Rare Diseases Symptoms Automatic Extraction

Hypogammaglobulinaemia in a patient with ring chromosome 21.

[monosomy 21]

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.

Diseases presenting "hypertonia" symptom

  • canavan disease
  • homocystinuria without methylmalonic aciduria
  • monosomy 21
  • pyruvate dehydrogenase deficiency

This symptom has already been validated