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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

Journal of Neuro-Ophthalmology: March 2014 - Volume 34 - Issue 1 - p 57–60
doi: 10.1097/WNO.0000000000000064
Clinical Observation

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.

Columbia University College of Physicians and Surgeons (CXC), New York, New York; Departments of Ophthalmology (FSS, JGO), Radiology (AL), and Pathology (TG); Columbia University Medical Center, New York Presbyterian Hospital, New York, New York; and Department of Clinical Immunology (AHF), Cincinnati Children's Hospital, University of Cincinnati, Cincinnati, Ohio.

Address correspondence to Cindy X. Cai, BS, 630 W 168th Street, Mailbox #347, New York, NY 10032; E-mail:

The authors report no conflicts of interest.

© 2014 by North American Neuro-Ophthalmology Society