^

Health

A
A
A

Ataxia telangiectatic (Louis-Bar syndrome)

 
, medical expert
Last reviewed: 23.04.2024
 
Fact-checked
х

All iLive content is medically reviewed or fact checked to ensure as much factual accuracy as possible.

We have strict sourcing guidelines and only link to reputable media sites, academic research institutions and, whenever possible, medically peer reviewed studies. Note that the numbers in parentheses ([1], [2], etc.) are clickable links to these studies.

If you feel that any of our content is inaccurate, out-of-date, or otherwise questionable, please select it and press Ctrl + Enter.

Ataxia telangiectatic (syn: Louis-Bar syndrome) is a rare systemic disease characterized by cerebellar ataxia, which is the earliest symptom, telangiectasias that appear later, usually at 4 years of age, chromosomal instability, immunodeficiency, leading to frequent infections, mainly upper respiratory pathways and a tendency to develop tumors, mostly lymphoreticular.

trusted-source[1], [2], [3], [4], [5], [6], [7]

Causes and pathogenesis

Inherited by an autosomal recessive type, the gene locus is Ilq22-q23. There is a view that the disease is a hereditary impairment of the ability to respond to damage caused by ionizing radiation. It is also possible for a defect in DNA repair for some genetic variants. It is suggested that thymic hypoplasia and changes in the nervous system may be caused by vascular anomalies caused by the mesodermal defect or autoimmune reactions to an antigen common to thymocytes and nerve cells. The connection of T-cell tumors in patients with telangiectatic ataxia with a chromosome rupture, predominantly 14qll, is indicated.

In the epidermis, histologically unsharply expressed hyper- and parakeratosis and a significant deposition of melanin. In the upper third of the dermis - diffuse vasodilation.

trusted-source[8], [9], [10], [11], [12]

You are reporting a typo in the following text:
Simply click the "Send typo report" button to complete the report. You can also include a comment.