Ataxia Telangiectasia: A Disease Exclusively of Childhood?

Abstract

Ataxia telangiectasia (AT) is a multisystem disorder with progressive cerebellar ataxia and oculocutaneous telangiectasia as essential features. Other clinical symptoms are expressed in the nervous and endocrine systems, and the immunological apparatus. The disease is inherited as an autosomal recessive trait. The incidence is 1 : 100,000. The symptoms, such as cerebellar ataxia, telangiectasia, disturbances of eye movements and recurrent sinopulmonary infections manifest as a rule at the age of 3 to 8 years. Characteristically ataxia progresses to a point where the child is confined to a wheelchair at the age of 10 years. Typically death occurs in adolescence, usually from bronchopulmonary infection or from malignancy. The incidence of cancer in AT is about 10%, mainly lymphoreticular malignancies (4,5). The oldest known survivors have been a sister and a brother being 38 and 42 years of age, who also presented a picture of progressive spinal muscular atrophy (2). We present a brother and a sister, 42 and 43 years of age, with the characteristic features of AT.