Inoue Susumu, Mangat Chetna, Rafe'e Yaseen, Sharman Mahesh
Department of Hematology/Oncology, Hurley Children's Hospital, Flint, Michigan, USA.
Department of Pediatrics, Hurley Children's Hospital, Flint, Michigan, USA.
BMJ Case Rep. 2015 Jan 29;2015:bcr2014206190. doi: 10.1136/bcr-2014-206190.
Infants and young children often present with a persistent febrile episode, sick appearance and negative infectious disease work-up. These patients present serious diagnostic and therapeutic problems to those who provide medical care, particularly since these children are clinically sick. We present a 13 month old child who presented with this clinical challenge. She was ultimately thought to have an incomplete form of HLH with underlying pathophysiology of hypercytokinemia, but also could have been a case of incomplete form of Kawasaki disease. She responded to IVIG, but this does not differentiate one diagnosis from another. Unfortunately we failed to obtain tests to exclude genetic etiologies of HLH, which would be important for predicting severity and risks of future recurrence. We wish to present this case so that one should do a thorough work up to establish a firm diagnosis of HLH and to search for genetic causes of this disorder.
婴幼儿常常表现为持续性发热、病容以及感染性疾病检查结果为阴性。这些患儿给医护人员带来了严重的诊断和治疗难题，尤其是因为这些孩子临床上病情较重。我们介绍一名面临这一临床挑战的13个月大的儿童。她最终被认为患有不完全型噬血细胞性淋巴组织细胞增生症（HLH），潜在病理生理机制为高细胞因子血症，但也可能是不完全型川崎病的病例。她对静脉注射免疫球蛋白（IVIG）有反应，但这并不能区分这两种诊断。不幸的是，我们未能进行检查以排除HLH的遗传病因，而这对于预测严重程度和未来复发风险很重要。我们希望展示这个病例，以便人们应该进行全面检查以确立HLH的确切诊断，并寻找该疾病的遗传原因。
