Article
Familial hemophagocytic lymphohistiocytosis in a pediatric patient diagnosed by brain magnetic resonance imaging.
Neuropediatrics - 1 Oct 2011
van Egmond M E, Vermeulen R J, Peeters-Scholte C M P C D, Augoustides-Savvopoulou P, Abbink F, Boelens J J, van der Knaap M S
Abstract excerpt
Familial hemophagocytic lymphohistiocytosis (fHLH) is an autosomal recessive disorder characterized by proliferation and infiltration of several organs by activated lymphocytes and macrophages. Without allogeneic stem cell transplantation, fHLH is fatal. We describe a previously healthy 11-month-old boy with a rapidly progressive encephalopathy. An older brother died at 8 months following a subacute...
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