scholarly journals A Complete Constellation of Nervous System Lesions of NF2: Imaging Evaluation

2012 ◽  
Vol 2012 ◽  
pp. 1-4
Author(s):  
Kiran Gangadhar ◽  
Sandeep Kumar ◽  
Lovekesh Bhatia ◽  
Arjit Agarwal

The radiological findings fulfilling the criteria of neurofibromatosis type 2 (NF2) were reviewed. NF2 is a rare disease with few cutaneous but frequent, typical radiological findings in the central nervous system. The presenting symptom is most commonly hearing loss due to acoustic schwannomas, although symptoms emanating from other intracranial or tumors are not uncommon. The discovery of multiple spinal neurofibromas or multiple meningiomas without cutaneous lesions should initiate a search for acoustic schwannomas even when the patient has normal hearing as in our case patient who actually presented for weakness of all four limbs.

Oncotarget ◽  
2018 ◽  
Vol 9 (89) ◽  
pp. 36012-36016
Author(s):  
Mitsunori Higuchi ◽  
Masayuki Watanabe ◽  
Takuya Inoue ◽  
Takumi Yamaura ◽  
Tomoko Suzuki ◽  
...  

1997 ◽  
Vol 19 (1) ◽  
pp. 1-12 ◽  
Author(s):  
Yuichi Inoue ◽  
Yutaka Nemoto ◽  
Takahiko Tashiro ◽  
Keiko Nakayama ◽  
Tetsuo Nakayama ◽  
...  

Cancers ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1831
Author(s):  
Camilla Russo ◽  
Carmela Russo ◽  
Daniele Cascone ◽  
Federica Mazio ◽  
Claudia Santoro ◽  
...  

Neurofibromatosis type 1 (NF1), the most frequent phakomatosis and one of the most common inherited tumor predisposition syndromes, is characterized by several manifestations that pervasively involve central and peripheral nervous system structures. The disorder is due to mutations in the NF1 gene, which encodes for the ubiquitous tumor suppressor protein neurofibromin; neurofibromin is highly expressed in neural crest derived tissues, where it plays a crucial role in regulating cell proliferation, differentiation, and structural organization. This review article aims to provide an overview on NF1 non-neoplastic manifestations of neuroradiological interest, involving both the central nervous system and spine. We also briefly review the most recent MRI functional findings in NF1.


2019 ◽  
Vol 56 (5) ◽  
pp. 783-788 ◽  
Author(s):  
Ileana C. Miranda ◽  
Kyle R. Taylor ◽  
William Castleman ◽  
Alexander de Lahunta ◽  
Brian A. Summers ◽  
...  

Proliferation of ectopic Schwann cells within the central nervous system (CNS) parenchyma (schwannosis) in early life is most commonly associated with human neurofibromatosis type-2 and has been unrecognized in domestic animals. Three foals and a calf, 5 to 11 weeks old, with progressive neurological signs from birth were studied. Histologically, at multiple levels of the spinal cord, all animals had bilateral plaques of proliferative spindle cells, predominantly affecting the white matter adjacent to dorsal and ventral nerve roots and variably extending into the gray matter. Proliferating cells had strong intracytoplasmic immunoreactivity for the Schwann cell markers myelin protein zero and periaxin, highlighting the formation of peripheral nervous system (PNS) myelin within the spinal cord. In all cases, foci of disorganized neural tissue (glioneuronal hamartomas) were present, which in 2 cases formed a mass effect that resulted in syringohydromyelia. Neonatal presentation suggests a congenital maldevelopment of the nervous system, with spontaneous invasion of PNS-derived Schwann cells into the CNS.


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