Louis Bar Syndrome
| Classification according to ICD-10 | |
|---|---|
| G11.3 | Cerebellar ataxia with a defective DNA repair system |
| ICD-10 online (WHO version 2019) | |
The Louis-Bar-Syndrome (also Ataxia teleangiectatica ( Ataxia teleangiectasia ) or Boder-Sedgwick-Syndrome ) is an inherited systemic disease and belongs to the phakomatoses and chromosome break syndromes . In neurological systematics, it is counted among the hereditary ataxies (inherited disorders of movement coordination). The disease was named after the Belgian doctor Denise Louis-Bar .
Epidemiology
The mode of inheritance is autosomal - recessive and relates to the so-called AT - gene on chromosome 11 locus q22.3. The mutated gene is called ATM . 0.5 to 1% of the population are healthy (heterozygous) carriers of the mutation. Around one in 40,000 newborns has two defective copies of the gene (homozygous or compound heterozygous) and will develop ataxia telangiectatica.
Pathophysiology
The ATM gene codes for the serine protein kinase ATM , which plays a role as a sensor of DNA damage caused by UV radiation and as a regulator of DNA repair processes or programmed cell death ( apoptosis ). The fact that many cell lines are affected by the mutation explains the diversity of the symptoms of Louis Bar syndrome.
Symptoms
The first symptoms appear around the age of two to three. Characteristic are cerebellar ataxia (including gait and stance instability) with cerebellar atrophy (substance depletion), especially in the vermis area , athetosis (dystonic movement disorder), eye movement disorders and a physical and later psychological development deficit . In addition, telangiectasia (enlargement of the small arteries ) occurs primarily on the face and conjunctiva of the eye and the affected children have a reduced immune competence due to a T-cell defect , so that they are prone to infections and far more often than the normal population leukemia and Hodgkin lymphomas develop. The cancer rate is said to be 100 times higher than in the normal population. Sick people are therefore more sensitive to ionizing radiation and should be X-rayed as little as possible. Other common symptoms are hypersalivation (salivation) and hypogonadism (malfunction of the gonads).
Diagnosis and treatment
The diagnosis is often made clinically. Cerebellar atrophy and decreased immunoglobulin levels as well as lymphopenia can be confirmed by imaging . The Alpha-1-fetoprotein values are often increased.
A causal treatment is currently not possible. Above all, pulmonary infections are treated with antibiotics . Consistent vaccination of children is important, with live vaccines being absolutely contraindicated .
forecast
The life expectancy is due to recurrent pneumonia significantly reduced and increased cancer rates. In the literature, the median life expectancy is estimated at around 20 years. There are known cases in which people with this syndrome are well past the age of twenty, depending on the severity and course of the disease.
Individual evidence
- ↑ ensamble.org: Transcript: ATM-201 (accessed March 7, 2020)
swell
- Wallesch (Ed.): Neurology. Diagnostics and therapy in clinic and practice. Elsevier Urban & Fischer, 2005. ISBN 3-437-23390-4 .
