Alpers Disease

Alpers disease also known as Christensen's disease, Christensen-Krabbe disease, Progressive Sclerosing Poliodystrophy, Alpers Progressive Infantile Poliodystrophy, Alpers Syndrome, Alpers-Huttenlocher Syndrome or Neuronal Degeneration Of Childhood With Liver Disease, Progressive (PNDC) is a rare, genetically determined disease of the brain that causes progressive degeneration of grey matter in the cerebrum. It is inherited in an autosomal recessive pattern, meaning that affected children's parents are both carriers of the abnormal gene. Because it is so infrequently diagnosed, its incidence and prevalence are difficult to estimate.

Signs and Symptoms
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, and liver conditions such as jaundice and cirrhosis that can lead to liver failure. Optic atrophy may also occur, often causing blindness.

Causes
Researchers believe that Alpers disease is caused by an underlying metabolic defect that results in high rates of programmed cell death (apoptosis). Some patients have mutations in mitochondrial DNA.

Exams and Tests
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 diagnosis can be strongly suspected based on histological, radiographic, and laboratory abnormalities. Liver biopsy specimens may show bile duct proliferation and scarring. Genetic studies (DNA sequencing) may show mutations in the gene encoding DNA polymerase. Brain abnormalities may also be evident on MRI scans or electroencephalograms.

Medications
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 not be used since it can increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.

Survival Rate
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.

History
The disease was first described by Alfons Maria Jakob ; more extensive details were published by Bernard Jacob Alpers, Erna Christensen, and Knud Haraldsen Krabbe.