M Adelita Vizcaino1,2, Charles G Eberhart1,3, Fausto J Rodriguez1,3. 1. Division of Neuropathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. 2. Department of Cellular and Tissue Biology, Faculty of Medicine, UNAM, Mexico City, Mexico. 3. Sydney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Abstract
BACKGROUND/AIMS: Hemophagocytic lymphohistiocytosis (HLH) is an infrequent inflammatory multisystemic syndrome. Only rare cases with ophthalmic involvement describing their pathologic features have been previously reported. METHODS: We report 3 cases of adult-onset HLH with bilateral ocular involvement and describe their clinicopathologic features. RESULTS: Three adult males - 2 with a history of viral infection - developed persistent fever, fatigue, bone marrow abnormalities, and irreversible multiorgan failure. Visual impairment was also documented in 2 cases. Complete autopsies were performed. Ophthalmic pathology demonstrated a bilateral histiocytic infiltrate with scant lymphocytes affecting the uvea. Focal extension to the retina, optic nerve, and trabecular meshwork were also identified, as well as hemophagocytosis in 1 case. Macrophages showed strong immunoreactivity for CD163 antibody and lacked BRAF p.V600E mutant protein. CONCLUSION: HLH is an unusual disorder associated with several systemic conditions. Histologic features in the eye are poorly documented, with prior reports restricted to children. Our 3 adult cases are reported using updated criteria and, despite the difference in age, show changes similar to those observed in the pediatric population.
BACKGROUND/AIMS: Hemophagocytic lymphohistiocytosis (HLH) is an infrequent inflammatory multisystemic syndrome. Only rare cases with ophthalmic involvement describing their pathologic features have been previously reported. METHODS: We report 3 cases of adult-onset HLH with bilateral ocular involvement and describe their clinicopathologic features. RESULTS: Three adult males - 2 with a history of viral infection - developed persistent fever, fatigue, bone marrow abnormalities, and irreversible multiorgan failure. Visual impairment was also documented in 2 cases. Complete autopsies were performed. Ophthalmic pathology demonstrated a bilateral histiocytic infiltrate with scant lymphocytes affecting the uvea. Focal extension to the retina, optic nerve, and trabecular meshwork were also identified, as well as hemophagocytosis in 1 case. Macrophages showed strong immunoreactivity for CD163 antibody and lacked BRAF p.V600E mutant protein. CONCLUSION: HLH is an unusual disorder associated with several systemic conditions. Histologic features in the eye are poorly documented, with prior reports restricted to children. Our 3 adult cases are reported using updated criteria and, despite the difference in age, show changes similar to those observed in the pediatric population.
Authors: Cindy X Cai; Frank S Siringo; Jeffrey G Odel; Angela Lignelli-Dipple; Bryan A Lanzman; Tatyana Gindin; Alexandra H Filipovich Journal: J Neuroophthalmol Date: 2014-03 Impact factor: 3.042
Authors: Matthew R Woodward; Margaret S Ferris; Guillermo Rivell; Laura Malone; Tara M Dutta; Haroon Ahmad; Nicholas A Morris Journal: Neurohospitalist Date: 2021-09-09