Khazal Sajad, Polishchuk Veronika, Soffer Gary, Prinzing Samantha, Gill Jonathan, Mahadeo Kris M
Pediatric Stem Cell Transplantation and Cellular Therapy, University of Texas MD Anderson Children's Cancer Hospital, Houston, TX, USA.
Pediatric Marrow and Blood Cell Transplantation Program, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.
Pediatr Transplant. 2018 Feb;22(1). doi: 10.1111/petr.13101. Epub 2017 Dec 13.
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.
噬血细胞性淋巴组织细胞增生症（HLH）的原发性孤立性中枢神经系统表现极为罕见，通常与显著的发病率和死亡率相关。我们描述了一名患有迟发性原发性孤立性中枢神经系统HLH的青少年患者，其携带一种复合杂合PRF1突变（c50delT (p.L17 fs)；c.1229G>C (p.R410P)），此前未有这种表型的报道。尽管移植前合并症指数较高，但他在接受减低强度预处理方案后成功接受了异基因造血干细胞移植（HSCT）。移植两年后，他存活且疾病缓解。虽然患有系统性HLH和活动性中枢神经系统疾病的患者预后相对较差，但高度怀疑可能有助于原发性孤立性中枢神经系统HLH的早期诊断；及时进行HSCT治疗可能会提高这种罕见疾病的治愈率并实现持久缓解。
