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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.

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