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]
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© 2002, C.E. Kahn, Jr.
2002-04-18