以下消化道出血和噬血细胞综合征为首发症状的儿童慢性活动性EBV病临床诊断1例并文献复习

A Clinically Diagnosed Case of Chronic Active Epstein‑Barr Virus Disease in a Child Presenting with Lower Gastrointestinal Bleeding and Hemophagocytic Lymphohistiocytosis as Initial Manifestations: A Case Report and Literature Review

摘要: 目的：总结1例以高热和下消化道出血起病、并发噬血细胞综合征(Hemophagocytic Lymphohistiocytosis, HLH)，后期临床诊断为慢性活动性EBV病(Chronic Active Epstein-Barr Virus disease, CAEBV)患儿的诊治经过。方法：回顾患儿临床、实验室、手术、病理及随访资料，并结合相关文献进行分析。结果：患儿女，1岁5个月，因持续高热和便血入院，早期出现休克，并符合HLH-2004标准中的发热、脾大、两系细胞减少、铁蛋白升高和骨髓噬血5项，按感染相关继发性HLH治疗。小肠病变切除术后病理示广泛溃疡、EBER阳性淋巴细胞浸润及TCR基因单克隆重排。治疗期间EBV-DNA一度低于检测下限，随后再次明显升高。病程超过4个月后，结合反复的系统性表现、EBV-DNA动态异常、组织病理及排除性检查，临床诊断为CAEBV。经免疫化疗及手术治疗后病情缓解，随访近4年未再出现消化道出血。结论：儿童CAEBV可表现为严重消化道出血并发HLH。对持续发热、消化道出血且病因不明的患儿，应结合病程、EBV-DNA动态变化和组织病理进行连续评估。

Abstract: Objective: To summarize the clinical course of a child who presented with high fever and lower gastrointestinal bleeding, developed hemophagocytic lymphohistiocytosis (HLH), and was later clinically diagnosed with chronic active Epstein-Barr virus disease (CAEBV). Methods: The clinical, laboratory, surgical, pathological, and follow-up data were retrospectively reviewed together with relevant literature. Results: A 17-month-old girl was admitted with persistent fever and hematochezia. Shock developed early in the hospital course. She met five HLH-2004 criteria: fever, splenomegaly, bicytopenia, hyperferritinemia, and bone-marrow hemophagocytosis, and was treated as infection-associated secondary HLH. Histopathological examination after small-intestinal resection showed extensive ulceration, EBER-positive lymphocytic infiltration, and monoclonal TCR gene rearrangement. EBV-DNA fell below the assay detection limit during treatment and subsequently increased markedly. After the disease course exceeded four months, CAEBV was clinically diagnosed on the basis of recurrent systemic manifestations, serial EBV-DNA abnormalities, tissue findings, and exclusion of alternative diagnoses. The patient improved after immunochemotherapy and surgery, and no recurrent gastrointestinal bleeding occurred during nearly four years of follow-up. Conclusion: Pediatric CAEBV may present with severe gastrointestinal bleeding and HLH. In children with persistent fever and unexplained gastrointestinal bleeding, serial assessment of disease duration, EBV-DNA changes, and tissue pathology may facilitate diagnosis.