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Liver abscess as the presenting manifestation of chronic granulomatous disease
Setareh Mamishi1, Faezeh Ahmadi, Maedeh Ahmadi
1Tehran University of Medical Sciences Infectious Disease Research Center Tehran Iran. smamishi@sina.tums.ac.ir
Insights
Chronic granulomatous disease (CGD) is a rare immunodeficiency. Early diagnosis of CGD in children with unusual abscesses is crucial for preventing severe infections and death.
Area of Science:
- Immunology
- Pediatrics
- Genetics
Background:
- Chronic granulomatous disease (CGD) is a rare inherited disorder affecting the immune system.
- It impairs the ability of phagocytes to fight certain infections, leading to recurrent bacterial and fungal infections.
Observation:
- An 11-year-old girl presented with a liver abscess at age 9.
- Her symptoms and diagnostic tests, including positive dihydrorhodamine (DHR) and nitrobluetetrazolium (NBT) tests, confirmed a diagnosis of CGD.
Findings:
- The patient received anti-tuberculosis drugs and parenteral antibiotic therapy.
- The diagnosis was confirmed through DHR and NBT testing, highlighting their importance in CGD diagnosis.
Implications:
- Unusual visceral abscesses and recurrent infections in children may indicate underlying primary immunodeficiency diseases like CGD.
- Prompt diagnosis and appropriate management of CGD are essential to prevent severe complications and improve patient outcomes.
Abstract:
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease, affecting phagocytic blood cells, which predispose patients to recurrent infectious complications. Herein, an 11-year-old girl is described who presented with liver abscess at the age of 9 years. Positive dihydrorhodamine (DHR) and nitrobluetetrazolium (NBT) tests confirmed the diagnosis of CGD for the patient. Anti-tuberculosis drugs and parenteral antibiotic therapy were started. Unusual visceral abscess and recurrent infections should be considered as an alarm for primary immunodeficiency diseases, while early diagnosis and appropriate treatment could prevent severe complications and even death in this group of patients.
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