Pediatric CNS-isolated hemophagocytic lymphohistiocytosis

Leslie A. Benson; Hojun Li; Lauren A. Henderson; Isaac H. Solomon; Ariane Soldatos; Jennifer Murphy; Bibiana Bielekova; Alyssa L. Kennedy; Michael J. Rivkin; Kimberly J. Davies; Amy P. Hsu; Steven M. Holland; William A. Gahl; Robert P. Sundel; Leslie E. Lehmann; Michelle A. Lee; Sanda Alexandrescu; Barbara A. Degar; Christine N. Duncan; Mark P. Gorman

doi:10.1212/NXI.0000000000000560

Pediatric CNS-isolated hemophagocytic lymphohistiocytosis

Leslie A. Benson, Hojun Li, Lauren A. Henderson, Isaac H. Solomon, Ariane Soldatos, Jennifer Murphy, Bibiana Bielekova, Alyssa L. Kennedy, Michael J. Rivkin, Kimberly J. Davies, Amy P. Hsu, Steven M. Holland, William A. Gahl, Robert P. Sundel, Leslie E. Lehmann, Michelle A. Lee, Sanda Alexandrescu, Barbara A. Degar, Christine N. Duncan, Mark P. Gorman

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36 Scopus citations

Abstract

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.

Original language	English (US)
Article number	e560
Journal	Neurology: Neuroimmunology and NeuroInflammation
Volume	6
Issue number	3
DOIs	https://doi.org/10.1212/NXI.0000000000000560
State	Published - May 1 2019
Externally published	Yes

ASJC Scopus subject areas

Neurology
Clinical Neurology

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10.1212/NXI.0000000000000560

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Benson, L. A., Li, H., Henderson, L. A., Solomon, I. H., Soldatos, A., Murphy, J., Bielekova, B., Kennedy, A. L., Rivkin, M. J., Davies, K. J., Hsu, A. P., Holland, S. M., Gahl, W. A., Sundel, R. P., Lehmann, L. E., Lee, M. A., Alexandrescu, S., Degar, B. A., Duncan, C. N., & Gorman, M. P. (2019). Pediatric CNS-isolated hemophagocytic lymphohistiocytosis. Neurology: Neuroimmunology and NeuroInflammation, 6(3), [e560]. https://doi.org/10.1212/NXI.0000000000000560

Benson, LA, Li, H, Henderson, LA, Solomon, IH, Soldatos, A, Murphy, J, Bielekova, B, Kennedy, AL, Rivkin, MJ, Davies, KJ, Hsu, AP, Holland, SM, Gahl, WA, Sundel, RP, Lehmann, LE, Lee, MA, Alexandrescu, S, Degar, BA, Duncan, CN & Gorman, MP 2019, 'Pediatric CNS-isolated hemophagocytic lymphohistiocytosis', Neurology: Neuroimmunology and NeuroInflammation, vol. 6, no. 3, e560. https://doi.org/10.1212/NXI.0000000000000560

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title = "Pediatric CNS-isolated hemophagocytic lymphohistiocytosis",

abstract = "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.",

author = "Benson, {Leslie A.} and Hojun Li and Henderson, {Lauren A.} and Solomon, {Isaac H.} and Ariane Soldatos and Jennifer Murphy and Bibiana Bielekova and Kennedy, {Alyssa L.} and Rivkin, {Michael J.} and Davies, {Kimberly J.} and Hsu, {Amy P.} and Holland, {Steven M.} and Gahl, {William A.} and Sundel, {Robert P.} and Lehmann, {Leslie E.} and Lee, {Michelle A.} and Sanda Alexandrescu and Degar, {Barbara A.} and Duncan, {Christine N.} and Gorman, {Mark P.}",

note = "Funding Information: The authors gratefully acknowledge Biogen for providing natalizumab through compassionate use. This work was supported in part by the Intramural Research Programs of the National Human Genome Research Institute, the National Institute of Neurologic Disorders and Stroke, the National Institute of Allergy and Infectious Diseases, and the Common Fund, Office of the Director, NIH, Bethesda, MD. Funding Information: The Article Processing Charge was funded by the authors. Publisher Copyright: {\textcopyright} 2019 American Academy of Neurology.",

year = "2019",

month = may,

day = "1",

doi = "10.1212/NXI.0000000000000560",

language = "English (US)",

volume = "6",

journal = "Neurology: Neuroimmunology and NeuroInflammation",

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T1 - Pediatric CNS-isolated hemophagocytic lymphohistiocytosis

AU - Benson, Leslie A.

AU - Li, Hojun

AU - Henderson, Lauren A.

AU - Solomon, Isaac H.

AU - Soldatos, Ariane

AU - Murphy, Jennifer

AU - Bielekova, Bibiana

AU - Kennedy, Alyssa L.

AU - Rivkin, Michael J.

AU - Davies, Kimberly J.

AU - Hsu, Amy P.

AU - Holland, Steven M.

AU - Gahl, William A.

AU - Sundel, Robert P.

AU - Lehmann, Leslie E.

AU - Lee, Michelle A.

AU - Alexandrescu, Sanda

AU - Degar, Barbara A.

AU - Duncan, Christine N.

AU - Gorman, Mark P.

N1 - Funding Information: The authors gratefully acknowledge Biogen for providing natalizumab through compassionate use. This work was supported in part by the Intramural Research Programs of the National Human Genome Research Institute, the National Institute of Neurologic Disorders and Stroke, the National Institute of Allergy and Infectious Diseases, and the Common Fund, Office of the Director, NIH, Bethesda, MD. Funding Information: The Article Processing Charge was funded by the authors. Publisher Copyright: © 2019 American Academy of Neurology.

PY - 2019/5/1

Y1 - 2019/5/1

N2 - 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.

AB - 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.

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Pediatric CNS-isolated hemophagocytic lymphohistiocytosis

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