Background:
Multiple sclerosis (MS) is a demyelinating disease of the central nervous system, rare during childhood. MS variations, like tumefactive MS and Balo concentric sclerosis, constitute puzzling to treat diagnostic dilemmas for pediatric patients. Differential diagnosis, mainly from brain tumors, is an absolute necessity. In addition, apart from treating acute attacks, immunomodulatory alternatives are limited.
Case:
We present a 12.5-year-old boy diagnosed, 5 years ago, with tumefactive relapsing-remitting MS, with severe recurrent clinical attacks. Definite diagnosis of demyelination was achieved via combined brain imaging including magnetic resonance (MR) imaging, MR spectroscopy and computed tomography, avoiding brain biopsy. Acute attacks showed satisfactory response to aggressive treatment choices, like plasmapheresis and cyclophosphamide, but age-appropriate immunomodulating treatment was available, only 2 years later. Finally, after a last radiological relapse, when he was 10 years old, fingolimod was initiated. He has been clinically and radiologically stable since, presenting an excellent treatment tolerance.