Most children with a SARS-CoV-2 infection are asymptomatic or exhibit mild symptoms. However, a small number of children develop features of substantial inflammation temporarily related to the COVID-19 also called multisystem inflammatory syndrome in children (MIS-C) or pediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS), clinically similar to Kawasaki disease, toxic shock syndrome and hemophagocytic lymphohistiocytosis (HLH). It is well-known that genetic pre-disposition plays an important role in virally-triggered diseases such as Epstein-Barr virus (EBV)-associated HLH, while this has not yet been established for patients with MIS-C. Here we describe a male patient fulfilling the diagnostic criteria of MIS-C, who was initially treated according to current consensus guidelines. Presence of hypofibrinogenemia, normal lymphocyte counts and C-reactive protein, but substantial hyperferritinemia distinguish this patient from others with MIS-C. The clinical course following initial presentation with acute respiratory distress syndrome was marked by fatal liver failure in the context of EBV-associated HLH despite treatment with steroids, intravenous immunoglobulins, interleukin (IL)-1 receptor blockade and eventually HLH-directed treatment. X-linked lymphoproliferative disease type 1 (XLP1), a subtype of primary HLH was diagnosed in this patient post-mortem. This case report highlights the importance of including HLH in the differential diagnosis in MIS-C with severe disease course to allow specific, risk-adapted treatment and genetic counseling.
【저자키워드】 SARS-CoV-2, pediatric, PIMS-TS, MIS-C, Case report, HLH, fatal, XLP1, 【초록키워드】 COVID-19, Treatment, Inflammation, SARS-COV-2 infection, children, immunoglobulins, Genetic, C-reactive protein, virus, Steroids, Lymphocyte count, Shock, Clinical course, Asymptomatic, Kawasaki disease, male, Patient, Post-mortem, receptor, disease, liver, differential diagnosis, mild symptoms, acute respiratory distress, Hyperferritinemia, Inflammatory, intravenous, Diagnostic Criteria, Consensus, interleukin (IL)-1, syndrome, blockade, counseling, MOST, severe disease course, feature, highlight, initial, develop, clinically, diagnosed, treated, Presence, X-linked lymphoproliferative disease, 【제목키워드】 report,