X-Linked Lymphoproliferative Disease Mimicking Multisystem Inflammatory Syndrome in Children-A Case Report
type: Article
item type: journalArticle
is part of: Front Pediatr
authors: Person
  surname: Prader
  given name: S.
authors: Person
  surname: Ritz
  given name: N.
authors: Person
  surname: Baleydier
  given name: F.
authors: Person
  surname: Andre
  given name: M. C.
authors: Person
  surname: Stahli
  given name: N.
authors: Person
  surname: Schmid
  given name: K.
authors: Person
  surname: Schmid
  given name: H.
authors: Person
  surname: Woerner
  given name: A.
authors: Person
  surname: Diesch
  given name: T.
authors: Person
  surname: Meyer Sauteur
  given name: P. M.
authors: Person
  surname: Truck
  given name: J.
authors: Person
  surname: Gebistorf
  given name: F.
authors: Person
  surname: Opitz
  given name: L.
authors: Person
  surname: Killian
  given name: M. P.
authors: Person
  surname: Marchetti
  given name: T.
authors: Person
  surname: Vavassori
  given name: S.
authors: Person
  surname: Blanchard-Rohner
  given name: G.
authors: Person
  surname: Mc Lin
  given name: V.
authors: Person
  surname: Grazioli
  given name: S.
authors: Person
  surname: Pachlopnik Schmid
  given name: J.
subject: Hlh
subject: Mis-c
subject: Pims-ts
subject: SARS-CoV-2
subject: Xlp1
subject: advisory board for Emapalumab for SOBI. The remaining authors declare that the
subject: case report
subject: fatal
subject: pediatric
subject: relationships that could be construed as a potential conflict of interest.
subject: research was conducted in the absence of any commercial or financial
abstract: 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.
date: 2021-08-21
pages: 691024
coverage: 34414143

Front Pediatr
type: Journal
volume: 9
identifier: DOI 10.3389/fped.2021.691024
identifier: ISSN 2296-2360 (Print) 2296-2360 (Electronic) 2296-2360 (Linking)