Abstract
A case of ataxia-telangiectasia (Louis-Bar's Syndrome) is reported in a 8-year-old girl with ocular telangiectasia, ataxia and dystonia. She had few infections. There were clear radiological signs of cerebellar atrophy. The serum electrophoretic pattern showed a clear hypogammaglobulinaemia in her parents and one sister. The serum electrophoretic pattern of the patient showed absence of immunoglobulin G and an increase of the IgA and IgM precipitation bands. The clinical and immunological aspects of the A-T syndrome are discussed; in such cases previously reported the absence of IgG in serum is very rare; this finding suggests a possible relationship between the condition and the Swiss type of agammaglobulinaemia.
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