Late-onset hemophagocytic lymphohistiocytosis with neurological presentation

Clin Case Rep. 2017 Sep 12;5(11):1743-1749. doi: 10.1002/ccr3.1135. eCollection 2017 Nov.


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.

Keywords: Hemophagocytic lymphohistiocytosis; late‐onset; neurology; perforin.

Publication types

  • Case Reports