Hypogammaglobulinaemia in a patient with ring chromosome 21

Shouichi Ohga, Futoshi Nakao, Osamu Narazaki, Naoki Fusazaki, Tomonobu Aoki, Kenji Kamesaki, Toshiro Hara

Research output: Contribution to journalArticlepeer-review

9 Citations (Scopus)

Abstract

An 8 year old boy with ring chromosome 21 who was susceptible to sinorespiratory infections due to hypogammaglobulinaemia is reported. He presented with the characteristic features of monosomy 21 syndrome, such as psychomotor retardation, hypertonia, large saccular ears, prominent nasal bridge, micrognathia, thrombocytopenia, and patent ductus arteriosus. His serum IgG concentration was less than 1.5 g/l at 3 years and 6 months of age after repeated hospitalisations with pneumonia, otitis media, and convulsions. Regular replacement of intravenous gammaglobulin effectively reduced such infectious episodes. A predisposition to infection in patients with ring chromosome 21 may be explained by hypogammaglobulinaemia and merit treatment with gammaglobulin.

Original languageEnglish
Pages (from-to)252-254
Number of pages3
JournalArchives of Disease in Childhood
Volume77
Issue number3
DOIs
Publication statusPublished - 1997

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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