Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late‐onset primary isolated central nervous system hemophagocytic lymphohistiocytosis |
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| Authors: | Sajad Khazal Veronika Polishchuk Gary Soffer Samantha Prinzing Jonathan Gill Kris M Mahadeo |
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| Institution: | 1. Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Children's Cancer Hospital, Houston, TX, USA;2. Pediatric Marrow and Blood Cell Transplantation Program, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA;3. Division of Allergy and Immunology, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA |
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| 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. |
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| Keywords: | hematopoietic stem cell transplantation isolated central nervous system hemophagocytic lymphohistiocytosis primary hemophagocytic lymphohistiocytosis |
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