ATAXIA TELANGIECTASIA

Course overview

ATAXIA TELANGIECTASIA (LOUIS-BAR SYNDROME) IS A RARE AUTOSOMAL RECESSIVE CONDITION CHARACTERIZED BY CUTANEOUS TELANGIECTASIAS, CEREBELLAR ATROPHY WITH PROGRESSIVE ATAXIA, AND A HIGHER INCIDENCE OF MALIGNANCY, IMMUNE DEFICIENCY, RADIOSENSITIVITY, RECURRENT SINOPULMONARY INFECTIONS, AND ELEVATED LEVELS OF ALPHA-FETOPROTEIN (AFP) IN SERUM. THIS ACTIVITY OUTLINES THE EVALUATION AND MANAGEMENT OF ATAXIA TELANGIECTASIA AND EXPLAINS THE ROLE OF THE INTERPROFESSIONAL TEAM IN IMPROVING CARE FOR PATIENTS WITH THIS CONDITION.