Chronic granulomatous disease is one form of the phagocyte function disorde
r. Unlike most patients with chronic granulomatous disease who develop sign
s and symptoms of chronic and recurrent pyogenic infections during the firs
t 2 years of life, patients with mild forms of the disease may not present
until the teenage years or even adulthood. Thus, the diagnosis in these mil
d-form patients is often delayed. This paper describes a patient with the m
ild form of chronic granulomatous disease. A 7-year-old boy was admitted to
our ward with intermittent high fever and a left neck mass present for abo
ut 1 week. He had a history of persistent infection in the bilateral lower
face lasting for about 1 year during his fourth year of life. Family histor
y was unremarkable except that the patient's elder sister had a history of
persistent oral mucosal wound infection for about 1 year during the fifth y
ear of life. On physical examination, there were scars over the patient's b
ilateral lower face. Bacterial culture of pus drained from the neck mass re
vealed Burkholderia cepacia, a rare species in patients without immunodefic
iency. A series of antibiotics, including oxacillin, clindamycin, and piper
acillin, was given, and two incision operations for drainage and debridemen
t were performed. The neck mass resolved completely about 1.5 months later.
This history indicated that the patient might have chronic granulomatous d
isease. A definite absence of superoxide activity in the patient's granuloc
ytes detected by chemiluminescence and nitroblue tetrazolium dye test confi
rmed this diagnosis.