Etiology and Clinical Features of Optic Neuritis in Two Children: A Case Report

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Background: Optic neuritis (ON) is inflammation of the optic nerve that can occur in both adults and children. This disease is marked by a heterogeneous presentation in children and has clinical and epidemiologic characteristics that differ greatly from those found in adults. The purpose of this report is to illustrate the clinical features of ON that occur during childhood and to highlight the differences of ON in children versus adults. In doing so, we aim to add to the sparse current literature on this topic and help prevent the future misdiagnosis of ON in pediatric patients.

Case Presentations: An 11-year-old female presented with bilateral decreased visual acuity and significant ocular pain. The ophthalmic presentation and diagnostic workup led to the diagnosis of acute disseminated encephalomyelitis with ON. A second patient, a 12-year-old male, presented with decreased visual acuity and bilateral papilledema. Alongside a diagnosis of bilateral ON, a muscle biopsy confirmed mitochondrial cytopathy as the etiology of his presenting symptoms.

Conclusions: ON in children may be related to specific infections, autoimmune disorders, diseases of adjacent anatomical structures, or demyelinating disorders. Attacks may be acute or subacute with signs of reduced visual acuity, abnormal pupillary response, loss of color vision, impaired contrast sensitivity, and decreased peripheral vision. Awareness of this complex disease allows the clinician to initiate specific treatment and follow-up care that may reduce subsequent morbidity and the rate of recurrence.