RESUMO
PURPOSE: Neonatal-onset Multisystem Inflammatory Disorder (NOMID) is a systemic syndrome characterized by rash, large joint osteoarthropathies and chronic meningitis. Ocular manifestations include optic disc edema, corneal opacities and uveitis. We report the novel finding of serous retinal detachments (RD) in NOMID. METHODS: Case report. RESULTS: An eight-month-old girl was referred to the ED for work-up of optic disc edema. Physical exam revealed flat fontanelles; macrocephaly and frontal bossing; diffuse urticarial rash; and swollen joints; WBC count and inflammatory markers were elevated. Ophthalmology exam revealed decreased visual acuity, optic disc edema and bilateral serous RD. MRI revealed bilateral enhancement of the ocular choroid and enlargement of the third and fourth ventricles secondary to aqueductal webbing. After infectious testing returned negative, the patient was treated with anakinra, an interleukin-1 receptor antagonist. Three months later, the serous RDs resolved. CONCLUSION: Physicians should consider NOMID in infants presenting with diffuse rash, bilateral disc edema and serous retinal detachments.
Assuntos
Síndromes Periódicas Associadas à Criopirina/complicações , Papiledema/etiologia , Descolamento Retiniano/etiologia , Uveíte/etiologia , Feminino , Humanos , Lactente , Proteína Antagonista do Receptor de Interleucina 1/uso terapêutico , Imageamento por Ressonância Magnética , Papiledema/tratamento farmacológico , Receptores de Interleucina-1/antagonistas & inibidores , Descolamento Retiniano/tratamento farmacológico , Uveíte/tratamento farmacológico , Acuidade VisualRESUMO
PURPOSE: To report a melanocytoma of the optic disk in an adult who had prior photographic documentation that the affected disk was entirely normal. METHODS: Clinical evaluation and fundus photography. RESULTS: An asymptomatic 45-year-old woman was found on routine ocular examination to have a typical melanocytoma in her right optic disk. Fundus photographs made 13 years earlier showed a normal right optic disk with no sign of melanocytoma or other pigmented lesion. CONCLUSIONS: Although optic disk melanocytoma is generally believed to be a congenital lesion, it can apparently develop spontaneously in adulthood.