Ataxia Telangiectasia A case report

Ataxia telangiectasia(AT) is a rare autosomal recessive complex multisystem disorder characterised by progressive cerebellar ataxia, variable immunodeficiency with susceptibility to sino pulmonary infections, impaired organ maturation, ocular and cutaneous telangectasia and predisposition to malignancy. We report a case of 14 year old boy presented with cardinal clinical features of AT together with muscle atrophy and sensory axonal demyelination on nerve conduction study.