Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late-onset primary isolated central nervous system hemophagocytic lymphohistiocytosis.
Pediatr Transplant
; 22(1)2018 02.
Article
em En
| MEDLINE
| ID: mdl-29239076
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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças do Sistema Nervoso Central
/
Transplante de Células-Tronco Hematopoéticas
/
Linfo-Histiocitose Hemofagocítica
Tipo de estudo:
Risk_factors_studies
/
Screening_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Transplant
Assunto da revista:
PEDIATRIA
/
TRANSPLANTE
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos