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Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late‐onset primary isolated central nervous system hemophagocytic lymphohistiocytosis
Author(s) -
Khazal Sajad,
Polishchuk Veronika,
Soffer Gary,
Prinzing Samantha,
Gill Jonathan,
Mahadeo Kris M.
Publication year - 2018
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/petr.13101
Subject(s) - medicine , hemophagocytic lymphohistiocytosis , hematopoietic stem cell transplantation , disease , transplantation , immune dysregulation , regimen , pediatrics
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 PRF 1 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.