Myelinoclastic diffuse sclerosis presenting as a mass lesion in a child with Turner's syndrome

A rare case of myelinoclastic diffuse sclerosis (MDS), occasionally referred to as Schilder's disease, is reported in a child with Turner's syndrome. The child originally presented with a 3-week history of nausea, vomiting and frontal headaches. Magnetic resonance imaging showed a large, contrast-enhancing, right frontal lobe mass which was ultimately resected uneventfully. Complete laboratory investigations and pathological evaluation of the resected specimen verified the case to be MDS. The clinical presentation, laboratory evaluation, imaging characteristics and diagnosis are discussed in this review of the disease. The importance of including demyelinating diseases in the differential diagnosis for newly discovered mass lesions in the pediatric population is underscored by this case.