological Disorders and Stroke, U.S. National Institutes of Health.

"Non-Profit Organization". (Website). Dedicated to research and education for mitochondrial diseases

"The Nicholas Appeal" (Website). Non-charitable trust

Further reading

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