HYPOGAMMAGLOBULINEMIA IN A PATIENT WITH RING CHROMOSOME-21

An 8 year old boy with ring chromosome 21 who was susceptible to sinor espiratory infections due to hypogammaglobulinaemia is reported. He pr esented with the characteristic features of monosomy 21 syndrome, such as psychomotor retardation, hypertonia, large saccular ears, prominen t nasal bridge, micrognathia, thrombocytopenia, and patent ductus arte riosus. His serum Ige concentration was less than 1.5 g/l at 3 years a nd 6 months of age after repeated hospitalisations with pneumonia, oti tis media, and convulsions. Regular replacement of intravenous gammagl obulin effectively reduced such infectious episodes. A predisposition to infection in patients with ring chromosome 21 may be explained by h ypogammaglobulinaemia and merit treatment with gammaglobulin.