A neurologic presentation of familial hemophagocytic lymphohistiocytosis which mimicked septic emboli to the brain

L. Christine Turtzo, Doris D.M. Lin, Helge Hartung, Peter B. Barker, Robert Arceci, Kaleb Yohay

Research output: Contribution to journalArticlepeer-review

Abstract

Familial hemophagocytic lymphohistiocytosis is an inherited deficiency of natural killer cell function and excessive cytokine activity, which predominantly presents in early childhood. The initial symptoms of familial hemophagocytic lymphohistiocytosis are often nonspecific but may be predominantly neurologic. The case presented here describes an 18-month-old boy who initially presented with fever, encephalopathy, and hemiparesis. He had innumerable brain lesions visualized on magnetic resonance imaging scans. An infectious etiology was excluded, and brain, liver, and bone marrow biopsies were nonspecific but consistent with hemophagocytic lymphohistiocytosis. Cells were sent for flow cytometry perforin analysis, which demonstrated defective natural killer cell function. A diagnosis of familial hemophagocytic lymphohistiocytosis was confirmed by mutation analysis and decreased expression of the perforin gene, in the patient and immediate family members. These results showed the patient to be a compound heterozygote for perforin mutations. His case illustrates the potential for a fulminant neurological presentation of familial hemophagocytic lymphohistiocytosis with widespread lesions in the brain.

Original languageEnglish (US)
Pages (from-to)863-868
Number of pages6
JournalJournal of child neurology
Volume22
Issue number7
DOIs
StatePublished - Jul 1 2007

Keywords

  • Hemophagocytic
  • Lymphohistiocytosis

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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