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Disseminated mucormycosis leading to a fatal gastrointestinal perforation in a pediatric case of EBV-associated Hemophagocytic lymphohistiocytosis

Summary

A 12-month-old girl with a severe immune system disorder (HLH) triggered by Epstein-Barr virus developed a life-threatening fungal infection (mucormycosis) that spread throughout her digestive system. Despite aggressive treatment with multiple antifungal medications and emergency surgery, the infection caused her intestines to perforate, leading to her death. The case highlights the difficulty in recognizing fungal infections early in immunocompromised children and the need for heightened clinical awareness.

Background

Disseminated mucormycosis is a rare and often fatal infection primarily affecting immunocompromised individuals. Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome characterized by persistent fever, hepatosplenomegaly, and pancytopenia. Children with HLH are profoundly immunosuppressed and highly susceptible to opportunistic infections, particularly invasive fungal infections.

Objective

To present a case of a 12-month-old female with EBV-associated HLH complicated by an underlying NK-cell perforin deficiency who developed life-threatening disseminated mucormycosis with extensive gastrointestinal involvement.

Results

The patient presented with HLH confirmed by hepatosplenomegaly, severe cytopenia, hypofibrinogenemia, hypertriglyceridemia, elevated ferritin, and high EBV viral load. Flow cytometry revealed undetectable perforin expression and severely deficient granzyme B expression. Despite HLH-2004 protocol therapy, the patient developed disseminated mucormycosis involving the entire gastrointestinal tract from stomach to ileum, resulting in fatal gastrointestinal perforation on day 28.

Conclusion

Mucormycosis poses a critical and often overlooked threat in immunocompromised pediatric patients with HLH. Early recognition of subtle clinical signs such as black eschar and hypodense MRI lesions indicative of tissue infarction, combined with prompt invasive tissue testing, is essential for diagnosis and treatment.
  • Published in:Medical Mycology Case Reports,
  • Study Type:Case Report,
  • Source: PMID: 41140299
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