Ataxia - telangiectasia

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Antibodies

Louis-Bar syndrome

• 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

• 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

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.