Initial presentation usually is neurologic as
evidenced by problems with development of walking, oculomotor abnormalities,
and progressive neurologic disability. Risk of recurrent aspiration of oral
secretions. In addition to telangiectasia, vitiligo, café-au-lait spots,
and premature graying may be present. Absence of secondary sexual
characteristics in females. Elevated liver enzymes associated with fatty
infiltration of the liver. Ataxia telangiectasia patients are at increased
risk for developing malignancies, particularly lymphoma and leukemia in
children and gastric carcinoma in adults. Chronic respiratory infections and
bronchiectasis, unresponsive to antibiotics, are frequently the ultimate
cause of death. Unusual to survive beyond the third decade.