title: Hemophagocytic lymphohistiocytosis can mimic the superior vena cava syndrome.
abstract: We report a case of a 3-year-old boy with hemophagocytic lymphohistiocytosis (HLH), with enlarged cervical lymph nodes causing internal jugular vein compression, who initially presented a condition similar to the superior vena cava syndrome. Laboratory data along with neck node and bone marrow biopsies confirmed the HLH. Genetic analysis revealed the patient to be compound heterozygous for 2 variations of the perforin gene, c.1620 A>G and c.562C>G. This case featuring a rare initial manifestation of HLH that has not been previously reported, points to the necessity of considering this disease when symptoms similar to superior vena cava syndrome are encountered.
authors.affiliation: Center for Pediatric Oncology, National Cancer Center, Goyang, Korea.
authors.forename: Meerim
authors.initials: M
authors.lastname: Park
authors.forename: Jae-Wook
authors.initials: JW
authors.lastname: Choi
authors.forename: Hyeon Jin
authors.initials: HJ
authors.lastname: Park
authors.forename: Hee Jin
authors.initials: HJ
authors.lastname: Kim
authors.forename: Meong
authors.initials: M
authors.lastname: Hi Son
authors.forename: Jong-Hyung
authors.initials: JH
authors.lastname: Yoon
authors.forename: Su-Jin
authors.initials: SJ
authors.lastname: Kim
authors.forename: Won Seo
authors.initials: WS
authors.lastname: Park
authors.forename: Byung-Kiu
authors.initials: BK
authors.lastname: Park
mesh_terms: D002675:Child, Preschool; D003937:Diagnosis, Differential; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D007601:Jugular Veins / Q000473:pathology; D008198:Lymph Nodes / Q000473:pathology; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D054353:Perforin / Q000235:genetics; D013479:Superior Vena Cava Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D054353:Perforin