Pediatric CNS-isolated hemophagocytic lymphohistiocytosis

• Published in: Neurology : neuroimmunology & neuroinflammation 2019-05, Vol.6 (3), p.e560-e560
• Main Authors: Benson, Leslie A, Li, Hojun, Henderson, Lauren A, Solomon, Isaac H, Soldatos, Ariane, Murphy, Jennifer, Bielekova, Bibiana, Kennedy, Alyssa L, Rivkin, Michael J, Davies, Kimberly J, Hsu, Amy P, Holland, Steven M, Gahl, William A, Sundel, Robert P, Lehmann, Leslie E, Lee, Michelle A, Alexandrescu, Sanda, Degar, Barbara A, Duncan, Christine N, Gorman, Mark P
• Format: Article
• Language: English
• ISSN: 2332-7812; 2332-7812
• DOI: 10.1212/NXI.0000000000000560

OBJECTIVETo highlight a novel, treatable syndrome, we report 4 patients with CNS-isolated inflammation associated with familial hemophagocytic lymphohistiocytosis (FHL) gene mutations (CNS-FHL). METHODSRetrospective chart review. RESULTSPatients 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. CONCLUSIONSEarly and accurate diagnosis followed by treatment with HCT can reduce morbidity and mortality in CNS-FHL, a novel, treatable syndrome. CLASSIFICATION OF EVIDENCEThis study provides Class IV evidence that HCT is well tolerated and effective in treating CNS-FHL.