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Neurofibromatosis 2

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Textbook of Pediatric Neurosurgery

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Abstract

Several forms of neurofibromatosis are known at present: NF-1 (Classic, Mosaic, and Spinal), NF-2 (Classic, Mosaic, and Schwannomatosis), as well as the set of “RASopathies” (Legius syndrome, Noonan syndrome, Costello syndrome, Cardiofaciocutaneus syndrome, and LEOPARD syndrome).

NF-2 patients typically develop multiple and bilateral schwannoma, meningiomas, and spinal ependymomas, with the great majority of them suffering from bilateral schwannoma involving the superior vestibular branch of the eight cranial nerve. The manifestation of NF-2 in children differs from adults and characterized by either the congenital bilateral VSs or severe prepubertal form with multiple and rapidly progressive central nervous system tumors other-than-VS. Schwannomatosis (SWN) is one of the associated forms of neurofibromatosis and is characterized by the development of multiple intracranial, spinal, or peripheral schwannomas in the absence of bilateral vestibular schwannomas, which is pathognomonic.

Mosaic (segmental) NF-2 is the second form of NF-2 characterized by the tumours localised to one part of the nervous system: unilateral vestibular schwannomas with ipsilateral meningiomas and/or multiple schwannomas in one part of the peripheral nervous system.

These tumors generally progress slowly, and if small and asymptomatic, patients can be followed by serial imaging studies. Surgery is clearly indicated for children with significant brainstem or spinal cord compression or with obstructive hydrocephalus. Radiotherapy may be used in individuals with NF-2 tumors that progress despite surgical treatment or in individuals who are at high risk for operative complications. Radiotherapy remains controversial as there is a definite increased risk of development different malignancies. At present the use of chemotherapy in the treatment of neurofibromatosis type-2 has been less than adequate. The search for gene therapy that will allow the re-control of aberrant or unsuppressed gene appears to be one of the most exciting directions.

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  1. Burdenko Neurosurgical Institute, Moscow, Russia

    Sergey Gorelyshev, Endzhe Valiakhmetova & Igor Pronin

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  1. Sergey Gorelyshev
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  2. Endzhe Valiakhmetova
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  3. Igor Pronin
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Correspondence to Sergey Gorelyshev .

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Editors and Affiliations

  1. Pediatric Neurosurgery, International Neuroscience Institute, Hannover, Germany

    Concezio Di Rocco

  2. Department of Paediatric Neurosurgery, Great Ormond Street Hospital for Children, NHS Trust, London, UK

    Dachling Pang

  3. Division of Neurosurgery, The Hospital for Sick Children, Toronto, ON, Canada

    James T. Rutka

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  1. Director of Pediatric Neurosurgery, International Neuroscience Institute, Hannover, Germany

    Concezio Di Rocco

  2. Pediatric Neurosurgery, Institute of Neurosurgery, Catholic University Medical School, Rome, Italy

    Gianpiero Tamburrini

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Gorelyshev, S., Valiakhmetova, E., Pronin, I. (2020). Neurofibromatosis 2. In: Di Rocco, C., Pang, D., Rutka, J. (eds) Textbook of Pediatric Neurosurgery. Springer, Cham. https://doi.org/10.1007/978-3-319-72168-2_151

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