Unusual Ocular Involvement in Acute Disseminated Histiocytosis X

A white infant was born with acute disseminated histiocytosis X. Clinical ocular examination at birth revealed thickening of the irides with a nodular lesion of the right iris and a focal linear discoloration of the left iris. The pupils showed minimal dilatation following instillation of mydriatics. The child died at 7 days of age; histopathologic examination revealed massive infiltration of histiocytes in the iris, choroid, and meninges of the optic nerve. This pattern of ocular involvement is rare in acute disseminated histiocytosis X. There was involvement by similar cells of the skin, visceral organs, and brain. This association of anterior uveal involvement with severe though clinically unrecognized visceral involvement has been described previously, but not emphasized. Recognition of the ocular involvement may be helpful in the diagnosis, and contribute to the early institution of therapy.