Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late-onset primary isolated central nervous system hemophagocytic lymphohistiocytosis

Sajad Khazal, Veronika Polishchuk, Gary Soffer, Samantha Prinzing, Jonathan Gill, Kris M. Mahadeo

Research output: Contribution to journalArticle

3 Scopus citations

Abstract

Primary isolated CNS presentation of HLH is exceedingly rare and typically associated with significant morbidity and mortality. We describe an adolescent patient with late-onset, primary isolated CNS HLH and a compound heterozygous PRF1 mutation (c50delT (p.L17 fs); c.1229G>C (p.R410P)), not previously reported with this phenotype. He was successfully treated with allogeneic HSCT following a reduced-intensity conditioning regimen, despite a high pre-HSCT comorbidity index. Two years after transplant, he is alive and in disease remission. While patients with systemic HLH and active CNS disease have relatively poorer outcomes, a high index of suspicion may aid with early diagnosis of primary isolated CNS HLH; prompt treatment with HSCT may be associated with improved cure and durable remission of this rare disease.

Original languageEnglish (US)
JournalPediatric Transplantation
DOIs
StateAccepted/In press - Jan 1 2017
Externally publishedYes

Keywords

  • Hematopoietic stem cell transplantation
  • Isolated central nervous system hemophagocytic lymphohistiocytosis
  • Primary hemophagocytic lymphohistiocytosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Transplantation

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