UCSF

Objectives

To characterize clinical and imaging features in patients with pathologically confirmed demyelinating lesions.

Methods

In this retrospective chart review, we analyzed clinical-radiological-pathological correlations in patients >15years old who underwent brain biopsy at our institution between 2000 and 2015 and had inflammatory demyelination on neuropathology.

Results

Of 31 patients, the mean age was 42years (range 16 to 69years) and 55% were female. All but one of the biopsied lesions were considered tumefactive demyelinating lesions (TDLs) by imaging criteria, measuring >2cm on contrast-enhanced brain MRI. On clinical follow-up, the final diagnosis was a CNS malignancy in 2 patients (6.5%). In patients without malignant tumor, the TDL was solitary in 12 (41%) and multifocal in 17 (59%), with contrast enhancement in all but one case, primarily in an incomplete rim enhancement pattern (75.9%). Of 16 patients with at least 12months of clinical follow-up, 7 (43.8%) had a clinical relapse. Of patients without a prior neurologic history, relapse occurred in 2/7 (29%) in solitary TDL and 2/6 (33%) in multifocal lesions at initial presentation. Recurrent TDLs occurred in 3 patients, all with initially solitary TDLs. Stratifying by CSF analysis, 4 of 6 patients (67%) with either an elevated IgG Index or >2 oligoclonal bands suffered a clinical relapse compared to 2/8 (25%) with non-inflammatory CSF.

Conclusions

Pathologically confirmed TDLs call for careful clinical correlation, clinical follow-up and imaging surveillance. Although sometimes clinically monophasic, tumefactive demyelinating lesions carried nearly a 45% risk of near-term clinical relapse in our study, even when presenting initially as a solitary mass lesion.