Ataxia telangiectasia. A case report

Abstract

The case of an eight year old girl with Ataxia Telangiectasia (AT) is described. She presented at seven years of age with gait problems and was found to have the neurological, dermatological and immunological features characteristic of AT along with a history of frequent sino-pulmonary infections. This report highlights the refractory nature of the disease, the difficulties in medical management, and the problems posed by late diagnosis which can compromise patient care. This is a rare inherited form of ataxia which has not been previously reported in West Indian literature.