Abstract
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.
Glossary
- ADEM=
- acute disseminated encephalomyelitis;
- CIS=
- clinically isolated syndrome;
- CLIPPERS=
- chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids;
- FHL=
- familial hemophagocytic lymphohistiocytosis;
- GVHD=
- graft-versus-host disease;
- HCT=
- hematopoietic cell transplantation;
- HLH=
- hemophagocytic lymphohistiocytosis;
- IVIg=
- IV immunoglobulin;
- MDEM=
- multiphasic ADEM;
- NK=
- natural killer;
- WBC=
- white blood cell
Footnotes
Funding information and disclosures are provided at the end of the article. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/NN.
↵* These authors contributed equally to the manuscript.
↵† These authors contributed equally to the manuscript and are co-corresponding authors.
The Article Processing Charge was funded by the authors.
Class of Evidence: NPub.org/coe
- Received January 8, 2019.
- Accepted in final form February 15, 2019.
- Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal.
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