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Neurofibromatosis Type 1

  • Sergey Gorelyshev
  • Natalia Serova
  • Nadezhda Mazerkina
  • Endzhe Valiakhmetova
Living reference work entry

Abstract

Neurocutaneous syndromes are a group of hereditary disorders with neurologic, ocular, and cutaneous manifestations. It is important for pediatric neurosurgeons to understand these disorders because they account for significant neurologic morbidity. Consensus exists that there are two forms of neurofibromatosis: NF-1 (Classic, Mosaic and Spinal) and NF-2 (Classic, Mosaic and Schwannomatosis). Recently the set of “RASopathies” were included into the family of NF-1. This chapter discribes modern investigations in genetics and molecular biology as well as diagnostic criteria, including laboratory studies and clinical signes and symptoms. Particular emphasis is put on the CNS tumors occurring in neurofibromatosis types 1 with special attention to topography, imaging, surgical treatment, chemotherapy and indications for radiosurgery.

Notes

Acknowledgments

The authors thank Anna Shulgina for assistance in preparing this paper for publication.

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Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  • Sergey Gorelyshev
    • 1
  • Natalia Serova
    • 1
  • Nadezhda Mazerkina
    • 1
  • Endzhe Valiakhmetova
    • 1
  1. 1.Burdenko Neurosurgical InstituteMoscowRussia

Section editors and affiliations

  • Concezio Di Rocco
    • 1
  • Gianpiero Tamburrini
    • 2
  1. 1.Director of Pediatric NeurosurgeryInternational Neuroscience InstituteHannoverGermany
  2. 2.Pediatric Neurosurgery, Institute of NeurosurgeryCatholic University Medical SchoolRomeItaly

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