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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 developed a serious immune system disorder called hemophagocytic lymphohistiocytosis triggered by Epstein-Barr virus infection. Despite aggressive treatment, she developed a life-threatening fungal infection caused by mucormycosis that spread throughout her digestive system. The case illustrates how fungal infections can rapidly progress and become fatal in children with severely weakened immune systems, emphasizing the need for doctors to recognize early warning signs like tissue darkening on the skin.

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. This case presents a pediatric patient with EBV-associated HLH complicated by disseminated mucormycosis.

Objective

To present and analyze a case of disseminated mucormycosis in a 12-month-old female with EBV-associated HLH triggered by high EBV viral load and complicated by NK-cell perforin deficiency. The case highlights the critical need for vigilance regarding mucormycosis as a lethal complication in susceptible hosts.

Results

Patient was diagnosed with HLH supported by hepatosplenomegaly, severe neutropenia, anemia, thrombocytopenia, hypofibrinogenemia, and high EBV viral load. Despite HLH-2004 protocol therapy, patient developed disseminated mucormycosis with extensive gastrointestinal involvement. Emergency laparotomy revealed extensive unresectable mucormycosis from stomach to ileum with histopathology confirming Mucorales hyphae.

Conclusion

Early recognition of subtle clinical signs such as black eschar and hypodense lesions on MRI is critical for timely diagnosis of mucormycosis in susceptible hosts. Prompt invasive testing of involved organs is essential upon suspicion. Physicians should maintain vigilance for mucormycosis in both immunocompromised and immunocompetent patients.
  • Published in:Medical Mycology Case Reports,
  • Study Type:Case Report,
  • Source: PMID: 41140299, DOI: 10.1016/j.mmcr.2025.100744
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