Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?

J Clin Pathol. 2005 Dec;58(12):1339-41. doi: 10.1136/jcp.2004.025098.


A previously healthy 11 year old boy died unexpectedly after a rapid course of progressive pneumonia. Postmortem microbiology and histopathology suggested an underlying diagnosis of chronic granulomatous disease. This was confirmed by neutrophil oxidative burst and gene mutation analysis of other family members, one of whom benefited from early bone marrow transplantation.

Publication types

  • Case Reports

MeSH terms

  • Burkholderia Infections / complications
  • Burkholderia cepacia
  • Child
  • Child, Preschool
  • Chronic Disease
  • Fatal Outcome
  • Granulomatous Disease, Chronic / complications
  • Granulomatous Disease, Chronic / diagnosis*
  • Granulomatous Disease, Chronic / genetics
  • Humans
  • Male
  • Opportunistic Infections / complications
  • Pneumonia, Bacterial / complications