Isolated central nervous system familial hemophagocytic lymphohistiocytosis (fHLH) presenting as a mimic of demyelination in children

Amitav Parida, Omar Abdel-Mannan, Kshtiji Mankad, Katharine Foster, Sithara Ramdas, Dipak Ram, Despina Eleftheriou, Cheryl Hemingway, Yael Hacohen, Evangeline Wassmer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Isolated central nervous system (CNS) presentations of haemophagocytic lymphohistiocytosis (HLH), traditionally a systemic inflammatory condition, have been reported in adults and children. We identified nine patients with a diagnosis of isolated CNS familial hemophagocytic lymphohistiocytosis (fHLH) with symptom onset <18 years of age, and one asymptomatic sibling. Children with atypical chronic/recurrent CNS inflammation should be considered for immunological and genetic panel testing for fHLH even in the absence of any systemic inflammatory features. Despite haematopoietic stem cell transplantation (HSCT) being a mainstay of treatment, treatment failure and high morbidity and mortality post-HSCT suggest that alternative immune therapies may be worth considering.

Original languageEnglish
JournalMultiple Sclerosis Journal
Early online date27 Oct 2021
DOIs
Publication statusE-pub ahead of print - 27 Oct 2021

Keywords

  • central nervous system haemophagocytic lymphohistiocytosis
  • Hemophagocytic lymphohistiocytosis
  • multiple sclerosis mimics
  • paediatric demyelination

Fingerprint

Dive into the research topics of 'Isolated central nervous system familial hemophagocytic lymphohistiocytosis (fHLH) presenting as a mimic of demyelination in children'. Together they form a unique fingerprint.

Cite this