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Anterior chest wall protrusion as initial presentation of chronic granulomatous disease: a case report

Setareh Mamishi1, Fatemeh Fattahi, Alireza Radmanesh

  • 1Department of Pediatric Infectious Disease, Children Medical Center, Tehran University of Medical Sciences, Tehran, I.R. Iran. smamishi@sina.tums.ac.ir

Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology
|December 14, 2005
PubMed

Insights

Chronic granulomatous disease (CGD) is a rare immunodeficiency causing severe infections. This case highlights an unusual presentation of CGD in an infant with an aspergillosis mass causing chest wall protrusion.

Area of Science:

  • Pediatric Immunology
  • Infectious Diseases
  • Genetics

Background:

  • Chronic granulomatous disease (CGD) is a rare inherited disorder of the immune system.
  • It is characterized by the inability of phagocytes to kill certain ingested microorganisms, leading to recurrent, severe infections.

Observation:

  • A 4-month-old female infant presented with an unusual initial symptom: an anterior chest wall protrusion.
  • Imaging revealed a significant aspergillosis mass as the cause of the protrusion.

Findings:

  • The infant was diagnosed with Chronic Granulomatous Disease (CGD).
  • This case underscores that CGD can manifest with atypical presentations, such as a large fungal mass causing external deformity.

Implications:

  • Early diagnosis and management of CGD are crucial to prevent life-threatening infections.
  • This case expands the spectrum of clinical presentations for CGD, emphasizing the need for high clinical suspicion in infants with unusual infections or masses.
  • Awareness of such presentations can aid clinicians in timely diagnosis and intervention for pediatric CGD cases.

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