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

一例EB病毒相关噬血细胞性淋巴组织细胞增生症患儿发生播散性毛霉菌病,最终导致致命性胃肠道穿孔。

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Abstract

Disseminated mucormycosis is a rare and often fatal infection, primarily affecting immunocompromised individuals. Its diagnosis is extremely challenging, as definitive identification of organisms in tissue by histopathology with culture confirmation can be invasive, slow, and insensitive. We present the case of a 12-month-old female with Hemophagocytic Lymphohistiocytosis (HLH), triggered by a high Epstein-Barr virus (EBV) viral load and complicated by an underlying NK-cell perforin deficiency. Despite rapid HLH-specific and maximal supportive care, the patient developed life-threatening mucormycosis with extensive gastrointestinal involvement. Clinicians should note insidious signs, such as a black eschar and hypodense lesions on MRI imaging findings, indicative of tissue infarction from hyphal vascular invasion in these susceptible hosts. Prompt invasive testing of involved organs is critical upon suspicion.

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