Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The includes three entities: neurofibromatosis type I, II schwannomatosis, which characterized by gradual phenotype development have partially overlapping spectrum manifestations, complicates diagnosis establishing, especially at the stage clinical onset. At same time, emergence new pathogenetic therapy high risk transmission to descendants actualize necessity early diagnosis. DNA tests allow us reliably confirm presumed This article presents review neurofibromatoses, their features courses, modern diagnostic criteria indications tests.