BSK Chiu, VWS Lau, KF Huen

Abstract

Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. The presentation is usually in early childhood with ataxia and unrelentingly, they become chair-bound by the age of ten. Immunodeficiency and predisposition to cancer are other prominent features. In 1995, a large gene was identified on chromosome 11q22-q23, known as AT Mutant (ATM) gene and the lack of its gene product, the ATM protein, is responsible for the clinical features of AT. A Chinese family with three affected brothers is described in this case report and points of interest are discussed, also a review on this disease is presented at the end.