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Alpers' Disease
Thursday, 13 November 2003
Thursday, 13 November 2003
Progressive Infantile Poliodystrophy, Alpers-Huttenlochen Syndrome, Progressive Neuronal Degeneratio

What

Alpers’ disease is an extremely rare degenerative disease of the brain that affects infants and children. It is characterized by developmental delay, seizures, and liver disease. The disease is progressive (gets worse with time) and is fatal.

Who

Less than 20 cases of Alpers’ disease have been documented in the medical literature since 1931. Since it is so rare, many cases were identified in parents who were genetically-related to one another (i.e. cousins), and the disease was determined to be inherited in an autosomal recessive manner. Most cases were diagnosed in children under 5 years of age. Researchers believe that some babies who die during infancy from other seizure disorders may actually be misdiagnosed and may have Alpers’s disease. Alper’s disease is similar to a group of other disorders called mitochondrial disorders, and may be related to them.

Signs and Symptoms

Children appear normal at birth and develop normally for a few months, but then symptoms of the disease start to appear. There may be some children who develop the disease in later childhood, but this is not clear. The symptoms of the disease include: • Failure to achieve normal childhood developmental milestones (i.e. sitting, walking) • Seizures that are difficult to control with medications • Increased muscle tone causing difficulty with movements • Dementia (loss of the ability to think and reason) • Blindness and/or deafness • Occasionally, children may have liver failure, which appears as jaundice, fluid retention, and bleeding.

Possible Causes

Many scientists believe Alpers’ disease is a metabolic disorder. Metabolic disorders consist of defects in any part of the body’s very complex chemical pathways that convert the food we eat into energy the body uses to perform daily functions. Subsequently, poisonous by-products build-up that cause various symptoms. Recent research has shown that the defect in Alpers’ disease in some cases may be present in the mitochondria, microscopic components of all cells that are directly responsible for producing energy. Other scientists believe that there is likely more than one cause, and further research needs to be done before the true cause is known.

Diagnosis

The diagnosis of Alpers’ disease can only be made for certain through brain biopsy, a procedure in which a small sample of brain tissue is surgically removed. In most cases, the diagnosis is determined on post-mortem examination (biopsy after the patient has died). Biopsy results show widespread and scattered nerve cell loss in the brain, leaving behind many small cysts, or holes. A CT scan may show shrinking of the brain. Liver disease is usually silent and only found on laboratory blood tests. Other blood and urine tests done to evaluate for metabolic disorders are usually normal. Electroencephalogram (EEG) may also be helpful in diagnosis.

Treatment

Treatment for Alpers’ disease is directed toward relieving symptoms, although there is no medicine that changes the course of the disease or the ultimate outcome. Treatment consists of seizure control through multiple medications. However, care should be taken to avoid anti-seizure medicines that are known to have liver side effects, as these can cause the onset of liver failure in these children.

Prognosis

Alpers’ disease has a very poor prognosis. The disease is usually fatal within a few months of symptom onset. Many children get ill very quickly and die after being given a medicine that further damages the liver (on top of the damage that is already present but usually unknown), while others develop persistent seizures that cannot be controlled. Much research is underway to further define the cause of Alpers’ disease, which will help determine what physicians and families can do to help treat it.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Mitochondrial Research Society
A nonprofit international organization of scientists and physicians whose goal is to find a cure for mitochondrial diseases. Has a newsletter to which patients and families can subscribe.

United Mitochondrial Disease Foundation
with links to local and national resources, as well as information and support groups for patients and families.

Geometry.net
An on-line search engine with numerous links to various medical resource centers that discuss Alpers’ disease.

Google Search for Alpers' Disease

References and Sources

Goetz: Textbook of Clinical Neurology, 1st ed., Copyright © 1999 W. B. Saunders Company C. Scriver et al., The Metabolic and Molecular Bases of Inherited Disease, Eighth Edition.