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Published on: November 17, 2021
Pediatric CNS-isolated hemophagocytic lymphohistiocytosis
Leslie A Benson1, Hojun Li1, Lauren A Henderson1
1Department 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.
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.
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