Combination of multiple sclerosis and neurofibromatosis type I, remained undiagnosed from early childhood
Multiple sclerosis (MS) is a chronic inflammatory disease of infectious and allergic etiology, usually manifesting in young people by progressive symptoms of CNS damage due to demyelination of nerve fibers. Neurofibromatosis type 1 (NF-1) is a common monogenic disorder from the group of phacomatosis, inherited in an autosomal dominant pattern (oMiM: 162200). None clinical manifestations of NF-1 are associated with demyelination, while in the MS pathogenesis, loss of myelin by the axons of the central nervous system is a key element. Combination of these two diseases in one patient is extremely rare. In this article, we report a case of primary-progressive MS developed in a patient with NF-1, which had remained undiagnosed for many years. We analyzed possible mechanisms underlying pathogenetic relationship between these diseases and covered the main problems associated with the diagnosis of non-overt NF-1 in children.