Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

E. S. Makashova; Макашова Е. С.; K. O. Karandasheva; Карандашева К. О.; S. V. Zolotova; Золотова С. В.; M. A. Ginzberg; Гинзберг М. А.; M. Yu. Dorofeeva; Дорофеева М. Ю.; M. V. Galkin; Галкин М. В.; A. V. Golanov; Голанов А. В.

doi:10.17650/2222-8721-2022-12-1-39-48

Neurofibromatosis: analysis of clinical cases and new diagnostic criteria

Authors: Makashova E.S.¹^,2, Karandasheva K.O.³, Zolotova S.V.¹, Ginzberg M.A.⁴, Dorofeeva M.Y.⁵, Galkin M.V.¹, Golanov A.V.¹
Affiliations:
1. National Medical Research Center for Neurosurgery
2. Loginov Moscow Clinical Scientific Center
3. Research Centre for Medical Genetics
4. Research Center of Neurology
5. Research Clinical Pediatric Institute of Pirogov Russian National Research Medical University
Issue: Vol 12, No 1 (2022)
Pages: 39-48
Section: ORIGINAL REPORTS
Published: 14.02.2022
URL: https://nmb.abvpress.ru/jour/article/view/475
DOI: https://doi.org/10.17650/2222-8721-2022-12-1-39-48
ID: 475

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Abstract

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.