儿童中枢神经系统孤立性噬血细胞性淋巴组织细胞增生症。
Pediatric CNS-isolated hemophagocytic lymphohistiocytosis.
机构信息
Department of Neurology (L.A.B., M.J.R., M.P.G.), Boston Children's Hospital; Dana-Farber/Boston Children's Cancer and Blood Disorders Center (H.L., A.L.K., L.E.L., B.A.D., C.N.D.); Department of Rheumatology (L.A.H., R.P.S.), Boston Children's Hospital; Department of Pathology (I.H.S002E, S.A.), Boston Children's Hospital, Boston, MA; Undiagnosed Diseases Program (A.S., J.M., W.A.G.), National Human Genome Research Institute; Neuroimmunological Diseases Section (B.B.), Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases; Laboratory of Clinical Immunology and Microbiology (A.P.H., S.M.H.), National Institute of Allergy and Infectious Diseases, Bethesda, MD; and Division of Hematology, Oncology (M.L.A.), and Marrow and Blood Cell Transplantation, Children's Hospital at Montefiore, Bronx, NY.
出版信息
Neurol Neuroimmunol Neuroinflamm. 2019 Apr 8;6(3):e560. doi: 10.1212/NXI.0000000000000560. eCollection 2019 May.
OBJECTIVE
To highlight a novel, treatable syndrome, we report 4 patients with CNS-isolated inflammation associated with familial hemophagocytic lymphohistiocytosis (FHL) gene mutations (CNS-FHL).
METHODS
Retrospective chart review.
RESULTS
Patients with CNS-FHL are characterized by chronic inflammation restricted to the CNS that is not attributable to any previously described neuroinflammatory etiology and have germline mutations in known FHL-associated genes with no signs of systemic inflammation. Hematopoietic stem cell transplantation (HCT) can be well tolerated and effective in achieving or maintaining disease remission in patients with CNS-FHL.
CONCLUSIONS
Early and accurate diagnosis followed by treatment with HCT can reduce morbidity and mortality in CNS-FHL, a novel, treatable syndrome.
CLASSIFICATION OF EVIDENCE
This study provides Class IV evidence that HCT is well tolerated and effective in treating CNS-FHL.
目的
强调一种新的、可治疗的综合征，我们报告了 4 例与家族性噬血细胞性淋巴组织细胞增多症（FHL）基因突变相关的中枢神经系统孤立性炎症（CNS-FHL）患者。
方法
回顾性病历分析。
结果
CNS-FHL 患者的特征为慢性炎症局限于中枢神经系统，且不能归因于任何先前描述的神经炎症病因，同时具有已知与 FHL 相关的基因突变，但无全身炎症迹象。造血干细胞移植（HCT）可耐受良好，对 CNS-FHL 患者达到或维持疾病缓解有效。
结论
早期和准确的诊断，随后进行 HCT 治疗，可以降低 CNS-FHL 的发病率和死亡率，这是一种新的、可治疗的综合征。
证据分类
本研究提供了 IV 级证据，表明 HCT 可耐受良好，且对治疗 CNS-FHL 有效。
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