Ataxia-Telangiectasia

• also called Louis Bar syndrome
• heredofamilial neurocutaneous progressive syndrome of uncertain origin
• characterized by cerebellar ataxia, oculocutaneous telangiectasias, and impairment of the immune system (both B & T cells affected)
• While cerebellar ataxia (abnormal or no movement) starts first, usually in childhood, telangiectasias may appear later.
• Recurrent infections of sinuses and lungs are a manifestation of the immunodeficiency.
• Marked, progressive cerebellar atrophy may be demonstrated by CT and MR, with enlarged cerebellar sulci and cisterns of the posterior fossa and fourth ventricle.