Postmortem diagnosis of chronic granulomatous disease: how worthwhile is it?
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.
Lakshman
R
R
Department of Paediatric Immunology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne NE4 6BE, UK.
Bruce
S
S
Spencer
D A
DA
Crawford
D
D
Galloway
A
A
Cooper
P N
PN
Barge
D
D
Roos
D
D
Flood
T J
TJ
Abinun
M
M
D019121:Burkholderia Infections / Q000150:complications; D016956:Burkholderia cepacia; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D017809:Fatal Outcome; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009894:Opportunistic Infections / Q000150:complications; D018410:Pneumonia, Bacterial / Q000150:complications