Please use this identifier to cite or link to this item: https://doi.org/10.1177/0883073811435237
Title: Hemophagocytic lymphohistiocytosis with isolated central nervous system reactivation and optic nerve involvement
Authors: Chong, K.W.
Lee, J.H. 
Choong, C.T.
Med, M.
Chan, D.W.S.
Fortier, M.V.
Chan, M.Y.
Keywords: central nervous system
hemophagocytic lymphohistiocytosis
optic nerve
Issue Date: Oct-2012
Citation: Chong, K.W., Lee, J.H., Choong, C.T., Med, M., Chan, D.W.S., Fortier, M.V., Chan, M.Y. (2012-10). Hemophagocytic lymphohistiocytosis with isolated central nervous system reactivation and optic nerve involvement. Journal of Child Neurology 27 (10) : 1336-1339. ScholarBank@NUS Repository. https://doi.org/10.1177/0883073811435237
Abstract: Hemophagocytic lymphohistiocytosis is a rare childhood disorder characterized by uncontrolled proliferation of benign lymphocytes and histiocytes in multiple organs. Neurological presentations of central nervous system involvement are highly variable. The authors present a case of familial hemophagocytic lymphohistiocytosis in an 8-month-old girl with isolated central nervous system reactivation and optic nerve involvement. She presented with fever and hepatosplenomegaly at 2 months of age. Genetic studies confirmed familial hemophagocytic lymphohistiocytosis. There were no clinical features of central nervous system involvement at presentation. While on maintenance chemotherapy awaiting bone marrow transplant, she presented with new-onset seizures. Magnetic resonance imaging of the brain revealed extensive areas of abnormal signal and a thickened and enhancing left optic nerve. Ocular manifestations of hemophagocytic lymphohistiocytosis have rarely been described. To the authors' knowledge, this is the first case report of magnetic resonance imaging findings of optic nerve involvement in a child with hemophagocytic lymphohistiocytosis. © The Author(s) 2012.
Source Title: Journal of Child Neurology
URI: http://scholarbank.nus.edu.sg/handle/10635/126500
ISSN: 08830738
DOI: 10.1177/0883073811435237
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