Ataxia telangiectasia in two brothers and one sister

Ataxia telangiectasia (at) is a rare autosomal recessive multisystem,neurodegenerative disorder. it is characterized by progressive neurological degeneration,cutaneous and conjunctival telangiectasis,immunologic impairment,and frequent infections. at is caused by a defect in the atm gene on chromosome 11q22-23,which is responsible for recognizing and correcting errors in duplicating dna when cells divide,and in destroying the cells when errors cannot be corrected. we report two brothers and one sister,aged 11,9 and 7 years respectively,who had progressive cerebellar ataxia,conjunctival telangiectasia,and sinopulmonary infections. clinical suspicion of this entity will lead to an early diagnosis,the treatment of complications,and to provide genetic counseling for the families. © 2014,pakistan pediatric journal. all rights reserved.