Biopsy-Supported Tumefactive Demyelination of the Central Nervous System in Children

Abstract

Pediatric tumefactive lesions remains challenging to clinicians in terms of diagnosis and treatment. The authors describe 11 children with biopsy-proven central nervous system tumefactive demyelination. The mean age of onset was 11 years. Clinical and radiological data coupled with biopsy aided in the diagnosis of tumefactive demyelination. Of the 6 cases in which oligoclonal band data were available, only 3 showed oligoclonal band in the cerebrospinal fluid. Due to poor recovery despite treatment with high-dose glucocorticosteroids, intravenous immunoglobulin, and/or plasmapheresis, 6 cases went on to receive cyclophosphamide with marked improvement. Long-term data were available on 9 cases. Eight of 9 cases were started on preventative multiple sclerosis therapy after initial presentation; 1 is pending discussion with family. Five of the 8 cases had clinical relapse during treatment. Seven cases met 2010 McDonald criteria for multiple sclerosis at follow-up, (1 developed secondary progressive multiple sclerosis), and 2 cases remained as clinically isolated syndrome on treatment.

Keywords: brain biopsy; children; cyclophosphamide; magnetic resonance imaging; multiple sclerosis; tumefactive demyelination.