Results 21 to 30 of about 4,213 (222)

A Rare Case of Familial Schwannomatosis Showing Intrafamilial Variability with Identification of a Shared Novel Germline SMARCB1 Mutation

Medicina, 2022
Schwannomatosis is characterized by the presence of multiple schwannomas without landmarks of NF2. It is considered the rarest form of neurofibromatosis (NF).
Jun Hyun Lee, Jae Seok Jeong, Kum Ju Chae, Yeon-Hee Han, So Ri Kim, Yong Chul Lee   +5 more
doaj   +1 more source

Neurofibromas in LZTR1 schwannomatosis [PDF]

Clinical Genetics, 2022
Contains fulltext : 252012.pdf (Publisher’s version ) (Open Access)
Justus L. Groen, Setareh Moghadasi, Liesbeth Spruijt, Esther Korpershoek, Yvette van Ierland, J. Tom van Wezel, Sjoerd van Duinen, Martijn J. A. Malessy, Saskia A.J. Lesnik Oberstein   +8 more
openaire   +3 more sources

De novo neurofibromatosis type 2-related schwannomatosis in a child presenting with intraocular signs as initial manifestations. [PDF]

Am J Ophthalmol Case Rep
Purpose To report a rare pediatric case of neurofibromatosis type 2-related schwannomatosis (NF2-SWN) diagnosed based on ocular findings, with multimodal imaging and surgical follow-up, highlighting the importance of early ophthalmologic evaluation in ...
Vienne-Jumeau A, Bijon J, Waintraub S, Caputo G, Metge F.   +4 more
europepmc   +2 more sources

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis [PDF]

, 2016
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations ...
Cooper, David Neil, Farschtschi, Said, Kehrer-Sawatzki, Hildegard, Mautner, Victor-Felix   +3 more
core   +3 more sources

SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis. [PDF]

Fam Cancer
SMARCB1 is a core unit of the BAF chromatin remodelling complex and its functional impairment interferes with the self-renewal and pluripotency of stem cells, lineage commitment, cellular identity and differentiation.
Kehrer-Sawatzki H, Cooper DN.
europepmc   +2 more sources

[18F]FDG Positron emission tomography with whole body magnetic resonance imaging ([18F]FDG-PET/MRI) as a diagnosis tool in Schwannomatosis

Orphanet Journal of Rare Diseases, 2021
Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain.
I. Gallais Sérézal, S. Ferkal, L. Lerman, S. Mulé, B. Funalot, P. Wolkenstein   +5 more
doaj   +1 more source

Polyradiculopathies from Schwannomatosis [PDF]

The Open Neuroimaging Journal, 2011
We describe a case of schwannomatosis presenting as radicular pain and numbness in multiple radicular nerve distributions. There were multiple peripheral nerve tumors detected by magnetic resonance imaging (MRI) at the left vestibular nerve, cauda equina, right radial nerve, thoracic paraspinal nerve, and brachial plexi.
Jia, Yuxia, Kraus, James A., Reddy, Hasini, Groff, Michael, Wong, Eric T   +4 more
openaire   +2 more sources

LZTR1‐related spinal schwannomatosis and 7q11.23 duplication syndrome: A complex phenotype with dual diagnosis

Molecular Genetics & Genomic Medicine, 2021
Background Dual diagnoses in genetics practice are not uncommon and patients with dual diagnosis often present with complex and challenging phenotypes.
Karthik Muthusamy, Maciej M. Mrugala, Bernard R. Bendok, Radhika Dhamija   +3 more
doaj   +1 more source

Bilateral trigeminal nerve sheath tumors treated with stereotactic radiosurgery: A case report

Interdisciplinary Neurosurgery, 2021
Bilateral trigeminal nerve sheath tumors are extremely rare with a paucity of previously disseminated cases. In addition, bilateral nerve sheath tumors are often secondary to genetic conditions such as Neurofibromatosis (NF) 2 and schwannomatosis.
Carlin Chuck, Rahul Amrutur Sastry, Deus Cielo   +2 more
doaj   +1 more source

Segmental neurofibromatosis type 2: discriminating two hit from four hit in a patient presenting multiple schwannomas confined to one limb [PDF]

, 2015
Background: A clinical overlap exists between mosaic Neurofibromatosis Type 2 and sporadic Schwannomatosis conditions. In these cases a molecular analysis of tumors is recommended for a proper genetic diagnostics.
Amilibia, Emilio, Bielsa, Isabel, Blanco Guillermo, Ignacio, Carrato, Cristina, Castellanos, Elisabeth, Hostalot, Cristina, Lázaro García, Conxi, NF2 Multidisciplinary Clinics HUGTiP-ICO-IMPPC, Prades, José, Roca Ribas, Francesc, Rosas, Inma, Serra Arenas, Eduard, Solanes, Ares   +12 more
core   +4 more sources