Rare cases of ocular findings have been reported in infants with hemophagocytic lymphohistiocytosis (HLH). We report a case of ischemic retinal vascular disease in an infant with HLH.
A baby boy was delivered at 34 weeks (weighing 2020 g) for decreased fetal movement after possible exposure to a viral illness. At day 4 of life, he was transferred to a tertiary care center for anemia, thrombocytopenia, maculopapular skin lesions, and liver dysfunction. He fulfilled 7 of 8 diagnostic criteria for HLH with fever, splenomegaly, cytopenia, hypertriglyceridemia, elevated serum ferritin level, elevated serum soluble IL-2R level, and a bone marrow biopsy specimen demonstrating hemophagocytosis.1 A punch biopsy specimen of a skin lesion showed a dense histiocytic infiltrate, which stained positively for CD68 glycoprotein. The results of an extensive workup were negative for any potential infectious triggers. Molecular genetics confirmed the presence of a mutation in PRF1, indicating a significant likelihood of the familial form of HLH.1
Finn AP, Roehrs P, Grace SF, Vajzovic L. Ischemic Retinal Vascular Disease in an Infant With Hemophagocytic Lymphohistiocytosis. JAMA Ophthalmol. 2017;135(11):1277–1279. doi:10.1001/jamaophthalmol.2017.3258
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