Fatal invasive aspergillosis in a child with chronic granulomatous disease

Area of Science:

• Immunology
• Mycology
• Pediatrics

Background:

• Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by impaired phagocyte function.
• Patients with CGD are susceptible to recurrent, life-threatening bacterial and fungal infections and granulomatous complications.
• Invasive fungal infections, particularly by Aspergillus species, pose a significant threat to immunocompromised individuals.

Observation:

• A case of invasive aspergillosis caused by *Aspergillus fumigatus* in an 8-year-old boy with CGD is presented.
• The patient exhibited a complex clinical presentation including pneumonia, pleural effusion, cerebral venous sinus thrombosis, and unusual skin lesions.
• The infection progressed despite treatment with itraconazole, other antifungal agents, and interferon-gamma.

Findings:

• The patient succumbed to cerebral venous sinus thrombosis and subsequent intracerebral hemorrhage due to increased intracranial pressure.
• Treatment with standard antifungal therapies and immunomodulators proved ineffective in controlling the invasive aspergillosis.
• The case underscores the aggressive nature of invasive aspergillosis in the context of CGD.

Implications:

• Early consideration of invasive aspergillosis is crucial in children with CGD presenting with invasive fungal infections.
• Involvement of the central nervous system in invasive fungal infections in CGD patients warrants prompt and aggressive diagnostic evaluation.
• This case highlights the limitations of current treatment strategies for invasive aspergillosis in severely immunocompromised pediatric patients.