Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease.
BACKGROUND
Chronic granulomatous disease (CGD) is associated with multiple and recurrent infections. In patients with CGD, invasive pulmonary infection with Aspergillus species remains the greatest cause of mortality and is typically insidious in onset. Acute fulminant presentations of fungal pneumonia are catastrophic.


METHODS
Case records, radiograph findings, and microbiologic examination findings of patients with CGD who had acute presentations of dyspnea and diffuse pulmonary infiltrates caused by invasive fungal infection were reviewed and excerpted onto a standard format.


RESULTS
From 1991 through 2004, 9 patients who either were known to have CGD or who received a subsequent diagnosis of CGD presented with fever and new onset dyspnea. Eight patients were hypoxic at presentation; bilateral pulmonary infiltrates were noted at presentation in 6 patients and developed within 2 days after initial symptoms in 2 patients. All patients received diagnoses of invasive filamentous fungi; 4 patients had specimens that also grew Streptomyces species on culture. All patients had been exposed to aerosolized mulch or organic material 1-10 days prior to the onset of symptoms. Cases did not occur in the winter. Five patients died. Two patients, 14 years of age and 23 years of age, who had no antecedent history of recognized immunodeficiency, were found to have p47(phox)-deficient CGD.


CONCLUSIONS
Acute fulminant invasive fungal pneumonia in the absence of exogenous immunosuppression is a medical emergency that is highly associated with CGD. Correct diagnosis has important implications for immediate therapy, genetic counseling, and subsequent prophylaxis.
Siddiqui
Sophia
S
Laboratory of Immune Regulation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Anderson
Victoria L
VL
Hilligoss
Diane M
DM
Abinun
Mario
M
Kuijpers
Taco W
TW
Masur
Henry
H
Witebsky
Frank G
FG
Shea
Yvonne R
YR
Gallin
John I
JI
Malech
Henry L
HL
Holland
Steven M
SM
D000293:Adolescent; D000328:Adult; D001230:Aspergillus / Q000302:isolation & purification; D002648:Child; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000201:enzymology / Q000209:etiology; D006801:Humans; D008172:Lung Diseases, Fungal / Q000150:complications / Q000175:diagnosis* / Q000382:microbiology; D008297:Male; D008875:Middle Aged; D019255:NADPH Oxidases / Q000172:deficiency; D011014:Pneumonia / Q000150:complications / Q000175:diagnosis* / Q000382:microbiology
D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1