Alpers-Huttenlocher Syndrome

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Classification according to ICD-10
G31.8 Other specified degenerative diseases of the nervous system
- Poliodystrophia cerebri progressiva (Alpers disease)
ICD-10 online (WHO version 2019)

The Alpers' disease (abbreviated AHS ) is a mostly in infancy occurring degenerative disease .

Other names this disease are Alpers syndrome , progressive neuronal degeneration of childhood with liver disease and Progressive sclerosing Poliodystrophie Alpers . It was named after the two US neurologists Bernard Jacob Alpers and Peter R. Huttenlocher .

The Alpers' disease is defined as a " Cerebro-liver disease with loss of mitochondrial DNA and the symptoms triad Psychomotor regression - seizures - liver disease ", simply put a kind of weakening of the nerves in the brain associated with impaired physical mobility and an severe weakening of the immune system .

After normal development in the first few weeks of life, the disease almost always begins in infancy. The first symptoms can be epileptic seizures , vomiting and poor drinking, gait disorders and weakening of the muscles ( myopathy ). For the later course of the disease are u. a. Epileptic seizures that are difficult to control, liver disease and early death are characteristic.

The cause of the disease is an autosomal recessive inherited defect of the mitochondria (mutations in the mitochondrial polymerase gamma gene), which leads to an energy metabolism disorder. This is why organs such as the liver, skeletal muscles and the brain that are active in metabolism are particularly affected. The probability that a child will develop this disease is between a hundred thousandth and a quarter of a millionth and is therefore considered rare.

Web links

Individual evidence

  1. ↑ JP Sieb, B. Cabinet: Neuromuscular Diseases . Kohlhammer-Verlag 2009, p. 132. ISBN 978-3-17-018381-0
  2. ↑ Alpers-Huttenlocher syndrome. In: Orphanet (Rare Disease Database).