Telangiectasia ataxia syndrome

Capillary dilatation ataxia syndrome is also known as capillary dilatation ataxia, telangiectasia, Lovis-Bar syndrome. It is a rare, complex, and poorly prognostic neurocutaneous syndrome. This disease is an autosomal recessive genetic disease, but sporadic cases account for the vast majority. Its clinical features include cerebellar ataxia that develops during infancy and early childhood, telangiectasis telangiectasias, recurrent paranasal sinus and lung infections, prone to malignant tumors and mixed immunodeficiency.

The material in this site is intended to be of general informational use and is not intended to constitute medical advice, probable diagnosis, or recommended treatments.