{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:40:06Z","timestamp":1756305606680,"version":"3.44.0"},"reference-count":16,"publisher":"BMJ","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMJ Case Reports"],"abstract":"<jats:p>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\u2005months after diagnosis.<\/jats:p>","DOI":"10.1136\/bcr-2013-200929","type":"journal-article","created":{"date-parts":[[2013,9,11]],"date-time":"2013-09-11T09:37:11Z","timestamp":1378892231000},"page":"bcr2013200929","source":"Crossref","is-referenced-by-count":2,"title":["Hemophagocytic syndrome with atypical presentation in an adolescent"],"prefix":"10.1136","volume":"2013","author":[{"given":"Marta","family":"Valente Pinto","sequence":"first","affiliation":[{"name":"Centro Hospitalar Lisboa Norte, Hospital Santa Maria, Lisboa, Portugal"},{"name":"Department of Pediatrics, Lisbon Academic Medical Center, Lisboa, Portugal"}]},{"given":"Isabel","family":"Esteves","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Lisbon Academic Medical Center, Lisboa, Portugal"},{"name":"Paediatric Infecciology Unit, Immunodeficiencies Center, Lisboa, Portugal"}]},{"given":"Yenan","family":"Bryceson","sequence":"additional","affiliation":[{"name":"Center for Infectious Medicine, Karolinska Institutet, Stockholm, Sweden"}]},{"given":"Anabela","family":"Ferr\u00e3o","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Lisboa Norte, Hospital Santa Maria, Lisboa, Portugal"},{"name":"Department of Pediatrics, Lisbon Academic Medical Center, Lisboa, Portugal"},{"name":"Paediatric Hematology Unit, Lisboa, Portugal"}]}],"member":"239","published-online":{"date-parts":[[2013,9,11]]},"reference":[{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.1","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1097\/MOP.0b013e32834ec9c1","article-title":"Hemophagocytic limphohistiocytosis updates and evolving concepts","volume":"2013","author":"Risma","year":"2012","journal-title":"Curr Opin Pediatr"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.2","first-page":"142","article-title":"Pediatric hemophagocytic syndromes: a diagnostic and therapeutic challenge","volume":"2013","author":"Jabado","year":"2005","journal-title":"Allergy Asthma Clin Immunol"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.3","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1002\/pbc.21039","article-title":"HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis","volume":"2013","author":"Henter","year":"2007","journal-title":"Pediatr Blood Cancer"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.4","doi-asserted-by":"crossref","first-page":"2080","DOI":"10.3324\/haematol.2010.029389","article-title":"Atypical familial hemophagocytic lymphohistiocytosis due to mutation in UNCC13D and STXBP2 overlaps with primary immunodeficiency disease","volume":"2013","author":"Rohr","year":"2010","journal-title":"Hematologica"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.5","doi-asserted-by":"crossref","unstructured":"Janka G zur Stadt U . Familial and acquired hemophagocytic lymphohystiocytosis. Hematology Am Soc Hematol Educ Program 2005:82\u20138.","DOI":"10.1182\/asheducation-2005.1.82"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.6","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1182\/blood-2012-07-442558","article-title":"Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production","volume":"2013","author":"Chiang","year":"2013","journal-title":"Blood"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.7","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1182\/asheducation-2011.1.178","article-title":"Approach to hemophagocytic syndromes. Hematology","volume":"2013","author":"Weitzman","year":"2011","journal-title":"Am Soc Hematol Educat Program"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.8","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1100\/tsw.2011.62","article-title":"Advances in hemophagocytic lymphohistiocytosis: pathogenesis, early diagnosis\/differential diagnosis and treatment","volume":"2013","author":"Tang","year":"2011","journal-title":"ScientificWorldJournal"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.9","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1186\/ar3843","article-title":"Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis","volume":"2013","author":"Bode","year":"2012","journal-title":"Arthritis Res Ther"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.10","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1097\/BOR.0b013e32834dd37e","article-title":"Not all hemophagocytes are created equally: appreciating the heterogeneity of the hemaphogocytic syndromes","volume":"2013","author":"Canna","year":"2012","journal-title":"Curr opin Rheumatol"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.11","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1111\/j.1651-2227.1991.tb11878.x","article-title":"Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis","volume":"2013","author":"Henter","year":"1991","journal-title":"Acta Paediatr Scand"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.12","doi-asserted-by":"crossref","first-page":"538","DOI":"10.3324\/haematol.2009.019562","article-title":"Molecular basis of familial lymphohistiocytosis","volume":"2013","author":"Cetica","year":"2010","journal-title":"Haematologica"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.13","doi-asserted-by":"crossref","first-page":"4610","DOI":"10.1182\/blood-2003-10-3551","article-title":"Atypical features of familial hemophagocytic lymphohistiocytosis","volume":"2013","author":"Busiello","year":"2004","journal-title":"Blood"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.14","doi-asserted-by":"crossref","first-page":"4041","DOI":"10.1182\/blood-2011-03-278127","article-title":"How do I treat hemophagocytic lymphohistiocytosis","volume":"2013","author":"Jordan","year":"2011","journal-title":"Blood"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.15","doi-asserted-by":"crossref","first-page":"e743","DOI":"10.1542\/peds.2005-1789","article-title":"Hematopoietic stem cell transplantation in hemophagocytic Lymphohistiocytosis\u2014a single center report of 48 patients","volume":"2013","author":"Ouach\u00e9e-Chardin","year":"2006","journal-title":"Pediatrics"},{"key":"2025082707245332000_2013.sep11_1.bcr2013200929.16","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1111\/j.1365-2141.2011.08785.x","article-title":"Reduced intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward","volume":"2013","author":"Marsh","year":"2011","journal-title":"Br J Haematol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2013-200929","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:24:58Z","timestamp":1756304698000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2013-200929"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,9,11]]},"references-count":16,"alternative-id":["10.1136\/bcr-2013-200929"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2013-200929","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2013,9,11]]}}}