Scientific article
Case report
Open access

X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children - A Case Report

Published inFrontiers in pediatrics, vol. 9, 691024
Publication date2021
First online date2021-08-03

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.

  • HLH
  • MIS-C
  • SARS-CoV-2
  • XLP1
  • Case report
  • Fatal
  • Pediatric
Citation (ISO format)
PRADER, Seraina et al. X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children - A Case Report. In: Frontiers in pediatrics, 2021, vol. 9, p. 691024. doi: 10.3389/fped.2021.691024
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Article (Published version)
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ISSN of the journal2296-2360

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