Hypogammaglobulinaemia in a patient with ring chromosome 21
a Department of Paediatrics, Faculty of Medicine, Kyushu
University, b Fukuoka Children's Hospital and Medical Centre for Infectious
Diseases, c Kamesaki Paediatric Clinic, Fukuoka, Japan
Correspondence to: Dr Shouichi Ohga, Department of Paediatrics, Faculty of Medicine, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812, Japan.
Accepted 6 May 1997
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.
© 1997 by Archives of Disease in Childhood
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Immunology (including allergy)
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Congenital heart disease
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Ear, nose and throat/otolaryngology
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Otitis
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Pneumonia (infectious disease)
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