Hemophagocytic syndrome with atypical presentation in an adolescent. (11th September 2013)

• Record Type: Journal Article
• Authors: Valente Pinto, Marta; Esteves, Isabel; Bryceson, Yenan; Ferrão, Anabela
• Is Part Of: BMJ case reports. Volume 2013
• Publication Date: 2013-09-11
• Subjects: Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2013-200929
• Languages: English
• ISSNs: 1757-790X

Abstract

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.