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Chronic granulomatous disease presenting with salmonella brain abscesses

Andrea Finocchi1, Alessia Claps, Jessica Serafinelli

  • 1From the *Unit of Immunology and Infectious Diseases, University-Hospital Pediatric Department; †Unit of Radiology, Bambino Gesù Children Hospital, IRCCS; ‡Department of Public Health and Cellular Biology, Tor Vergata University, Rome; and §Pediatric Immunohematology and Bone Marrow Transplant Unit and San Raffaele Telethon Institute for Gene Therapy (HSR-TIGET), HS Raffaele Scientific Institute, Milan, Italy.

The Pediatric Infectious Disease Journal
|January 22, 2014
PubMed

Insights

Chronic granulomatous disease (CGD) is a rare immunodeficiency. A young boy with CGD developed Salmonella brain abscesses, a rare complication in CGD patients.

Area of Science:

  • Immunology
  • Infectious Diseases
  • Neurology

Background:

  • Chronic granulomatous disease (CGD) is a rare inherited disorder of the immune system.
  • It is characterized by a defect in phagocytic cells, impairing the body's ability to fight certain infections.
  • Patients with CGD are susceptible to recurrent, severe infections, often caused by bacteria and fungi.

Observation:

  • A 43-month-old boy diagnosed with CGD presented with a brain abscess.
  • Cerebral abscesses are uncommon manifestations of CGD.
  • The causative pathogen was identified as Salmonella species.

Findings:

  • This case highlights a rare presentation of CGD with Salmonella spp. brain abscesses.
  • A literature review identified 13 similar cases, underscoring the association between CGD and Salmonella infections in the central nervous system.
  • Phagocytic cell dysfunction in CGD significantly increases susceptibility to such invasive infections.

Implications:

  • Early diagnosis and management of CGD are crucial to prevent severe infectious complications.
  • Invasive Salmonella infections, particularly brain abscesses, should be considered in the differential diagnosis of patients with CGD.
  • Understanding these associations can guide clinical vigilance and therapeutic strategies for individuals with primary immunodeficiencies.

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