Ataxia-Telangiectasia: A Case Report and a Brief Review

Ataxia-telangiectasia (A-T) is a rare inherited syndrome that primarily presents as ataxia due to cerebellar involvement and dilated capillaries in the oculocutaneous region. But many more serious complications of the condition exist, due to which both the quality and length of life are severely affected. Some of these include opportunistic infections due to an abnormal immune system, various malignancies, and an increased sensitivity to ionizing radiation. Due to the involvement of multiple systems in the body, diagnosis of this condition could be tricky as it may manifest with uncommon signs like dystonic head movements seen in our case. We have presented the case of a 16-year-old male born out of a consanguineous marriage, with the major symptoms of walking difficulties, frequent falls, and jerky movements of the head. Similar or related complaints had been noted in the past in his siblings. Laboratory investigations revealed elevated levels of serum alpha-fetoprotein, while the confirmatory diagnosis was made by genetic testing of the ataxia-telangiectasia mutated (ATM) gene. The patient was treated with amantadine and clonazepam, along with speech therapy, but the prognosis remained poor due to the lack of curative treatment for A-T.