A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency

Andrew D. Beaty, Christin Weller, Beth Levy, Carole Vogler, William S. Ferguson, Alma Bicknese, Alan P. Knutsen

Research output: Contribution to journalArticlepeer-review

24 Scopus citations

Abstract

Familial hemophagocytic lymphohistiocytosis (FHLH) is an autosomal recessive disorder of cytotoxic cell function that results in abnormal proliferation of benign lymphocytes and histiocytes in response to infectious stimuli. FHLH generally occurs in very young children, and typically presents with fever, cytopenias, coagulopathy, lymphadenopathy, and hepatosplenomegaly. Central nervous system involvement occurs frequently and may precede the development of systemic symptoms by months to years. We report a case of an 18-year-old male with a 2-year history of symptoms attributed to a demyelinating disorder, who succumbed to rapidly progressive hemophagocyte lymphohistiocytosis. Post-mortem, two distinct perforin mutations were identified. We discuss the central nervous system and genetic findings in this unusual presentation of familial hemophagocytic lymphohistiocytosis.

Original languageEnglish (US)
Pages (from-to)1070-1072
Number of pages3
JournalPediatric Blood and Cancer
Volume50
Issue number5
DOIs
StatePublished - May 1 2008

Keywords

  • Epstein-Barr virus (EBV)
  • Familial hemophagocytic lymphohistiocytosis (FHLH)
  • Perforin deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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