Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late-onset primary isolated central nervous system hemophagocytic lymphohistiocytosis.
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.
['Khazal|Sajad|S|0000-0002-3731-608X', 'Polishchuk|Veronika|V|', 'Soffer|Gary|G|', 'Prinzing|Samantha|S|', 'Gill|Jonathan|J|', 'Mahadeo|Kris M|KM|']
D000293:Adolescent D002493:Central Nervous System Diseases D018380:Hematopoietic Stem Cell Transplantation D006801:Humans D051359:Lymphohistiocytosis, Hemophagocytic D008297:Male D019172:Transplantation Conditioning D014184:Transplantation, Homologous
hematopoietic stem cell transplantation isolated central nervous system hemophagocytic lymphohistiocytosis primary hemophagocytic lymphohistiocytosis