TY - JOUR
T1 - Downbeat nystagmus secondary to familial hemophagocytic lymphohistiocytosis
AU - Cai, Cindy X.
AU - Siringo, Frank S.
AU - Odel, Jeffrey G.
AU - Lignelli-Dipple, Angela
AU - Lanzman, Bryan A.
AU - Gindin, Tatyana
AU - Filipovich, Alexandra H.
PY - 2014/3
Y1 - 2014/3
N2 - 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.
AB - 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.
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U2 - 10.1097/WNO.0000000000000064
DO - 10.1097/WNO.0000000000000064
M3 - Article
C2 - 24149285
AN - SCOPUS:84896701576
SN - 1070-8022
VL - 34
SP - 57
EP - 60
JO - Journal of Neuro-Ophthalmology
JF - Journal of Neuro-Ophthalmology
IS - 1
ER -