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

Frontiers in Pediatrics

article

Seraina Prader¹  Patrick M. Meyer Sauteur²  Johannes Trück¹  Fabienne Gebistorf³  Lennart Opitz⁴  Michael P. Killian¹  Tommaso Marchetti¹  Stefano Vavassori¹  Géraldine Blanchard-Rohner⁵  Valerie Mc Lin⁶  Serge Grazioli³  Nicole Ritz⁸  Jana Pachlopnik Schmid¹  Frédéric Baleydier^1,10  Maya C. Andre^1,12  Noémie Stähli^1,13  Kevin Schmid^1,14  Hanna Schmid⁸  Andreas Woerner^1,15  Tamara Diesch^1,16 

[1] Division of Immunology, University Children's Hospital Zurich;Division of Infectious Diseases and Hospital Epidemiology, University Children's Hospital Zurich;Division of Neonatal and Pediatric Intensive Care, University Hospitals of Geneva;Functional Genomic Center Zurich, University of Zurich and Swiss Federal Institute of Technology in Zurich;Unit of Immunology and Vaccinology, Division of General Pediatrics, Department of Woman, and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, University of Geneva;Swiss Pediatric Liver Center, Department for Women, University Hospitals Geneva;Medical Faculty, University of Geneva;University of Basel Children's Hospital Basel;Department of Pediatrics, The Royal Children's Hospital Melbourne, The University of Melbourne;Pediatric Hemato-Oncology Unit, Department for Women, University Hospitals Geneva;CANSEARCH Research Laboratory, Medical Faculty, Geneva University;University Children's Hospital, Division of Respiratory and Critical Care Medicine, University of Basel;Emergency Department, University Children's Hospital Zurich;Department of Pediatric and Neonatal Intensive Care, University Children's Hospital Zurich;Division of Pediatric Rheumatology, University of Basel Children's Hospital Basel;Division of Pediatric Hematology/Oncology, University Children's Hospital of Basel

关键词: case report;    fatal;    pediatric;    XLP1;    HLH;    SARS-CoV-2;    MIS-C;    PIMS-TS;   

DOI  :  10.3389/fped.2021.691024

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY