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Ataxia - telangiectasia

Alternative Names: Louis-Bar syndrome Symptoms: Delayed walking Unsteady, jerky gait, ataxic gait (cerebellar ataxia) Dilated blood vessels in the whites of the eyes Dilated blood vessels in skin of nose, ears, and flexion side of the elbow and knee) Severe recurrent respiratory infections Decreasing mental development which slows or stops after age 10-12 Movement disorder late in the disease Repetitive abnormal or jerky eye movements (nystagmus) late in the disease Coffee-with-milk colored spots of the skin Seizures Signs and tests: Mask-like face Decreased-to-absent deep tendon reflexes Multiple skin changes, including pigmentary, eczematoid and atrophic Growth failure Absence of pubertal development Hypoplastic tonsils, lymph nodes, and spleen Possible tests include: Serum immunoglobulin levels (IgE, IgA) - especially decreased IgA and IgE levels Decreased B and T cell screen Elevated alpha fetoprotein (AFP) Carcinoembryonic antigen (CEA) Increased tendency of chromosomes to break on exposure to radiation Genetic testing for mutations in the ATM gene. X-rays showing underdeveloped, small thymus in childhood Abnormal glucose tolerance test

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