Ataxia Telangiectasia Louis Bar Syndrome Clinical Features

Ataxia telangiectasia (AT) is a complex syndrome with nervous system, ocular, cutaneous, and visceral manifestations. It is an autosomal recessive disorder associated with mutations in the ataxia telangiectasia mutated (ATM) gene on chromosome 11. Its prevalence is estimated at 1 per 80,000 live births.

The disease begins during infancy or early childhood with slowly progressive cerebellar ataxia. Nystagmus and gaze apraxia are characteristic ocular signs. Patients who survive beyond adolescence develop dysar-thric speech, choreoathetosis, weakness, muscle wasting, and an impaired vibratory sense. Characteristic somatic features include conjunctival and cutaneous telangiectasia, retarded growth or dwarfism, progenic changes of the hair and skin (premature aging), and delayed development of sex characteristics. Defective immune mechanism, sinopulmonary infection, and a tendency to malignancy, mostly lymphomas or leukemias, complete the syndrome. Serum levels of a-fetoprotein and carcinoembryonic antigen are increased, and levels of immunoglobulin A (IgA) and E (IgE) are decreased.

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