title: A neurologic presentation of familial hemophagocytic lymphohistiocytosis which mimicked septic emboli to the brain.
abstract: Familial hemophagocytic lymphohistiocytosis is an inherited deficiency of natural killer cell function and excessive cytokine activity, which predominantly presents in early childhood. The initial symptoms of familial hemophagocytic lymphohistiocytosis are often nonspecific but may be predominantly neurologic. The case presented here describes an 18-month-old boy who initially presented with fever, encephalopathy, and hemiparesis. He had innumerable brain lesions visualized on magnetic resonance imaging scans. An infectious etiology was excluded, and brain, liver, and bone marrow biopsies were nonspecific but consistent with hemophagocytic lymphohistiocytosis. Cells were sent for flow cytometry perforin analysis, which demonstrated defective natural killer cell function. A diagnosis of familial hemophagocytic lymphohistiocytosis was confirmed by mutation analysis and decreased expression of the perforin gene, in the patient and immediate family members. These results showed the patient to be a compound heterozygote for perforin mutations. His case illustrates the potential for a fulminant neurological presentation of familial hemophagocytic lymphohistiocytosis with widespread lesions in the brain.
authors: Department of Neurology and Pediatric Neurology, Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD 21287, USA. lturtzo@jhmi.edu
authors: L Christine
authors: LC
authors: Turtzo
authors: Doris D M
authors: DD
authors: Lin
authors: Helge
authors: H
authors: Hartung
authors: Peter B
authors: PB
authors: Barker
authors: Robert
authors: R
authors: Arceci
authors: Kaleb
authors: K
authors: Yohay
mesh_terms: D016026:Bone Marrow Transplantation; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D007167:Immunotherapy; D007223:Infant; D020766:Intracranial Embolism / Q000382:microbiology / Q000473:pathology*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D008279:Magnetic Resonance Imaging; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics / Q000378:metabolism*; D054353:Perforin; D020641:Polymorphism, Single Nucleotide; D052899:Pore Forming Cytotoxic Proteins / Q000235:genetics / Q000378:metabolism*; D018805:Sepsis / Q000473:pathology; D016896:Treatment Outcome
chemical_list: D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; D054353:Perforin