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

Late-onset hemophagocytic lymphohistiocytosis with neurological presentation.

Author information

1
Department of Pediatrics Hospices Civils de Lyon Lyon France.
2
Institut National de la Santé et de la Recherche Médicale U1111 Université de Lyon 1 Lyon France.
3
Department of Radiology Hospices Civils de Lyon Lyon France.
4
Institut National de la Santé et de la Recherche Médicale U768 CHU Paris - Hôpital Necker-Enfants Malades Paris France.
5
Hospices Civils de LyonInstitut d'Hématologie et Oncologie Pédiatrique Lyon France.
6
Department of Rheumatology Hospices Civils de Lyon Lyon France.

Abstract

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

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