Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late-onset primary isolated central nervous system hemophagocytic lymphohistiocytosis.
Sajad Jawad KhazalVeronika PolishchukGary SofferSamantha PrinzingJonathan GillKris M MahadeoPublished in: Pediatric transplantation (2017)
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.
Keyphrases
- late onset
- early onset
- allogeneic hematopoietic stem cell transplantation
- blood brain barrier
- hematopoietic stem cell
- acute lymphoblastic leukemia
- young adults
- acute myeloid leukemia
- case report
- mental health
- bone marrow
- metabolic syndrome
- stem cell transplantation
- low dose
- weight loss
- cerebrospinal fluid
- smoking cessation
- combination therapy