| Title |
Downbeat Nystagmus Secondary to Familial Hemophagocytic Lymphohistiocytosis |
| Creator |
Cai, Cindy X; Siringo, Frank S; Odel, Jeffrey G; Lignelli-Dipple, Angela; Lanzman, Bryan A; Gindin, Tatyana; Filipovich, Alexandra H |
| Affiliation |
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 |
| 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. |
| Subject |
Biopsy; Bone Marrow; Brain; Diagnosis, Differential; Eye Movements; Female; Follow-Up Studies; Humans; Infant; Lymphohistiocytosis, Hemophagocytic; Magnetic Resonance Imaging; Nystagmus, Pathologic |
| Format |
application/pdf |
| Publication Type |
Journal Article |
| Collection |
Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/ |
| Publisher |
Lippincott, Williams & Wilkins |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah |
| Rights Management |
© North American Neuro-Ophthalmology Society |
| Setname |
ehsl_novel_jno |
| ID |
227553 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s67979sg/227553 |
