Introduction
Hemophagocytic lymphohistiocytosis (HLH) is a potentially lethal immune
system dysregulation in children and adults. Failure to properly inhibit
the immune response leads to constant and excessive activity of the
cytotoxic T-cells, natural killer (NK) cells, and macrophages.
Inflammatory reactions caused by the intense activity of the cellular
immune system and cytokine storm in tissues lead to multiple organ
failure in this disease. HLH is categorized as primary, which defines as
the presence of a predisposing genetic mutation in the immune system,
and reactive to an infectious, inflammatory, or malignant trigger. The
diagnosis is challenging as it has no clinical or laboratory
pathognomonic features. Fever, organomegaly, liver dysfunction,
cytopenias, coagulopathy, hemophagocytosis, and neurologic dysfunction
are common manifestations of HLH.
Ocular involvement is relatively rare in HLH. Unilateral panuveitis,
Purtscher retinopathy, trabecular meshwork involvement, and choroidal
infiltration with secondary extension to the retina and optic nerve head
(ONH) have been reported previously.
This report aims to introduce a child with HLH and bilateral ONH
infiltration.