Case report of ataxia telangiectasia

Ataxia telangiectasia is rare inherited disorder characterized by progressive, neurodegenerative, variable immunodeficiency, celebral ataxia, ocular and cutaneous telangiectasia. They are prone for sinopulmonary infection also at risk of cancer development. Hallmark of disease is ataxia and telangiectasia. Incidence is 1 in 1,00,000 live births. 10-year-old presented to us with chief complaint of not able to Maintain balance and walk steady since 5 years of age. on examination bulbar telangiectasia was present. Also, dysdiadokinesia, past pointing, intention tremor was present. Magnetic resonance imaging (MRI) of the brain was done. Alpha fetoprotein was more than 1000. Vitamin E with balance exercise as supportive treatment starred. Ataxia begin during infancy when child start to walk, 2nd most hallmark of disease. In bulbar telangiectasia, average life span is 25-year-old. It is a multisystem genetic disorder. Death occurs due to cancer and infection. Counseling plays an important role as there is no cure for disease.