Systemic Penicillium marneffei infection in a child with common variable immunodeficiency

Area of Science:

• Mycology
• Immunology
• Pediatrics

Background:

• Penicillium marneffei is an opportunistic fungal pathogen, typically causing disease in individuals with compromised immune systems, particularly those with human immunodeficiency virus (HIV) infection.
• While most reported cases originate from Southeast Asia, P. marneffei infections have been documented globally, often associated with underlying conditions like malignancy or immunodeficiency.
• In Taiwan, P. marneffei infections were initially reported in adults with HIV; this case represents a distinct presentation in a pediatric patient.

Observation:

• A 4-year-old boy presented with a year-long history of oligoarthritis mimicking juvenile rheumatoid arthritis (JRA), followed by fever and hepatosplenomegaly.
• Initial synovial fluid cultures were negative, but subsequent blood, bone marrow, synovial fluid, and lymph node biopsies confirmed systemic Penicillium marneffei infection.
• Immunologic evaluation revealed a diagnostic profile consistent with common variable immunodeficiency (CVID).

Findings:

• This case details the first reported instance of systemic Penicillium marneffei infection in a child diagnosed with common variable immunodeficiency (CVID).
• The fungal infection presented with non-specific symptoms including arthritis, fever, and hepatosplenomegaly, underscoring the diagnostic challenge.
• Successful eradication of the P. marneffei infection was achieved through a combination of antifungal agents (amphotericin B, fluconazole, itraconazole) and immunoglobulin replacement therapy.

Implications:

• This case underscores the importance of considering rare fungal infections, such as Penicillium marneffei, in the differential diagnosis of pediatric arthritis, especially in immunocompromised children.
• It highlights CVID as a potential underlying condition predisposing to disseminated fungal infections.
• Early recognition and appropriate combined therapeutic strategies are crucial for managing systemic P. marneffei infections in pediatric patients with immunodeficiencies.