ATAXIA TELANGIECTASIA: A CASE REPORT

Abstract

Ataxia Telangiectasia (AT) is a rare, neurodegenerative disease that affects many parts of the body and causes severe disability is characterized by progressive cerebellartaxia, oculocutaneous telangiectasia, and recurrent respiratory and sinus infections. AT is caused bya defect in the ATM gene, which is responsible for recognizing and correcting errors induplicating DNA when cells divide, and in destroying the cells when the errors can notbecorrected. An 11 years old girl who is the first issue of non consanguineous parents completely immunized according to EPI schedule was admitted to lahore general hospital, lahore, on 02.06.2014 with the complaints of generalized weakness and difficulty to walk from the8th year. The patient has one younger brother,8 years old who also has such complaints. Onexamination the patient was found mildly anemic with congestions in both eyeballs that isradiating from the both corners to limbus. The patient was conscious and cooperative. Cranialnerves were intact. There were hypotonia which was more marked in lower limbs with diminished jerks and flexor plantar reflexes. Gait was wide based and ataxic. She was diagnosed as a case of AT. This case is presented as academic interest.