title: Hemophagocytic lymphohistiocytosis with isolated central nervous system reactivation and optic nerve involvement.
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.
authors.affiliation: Department of Pediatric Medicine, KK Women's & Children's Hospital, 100 Bukit Timah Road, Singapore. chongkokwee@gmail.com
authors.forename: Kok Wee
authors.initials: KW
authors.lastname: Chong
authors.forename: Jan Hau
authors.initials: JH
authors.lastname: Lee
authors.forename: Chew Thye
authors.initials: CT
authors.lastname: Choong
authors.forename: M Med
authors.initials: MM
authors.lastname: Paeds
authors.forename: Derrick Wei Shih
authors.initials: DW
authors.lastname: Chan
authors.forename: Marielle V
authors.initials: MV
authors.lastname: Fortier
authors.forename: Mei Yoke
authors.initials: MY
authors.lastname: Chan
mesh_terms: D002490:Central Nervous System / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000188:drug therapy / Q000473:pathology* / Q000601:surgery; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics; D009900:Optic Nerve / Q000473:pathology*; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics; D033581:Stem Cell Transplantation
chemical_list: C510468:PRF1 protein, human; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin