Neurofibromatosis Type 2 Involving the Brain and Spinal Cord
https://doi.org/10.20862/0042-4676-2021-102-2-98-108
Abstract
Neurofibromatosis type 2 is a rare genetic disease that occurs with a frequency of approximately 1 in 50,000 newborns and is characterized by benign tumors, mainly bilateral schwannomas of the VIII cranial nerve. It is inherited by an autosomal dominant type without sex. Clinical symptoms are associated with damage to the VIII pair of cranial nerves, skin manifestations are less common than with neurofibromatosis type 1. The tumor can be one-sided and can be combined with neurofibromas, meningiomas (intracranial and spinal), schwannomas of other cranial nerves, astrocytomas and ependymomas of the spinal cord. In detecting tumors and making a primary diagnosis, the leading role is played by instrumental diagnostic methods: magnetic resonance imaging (MRI) and computed tomography (CT). The final diagnosis is made after genetic analysis. The article presents the possibilities of CT and MRI in imaging and diagnosis of type neurofibromatosis type 2.
About the Authors
O. A. StaroseltsevaRussian Federation
Cand. Med. Sc., Radiologist, Radiation Diagnostics Division, Clinical and Diagnostic Department, Research Institute for Rehabilitation
Lytkino, 777, Solnechnogorskiy District, Moscow Region, 141534, Russian Federation
N. V. Nudnov
Russian Federation
Dr. Med. Sc., Professor, Deputy Director for Research
ul. Profsoyuznaya, 86, Moscow, 117997, Russian Federation
M. L. Radutnaya
Russian Federation
Head of Radiation Diagnostics Division, Clinical and Diagnostic Department, Research Institute for Rehabilitation
Lytkino, 777, Solnechnogorskiy District, Moscow Region, 141534, Russian Federation
I. G. Shchelkunova
Russian Federation
Deputy Director for Organization of Medical Activities
Lytkino, 777, Solnechnogorskiy District, Moscow Region, 141534, Russian Federation
A. A. Yakovlev
Russian Federation
Deputy Head of Research Institute for Rehabilitation
Lytkino, 777, Solnechnogorskiy District, Moscow Region, 141534, Russian Federation
A. N. Vorobyev
Russian Federation
Neurosurgeon, Department of Surgery
Lytkino, 777, Solnechnogorskiy District, Moscow Region, 141534, Russian Federation
A. N. Kirchin
Russian Federation
Radiologist, Radiation Diagnostics Division, Clinical and Diagnostic Department, Research Institute for Rehabilitation
Lytkino, 777, Solnechnogorskiy District, Moscow Region, 141534, Russian Federation
References
1. Trofimova ТN, Ananyeva NI, Karperko АК, et al. Neuroradiology. Saint Peterburg: SPbMAPO; 2005 (in Russ.).
2. Baser M, Mautner VF, Thakkar SD, Kluwe L. The natural history of neurofibromatosis 2. Am J Hum Genet. 1998; 63 (Suppl 4): A63.
3. Lu-Emerson C, Plotkin SR. The neurofibromatoses. Part 2: NF2 and schwannomatosis. Rev Neurol Dis. 2009; 6(3): E81–6.
4. Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet. 2009; 373(9679): 1974–86. https://doi.org/10.1016/S0140-6736(09)60259-2.
5. Acoustic neuroma. National Institutes of Health Consensus Development Conference Statement. December 11–13, 1991. Available at:
6. https://consensus.nih.gov/1991/1991AcousticNeuroma0 87html.htm (accessed April 7, 2021).
7. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988; 45(5): 575–8.
8. Ardern-Holmes S, Fisher G, North K. Neurofibromatosis type 2. J Child Neurol. 2017; 32(1): 9–22. https://doi.org/10.1177/0883073816666736.
Review
For citations:
Staroseltseva O.A., Nudnov N.V., Radutnaya M.L., Shchelkunova I.G., Yakovlev A.A., Vorobyev A.N., Kirchin A.N. Neurofibromatosis Type 2 Involving the Brain and Spinal Cord. Journal of radiology and nuclear medicine. 2021;102(2):98-108. (In Russ.) https://doi.org/10.20862/0042-4676-2021-102-2-98-108