z-logo
open-access-imgOpen Access
Neurofibromatosis: analysis of clinical cases and new diagnostic criteria
Author(s) -
Elizaveta Makashova,
К. О. Карандашева,
S V Zolotova,
М. А. Гинзберг,
M. Yu. Dorofeeva,
Mikhail Galkin,
Andrey Golanov
Publication year - 2022
Publication title -
nervno-myšečnye bolezni
Language(s) - English
Resource type - Journals
eISSN - 2413-0443
pISSN - 2222-8721
DOI - 10.17650/2222-8721-2022-12-1-39-48
Subject(s) - neurofibromatosis , medicine , neurofibromatoses , clinical diagnosis , pediatrics , pathology
Neurofibromatoses are a group of genetic disorders with predisposing for central and peripheral nervous system tumor development. The group includes three entities: neurofibromatosis type I, neurofibromatosis type II and schwannomatosis, which are characterized by gradual phenotype development and have a partially overlapping spectrum of manifestations, which complicates diagnosis establishing, especially at the stage of clinical onset. At the same time, the emergence of new pathogenetic therapy and the high risk of transmission to descendants actualize the necessity of early diagnosis. DNA tests allow us to reliably confirm the presumed diagnosis. This article presents a review of neurofibromatoses, their clinical features and courses, modern diagnostic criteria and indications for DNA tests.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.
Having issues? You can contact us here