P 973. Case Report of a 13-Year-Old Boy with Multiple Sclerosis and Obesity Caused by a MC4-Receptor Mutation

Background: Multiple sclerosis (MS) is a chronic inflammatory, demyelinating disease of the central nervous system. Childhood obesity is known to be associated with chronic low-grade inflammation and the promotion of MS. Mutations in the melanocortin-4 receptor gene MC4R are the most common cause of monogenic hereditary obesity. Its prevalence in the general population is ∼1: 2,000. The MC4R defect is characterized by severe obesity, early-onset hyperphagia, and severe hyperinsulinemia.

Case Report: We report a 13-year-old male patient diagnosed with MS and severe obesity of 114 kg (BMI 38 kg/m²) and MC4R mutation. The main symptom of MS manifestation was pronounced right optic neuritis with subtotal vision loss. Cranial magnetic resonance imaging (MRI) showed both florid and nonflorid regions supra- and infratentorially; therefore, MRI-MS criteria of temporal and spatial dissemination according to the McDonald criteria were fulfilled. A mild cerebrospinal fluid pleocytosis and positive oligoclonal bands completed the picture. Incidentally, there was an increased opening pressure in lumbar puncture in the sense of a pseudotumor cerebri without a clinical correlate. After steroid pulse and subsequent oral steroid therapy, optic neuritis was finally completely regressive. Therapy with betaferon did not lead to disease relapse over the past 6 months.

Summary: The association of obesity and the occurrence of MS are well known. For the first time, we can report on a patient with a new onset of MS in genetically determined obesity. On reason of risk reduction and the significantly milder course of MS after weight reduction, this is also to strive for genetically determined forms of obesity with MS.