Author(s): Chani Gupta, Reshu Tewari, S.M. Natu, Pushpa Tondon, Raj Mehrotra
Ataxia telangiectasia is a rare autosomal recessive multisystem disorder,having an incidence of 1:40,000 to 1:100,000 with an equal ratio in males and females, characterized by cerebellar ataxia, variable immunodeficiency, oculocutaneous telangiectasia, increased x ray hypersensitivity and susceptibility to malignancies. The causative gene has been localized to chromosome 11q22-23. Here a case of an 8 year old boy is described who presented with progressively increasing gait difficulties, immunological and ocular manifestations, bilateral CSOM, and abdominal tuberculosis. The case an almost classical presentation of ataxia telangiectasia, highlights the diagnostic work up and the serological findings for early detection and genetic counseling of the parents.