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.
| Original language | English (US) |
|---|---|
| Journal | Pediatric Transplantation |
| DOIs | |
| State | Accepted/In press - Jan 1 2017 |
| Externally published | Yes |
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Keywords
- Hematopoietic stem cell transplantation
- Isolated central nervous system hemophagocytic lymphohistiocytosis
- Primary hemophagocytic lymphohistiocytosis
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Transplantation
Cite this
Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late-onset primary isolated central nervous system hemophagocytic lymphohistiocytosis. / Khazal, Sajad; Polishchuk, Veronika; Soffer, Gary; Prinzing, Samantha; Gill, Jonathan; Mahadeo, Kris M.
In: Pediatric Transplantation, 01.01.2017.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Allogeneic hematopoietic stem cell transplantation is associated with cure and durable remission of late-onset primary isolated central nervous system hemophagocytic lymphohistiocytosis
AU - Khazal, Sajad
AU - Polishchuk, Veronika
AU - Soffer, Gary
AU - Prinzing, Samantha
AU - Gill, Jonathan
AU - Mahadeo, Kris M.
PY - 2017/1/1
Y1 - 2017/1/1
N2 - 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.
AB - 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.
KW - Hematopoietic stem cell transplantation
KW - Isolated central nervous system hemophagocytic lymphohistiocytosis
KW - Primary hemophagocytic lymphohistiocytosis
UR - http://www.scopus.com/inward/record.url?scp=85038018158&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85038018158&partnerID=8YFLogxK
U2 - 10.1111/petr.13101
DO - 10.1111/petr.13101
M3 - Article
AN - SCOPUS:85038018158
JO - Pediatric Transplantation
JF - Pediatric Transplantation
SN - 1397-3142
ER -