Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late‐onset primary isolated central nervous system hemophagocytic lymphohistiocytosis. (13th December 2017)

• Record Type: Journal Article
• Authors: Khazal, Sajad; Polishchuk, Veronika; Soffer, Gary; Prinzing, Samantha; Gill, Jonathan; Mahadeo, Kris M.
• Is Part Of: Pediatric transplantation. Volume 22:Number 1(2018)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2017-12-13
• Subjects: hematopoietic stem cell transplantation -- isolated central nervous system hemophagocytic lymphohistiocytosis -- primary hemophagocytic lymphohistiocytosis; Transplantation of organs, tissues, etc. in children -- Periodicals; 617.95408305
• DOI: 10.1111/petr.13101
• Languages: English
• ISSNs: 1397-3142

Abstract

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.