Open AccessLate‐onset hemophagocytic lymphohistiocytosis with neurological presentation
Author(s) -
Benezech Sarah,
Walzer Thierry,
Charrier Emily,
Heidelberg Damien,
De SaintBasile Geneviève,
Bertrand Yves,
Belot Alexandre
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1135
Subject(s) - hemophagocytic lymphohistiocytosis , medicine , missense mutation , presentation (obstetrics) , pediatrics , disease , intensive care medicine , mutation , gene , pathology , surgery , genetics , biology
Key Clinical Message Missense mutations in genes involved in familial hemophagocytic lymphohistiocytosis can delay the onset of this life‐threatening disease. In children and adults, early recognition of aspecific features as neurological symptoms is crucial as urgent treatment is required.