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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 serious immune system disorder called HLH developed a rare and dangerous fungal infection called mucormycosis. Despite receiving the best available treatments, the fungal infection spread throughout her digestive system and caused a perforation (hole) in her intestines. The doctors found it difficult to diagnose the fungal infection early because the warning signs were subtle, and the infection progressed very rapidly. Unfortunately, the girl passed away despite emergency surgery and high-dose antifungal medications.

Background

Disseminated mucormycosis is a rare and often fatal infection primarily affecting immunocompromised individuals. Hemophagocytic lymphohistiocytosis (HLH) is a severe hyperinflammatory syndrome that renders patients profoundly immunosuppressed and susceptible to opportunistic infections, including invasive fungal infections.

Objective

To present and discuss a case of disseminated mucormycosis complicating EBV-associated HLH in a pediatric patient and highlight the diagnostic challenges and clinical manifestations of this lethal fungal infection.

Results

The patient developed disseminated mucormycosis involving the entire gastrointestinal tract despite HLH-2004 protocol therapy and maximal supportive care. Early warning signs included a black eschar on the nasal bridge and hypodense lesions on MRI imaging. Emergency laparotomy revealed extensive gastric necrosis with Mucorales hyphae confirmed on histopathology. The patient died on day 28 of hospitalization despite escalation to high-dose liposomal amphotericin B.

Conclusion

Physicians must maintain high clinical suspicion for mucormycosis in immunocompromised pediatric patients with HLH, as early non-specific signs such as tissue necrosis may be overlooked. Prompt tissue biopsy and investigation of involved organs upon suspicion are critical for timely diagnosis and intervention.
  • Published in:Medical Mycology Case Reports,
  • Study Type:Case Report,
  • Source: PMID: 41140299, DOI: 10.1016/j.mmcr.2025.100744
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