Abstract
BACKGROUND: De novo tumefactive demyelination (TD) poses a diagnostic challenge, with lower rates of cerebrospinal fluid (CSF) oligoclonal bands and lower female-to-male ratio than typical onset multiple sclerosis (MS). Only about half fulfill the 2017 McDonald diagnostic criteria for MS at presentation. Therefore, our aim was to assess optic nerve involvement by optical coherence tomography (OCT) in patients with TD. Further, whether the presence of abnormalities on OCT would allow additional TD patients to be diagnosed with MS when the optic nerve is added as a fifth topography to the Barkhof criteria or 2017 McDonald criteria. METHODS: Observational retrospective chart review of patients seen at a tertiary referral center from 1/1/1990 to 2/21/2024 with TD. Inclusion criteria were: 1) brain MRI showing an active TD lesion; 2) medical records with at least one available clinical assessment by a neurologist; 3) available Cirrus OCT data to review. Exclusion criteria were: 1) patients with final diagnosis of vasculitis, abscess, CNS malignancies, or MOGAD; 2) presence of confounding ocular disease. RESULTS: OCT was available in 68 patients with TD. The tumefactive attack was the first demyelinating event in 45 (67 %) patients. At presentation, 29/68 (43 %) fulfilled 3 of 4 Barkhof criteria, and 34/68 (50 %) fulfilled the 2017 McDonald criteria for the diagnosis of MS. A clinical history of optic neuritis was present in 9/68 (13 %) patients and OCT was abnormal in 9/9 (100 %) of those patients. Regardless of clinical history, OCT was abnormal in 22/68 (32 %) patients. Therefore, OCT identified abnormalities suggestive of prior optic neuritis in 13/59 (22 %) TD patients without a clinical history of optic neuritis. If the optic nerve, as a firth topography, was assessed by OCT 39/68 (57 %) would fulfill McDonald criteria. CONCLUSIONS: OCT in patients presenting with TD lesions can frequently identify both clinical and subclinical optic neuritis. The addition of the optic nerve as a fifth topography assessed by OCT to fulfill dissemination in space criteria would allow additional TD patients to be diagnosed with MS.