The recurrent respiratory infections are the cause of death during adolescence or young adulthood even with optimal antimicrobial and supportive treatment. Since nasal secretions are associated with antiviral activity and they are deficient in AT, there appears to be a causal relationship to the susceptibility for respiratory infection observed in this syndrome. An elevated alpha-fetoprotein level, present in almost all patients with AT, often is associated with pathologic conditions of the liver and chronic hepatitis. This syndrome is associated with glucose intolerance and insulin resistance probably due to defects in the affinity of the receptors for insulin. Hair and skin tend to be coarse and dry.
Some gray hair is visible.
Ataxia of stance and gait, greatly diminished tendon reflexes, dysmetria of the arm movements, decreased tone in the arms and legs, and flexor plantar reflexes are present. Vascular markings of the bulbar conjunctiva, external ears, nasal septum, butterfly of the face, and hard and soft palates are seen. Tympanic membranes usually are scarred and thickened. Postnasal drainage and drooling usually are present. Inspiratory and expiratory rales are present in the lungs.