Evaluation of plexiform neurofibroma in neurofibromatosis type 1 in 18 family members of 3 generations: ultrasonography and magnetic resonance imaging a diagnostic supplement

Abstract

Abstract Plexiform neurofibroma in neurofibromatosis type 1, an autosomal-dominant genetic disorder, is characterized by a combination of interlacing components or a network. The prominent enlargement of a nerve with tumor nodules results in the gross pathologic appearance termed "bag of worms." Plexiform neurofibroma was found in two of seven family members with neurofibromatosis type 1 in three generations. Ultrasonography/color doppler and magnetic resonance imaging, in addition to microscopic pathology, were used as diagnostic tools, and their indications for future use in the diagnosis of plexiform neurofibroma are highlighted.