Journal of Neuro-Ophthalmology

Skip Navigation LinksHome > March 2014 - Volume 34 - Issue 1 > Downbeat Nystagmus Secondary to Familial Hemophagocytic Lymp...
Journal of Neuro-Ophthalmology:
doi: 10.1097/WNO.0000000000000064
Clinical Observation

Downbeat Nystagmus Secondary to Familial Hemophagocytic Lymphohistiocytosis

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

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Abstract: 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.

© 2014 by North American Neuro-Ophthalmology Society


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