Downbeat nystagmus secondary to familial hemophagocytic lymphohistiocytosis

Cindy X. Cai, Frank S. Siringo, Jeffrey G. Odel, Angela Lignelli-Dipple, Bryan A. Lanzman, Tatyana Gindin, Alexandra H. Filipovich

Research output: Contribution to journalArticlepeer-review


Hemophagocytic lymphohistiocytosis is a rare autosomal recessive disorder characterized by severe inflammation induced by defective natural killer cell function, which triggers a state of highly stimulated but ineffective immune response. This disorder can affect multiple organ systems, and neurologic manifestations include irritability, seizures, impaired consciousness, meningismus, and cranial nerve palsies. We describe a unique case of hemophagocytic lymphohistiocytosis in which downbeat nystagmus developed due to cerebellar swelling with compression of the cervicomedullary junction.

Original languageEnglish (US)
Pages (from-to)57-60
Number of pages4
JournalJournal of Neuro-Ophthalmology
Issue number1
StatePublished - Mar 2014
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology
  • Clinical Neurology

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