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Chronic granulomatous disease: a case report
1Department of Pediatrics, Tri-service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Abstract:
Chronic granulomatous disease is one form of the phagocyte function disorder. Unlike most patients with chronic granulomatous disease who develop signs and symptoms of chronic and recurrent pyogenic infections during the first 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 mild-form patients is often delayed. This paper describes a patient with the mild 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 about 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 history 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 year of life. On physical examination, there were scars over the patient's bilateral lower face. Bacterial culture of pus drained from the neck mass revealed Burkholderia cepacia, a rare species in patients without immunodeficiency. A series of antibiotics, including oxacillin, clindamycin, and piperacillin, was given, and two incision operations for drainage and debridement were performed. The neck mass resolved completely about 1.5 months later. This history indicated that the patient might have chronic granulomatous disease. A definite absence of superoxide activity in the patient's granulocytes detected by chemiluminescence and nitroblue tetrazolium dye test confirmed this diagnosis.
Insights
Mild chronic granulomatous disease (CGD) can cause delayed diagnosis in children. This case highlights a 7-year-old boy with CGD presenting with a neck mass and recurrent infections, confirmed by superoxide activity tests.
Area of Science:
- Immunology
- Pediatrics
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency affecting phagocyte function.
- Mild forms of CGD may present with delayed diagnosis in late childhood or adulthood.
Observation:
- A 7-year-old boy presented with fever, a neck mass, and a history of persistent facial infections.
- The neck mass culture revealed Burkholderia cepacia, an unusual pathogen in immunocompetent individuals.
- The patient's sister had a history of recurrent oral infections.
Findings:
- The patient was diagnosed with mild chronic granulomatous disease.
- Diagnosis was confirmed by the absence of superoxide activity in granulocytes via chemiluminescence and nitroblue tetrazolium dye tests.
Implications:
- This case underscores the importance of considering CGD in children with recurrent infections and unusual pathogens.
- Early diagnosis and appropriate management are crucial for patients with mild CGD.
- Recognizing delayed presentations of CGD can prevent diagnostic delays and improve patient outcomes.