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M. Engelbert, M. F. Chiang, J. T. Flynn; Is Eye Involvement in Hemophagocytic Lymphohistiocytosis (HLH) an Ominous Prognostic Sign? Presentation of a Novel Funduscopic Picture and Review of the Literature. Invest. Ophthalmol. Vis. Sci. 2007;48(13):5168.
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(1) To present the case of an infant with hemophagocytic lymphohistiocytosis (HLH) and unique ocular findings and (2) to review the literature on ocular involvement in hemophagocytic lymphohistiocytosis.
Case report and review of literature.
(1) A one month-old female, previously in good health, was found to have an abdominal mass by her parents. Workup revealed hepatosplenomegaly, as well as anemia and thrombocytopenia. Computed tomography of the head demonstrated intracranial hemorrhages. Funduscopic examination revealed white dots predominantly in the posterior pole in both eyes at the level of the deep retina and choriocapillaris, some of which were surrounded by a fine ring of pigment. Extensive workup for infectious etiologies was negative, but a bone marrow biopsy was positive for histiocytes with erythrophagocytosis. The serum concentration of soluble IL-2 receptor was elevated. Her mother had a low NK cell count, and her father had no NK cell activity. These findings established the diagnosis of HLH. The child died at the age of five months. (2) On review, there are only 8 reported cases of HLH that make reference to ocular findings.While only 29% of all cases show central nervous system (CNS) involvement, all reported cases with ocular findings were notable for CNS involvement. Most (6 of the 8 cases) demonstrated disc edema. Funduscopic examination in the reported cases, however, either did not reveal lesions similar to the ones reported in our case, or was not available. However, only one of the 8 cases survived, and choroidal histiocytic infiltration was observed in 4 out of the 7 cases on autopsy.
This case of HLH presented with a novel funduscopic picture of white dots predominantly in the posterior pole in a bilateral distribution. Our case and the literature both suggest that affected children with eye involvement are also likely to suffer from CNS and most eventually succumb to their disease. Thus, ocular involvement may be an ominous prognostic sign in HLH. This hypothesis is the subject of an ongoing prospective study at our institution.
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