title: Hemophagocytic syndrome with atypical presentation in an adolescent.
abstract: A 14-year-old adolescent presented with a prolonged fever, abnormal liver function, anaemia, thrombocytopaenia, but a good general status. Diagnosis of hemophagocytic lymphohistiocytosis (HLH) was suspected, in spite of the initial indolent course. Secondary causes were excluded, but no specific mutation indicative of primary HLH was found. The patient started with specific therapy, but progressed with reactivations and later with persistently active disease. Haematopoietic stem cell transplantation was not successful and the adolescent died 7 months after diagnosis.
authors.affiliation: Centro Hospitalar Lisboa Norte, Hospital Santa Maria, Lisboa, Portugal.
authors.forename: Marta Valente
authors.initials: MV
authors.lastname: Pinto
authors.forename: Isabel
authors.initials: I
authors.lastname: Esteves
authors.forename: Yenan
authors.initials: Y
authors.lastname: Bryceson
authors.forename: Anabela
authors.initials: A
authors.lastname: Ferrão
mesh_terms: D000293:Adolescent; D000890:Anti-Infective Agents / Q000627:therapeutic use; D017809:Fatal Outcome; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000628:therapy
chemical_list: D000890:Anti-Infective Agents; D007166:Immunosuppressive Agents
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