Population-based incidence and clinico-radiological characteristics of tumefactive demyelination in Olmsted County, Minnesota, United States.

BACKGROUND AND PURPOSE

Tumefactive demyelination (TD) presents with large inflammatory lesions mimicking tumors or other space-occupying lesions. Limited epidemiological, clinical and radiological data exist for TD. We aimed to report the incidence rate, and clinical and radiological features of TD in Olmsted County, Minnesota.

METHODS

We retrospectively reviewed patients with central nervous system inflammatory demyelination-related diagnostic codes (January 1, 1998 to December 31, 2018) in the Rochester Epidemiology Project database, and adjusted incidence rates by age and sex to the 2010 US total population. We used the Expanded Disability Status Scale (EDSS) to assess outcomes (index attack and last follow-up).

RESULTS

Of 792 multiple sclerosis (MS) patients, 15 (eight males, seven females) had tumefactive MS, representing 1.9% of the MS population. The median (range) age at attack onset was 34.2 (2-61) years. Tumefactive lesion was the first clinical MS attack in 8/16 patients. Cerebrospinal fluid oligoclonal bands (OCBs) were present in 8/12 patients and 11/16 patients met the Barkhof criteria for dissemination in space. Most patients remained fully ambulatory (EDSS score ≤4 in 13/16 patients [81%]) after a median (range) follow-up duration of 10.5 (1-20.5) years. Age-adjusted annual incidence rates were 0.46/100,000 (95% confidence interval [CI] 0.12-0.81) for female patients, 0.66/100,000 (95% CI 0.23-1.02) for male patients, and 0.56/100,000 [95% CI 0.28-0.83] overall. When age- and sex-adjusted to the 2010 US total population, the overall annual incidence rate was 0.57 (95% CI 0.28-0.84). Despite aggressive clinical presentation at disease onset, most patients remained fully ambulatory (EDSS score ≤4 in 13/16 patients) with a relapsing-remitting course.

CONCLUSIONS

Although incidence is rare, TD should be suspected in patients presenting with subacutely progressive neurological deficits associated with magnetic resonance imaging findings of ring enhancement, apparent diffusion coefficient restriction, and OCB on spinal fluid analysis.