Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disorder of immune regulation that leads to a hyperinflammatory syndrome responsible for fever, hepatosplenomegaly, cytopenia, and coagulopathy. Although presentation usually occurs in early infancy, antenatal presentation is extremely rare. To our knowledge, we are first to report genetically confirmed FHL in 2 consecutive siblings who presented with hydrops fetalis that led to spontaneous intrauterine death at 38 and 30 weeks of gestation. Because the diagnosis of FHL has important implications for genetic counseling, we suggest that FHL be considered in the differential diagnosis of nonimmune hydrops fetalis.
Hemophagocytic Lymphohistiocytosis With Munc13-4 Mutation: A Cause of Recurrent Fatal Hydrops Fetalis
Dr Bechara's current affiliation is Department of Pediatrics, Saint George Hospital-University Medical Center, Beirut, Lebanon.
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
- Views Icon Views
- Share Icon Share
- Search Site
Elie Bechara, Frédérique Dijoud, Geneviève de Saint Basile, Yves Bertrand, Corinne Pondarré; Hemophagocytic Lymphohistiocytosis With Munc13-4 Mutation: A Cause of Recurrent Fatal Hydrops Fetalis. Pediatrics July 2011; 128 (1): e251–e254. 10.1542/peds.2010-0764
Download citation file: