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Multisystem entities

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chronic granulomatous disease of childhood

abnormal NADPH oxidase that makes oxygen radicals, resulting in immunodeficiency
  • two forms: X-linked recessive, autosomal recessive
  • fatal in childhood without treatment

  • chronic infection by "nonpathogenic" organisms (catalase positive)
  • pneumonia, osteomyelitis, diarrhea, abdominal and CNS abcess

Findings:
  • recurrent pneumonia (resolves incompletely, with abscess formation)
  • adenopathy (big hila)
  • hepatosplenomegaly
  • calcified granulomata in liver, spleen, lymph nodes
  • gastric antral narrowing

Cf: Chediak-Higashi syndrome

More info: chronic granulomatous disease [OMIM]

Charles E. Kahn, Jr., MD  -  24 November 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
Chediak-Higashi syndrome
hepatomegaly
bronchiectasis
recurrent pneumonia in childhood
Wilson disease
cystic fibrosis

 

Copyright © 2013, Charles E. Kahn, Jr.