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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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467688 | PMC |
| http://dx.doi.org/10.1212/NXI.0000000000000560 | DOI Listing |
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