Hong Kong Journal of Paediatrics

Volume 8 Number 3, July 2003

Ataxia Telangiectasia: Case Report of Three Affected Brothers and Review of the Literature

BSK Chiu, VWS Lau, KF Huen


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. (HK J Paediatr (new series) 2003;8:187-191)

Key words : Ataxia telangiectasia


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