scholarly journals Surgical treatment of common peroneal neuropathy in schwannomatosis: illustrative cases

2021 ◽  
Vol 1 (26) ◽  
Author(s):  
Robert Y. North ◽  
Rita Snyder ◽  
John M. Slopis ◽  
Ian E. McCutcheon
Keyword(s):  
Symptomatic Relief ◽  
Neurofibromatosis Type ◽  
Tumor Burden ◽  
Surgical Decompression ◽  
Peroneal Neuropathy ◽  
Type 1 Neurofibromatosis ◽  
Tumor Involvement ◽  
Focal Tumor

BACKGROUND Neurofibromatosis syndromes such as neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis often result in painful symptoms related to tumor burden. OBSERVATIONS Painful symptoms classically associated with common points of peripheral nerve entrapment, such as common peroneal neuropathy at the fibular tunnel, may present in patients both with and without focal tumor involvement. LESSONS Surgical decompression at the point of entrapment, with or without resection of tumor, may provide symptomatic relief. Examples of surgical decompression at the point of entrapment, both with and without resection of tumor, are presented.

Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

2019 ◽  
Vol 49 (2) ◽  
pp. 199-219 ◽  
Author(s):  
Shivani Ahlawat ◽  
Jaishri O. Blakeley ◽  
Shannon Langmead ◽  
Allan J. Belzberg ◽  
Laura M. Fayad
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Current Status ◽  
Type 1 Neurofibromatosis

scholarly journals 2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis

2018 ◽  
Vol 176 (5) ◽  
pp. 1258-1269 ◽  
Author(s):  
Michael J. Fisher ◽  
Allan J. Belzberg ◽  
Peter de Blank ◽  
Thomas De Raedt ◽  
Florent Elefteriou ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Neurofibromatosis Type 2 ◽  
Type 1 Neurofibromatosis

scholarly journals EXPRESS: Pulmonary Hypertension Associated With Neurofibromatosis Type 2

2021 ◽  
pp. 204589402110295
Author(s):  
Hirohisa Taniguchi ◽  
Tomoya Takashima ◽  
Ly Tu ◽  
Raphaël Thuillet ◽  
Asuka Furukawa ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Neurofibromatosis Type ◽  
Pulmonary Vascular Remodeling ◽  
Life Threatening ◽  
History Of ◽  
Pulmonary Arterial ◽  
First Time

Although precapillary pulmonary hypertension (PH) is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown. Herein, we report a case of a 44-year-old woman who was initially diagnosed with idiopathic pulmonary arterial hypertension (IPAH) and treated with PAH-specific combination therapy. However, a careful assessment for a relevant family history of the disease and genetic testing reveal that this patient had a mutation in the NF2 gene. Using immunofluorescence and Western blotting, we demonstrated a decrease in endothelial NF2 protein in lungs from IPAH patients compared to control lungs, suggesting a potential role of NF2 in PAH development. To our knowledge, this is the first time that precapillary PH has been described in a patient with NF2. The altered endothelial NF2 expression pattern in PAH lungs should stimulate work to better understand how NF2 is contributing to the pulmonary vascular remodeling associated to these severe life-threatening conditions.

scholarly journals Neurofibromatosis: part 2 – clinical management

2015 ◽  
Vol 73 (6) ◽  
pp. 531-543 ◽  
Author(s):  
Pollyanna Barros Batista ◽  
Eny Maria Goloni Bertollo ◽  
Danielle de Souza Costa ◽  
Lucas Eliam ◽  
Karin Soares Gonçalves Cunha ◽  
...  
Keyword(s):  
Clinical Management ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Cutaneous Manifestations ◽  
Wide Range ◽  
Reduced Rate ◽  
Present Text

Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis

1993 ◽  
Vol 107 (1) ◽  
pp. 6-11 ◽  
Author(s):  
W. J. Neary ◽  
V. E. Newton ◽  
M. Vidler ◽  
R. T. Ramsden ◽  
R. H. Lye ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Team Approach ◽  
Clinical Genetic ◽  
Acoustic Neuromas ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Hereditary Disorders

AbstractThe neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of cafe-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades.Ten families were personally studied. A total of 16 members were found to be affected with NF2. A protocol for evaluation and review of subjects and relatives of NF2 families is proposed. A team approach, coordinating the expertise of multiple specialties is recommended.

Therapeutics for Childhood Neurofibromatosis Type 1 and Type 2

2011 ◽  
Vol 13 (6) ◽  
pp. 529-543 ◽  
Author(s):  
Simone L. Ardern-Holmes ◽  
Kathryn N. North
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type

scholarly journals Neurofibromatosis genetic testing: cohort study

2020 ◽  
pp. 10-11
Author(s):  
К.О. Карандашева ◽  
М.С. Пащенко ◽  
К.И. Аношкин ◽  
Е.Б. Кузнецова ◽  
А.С. Танас ◽  
...  
Keyword(s):  
Cohort Study ◽  
Genetic Testing ◽  
Sanger Sequencing ◽  
Clinical Signs ◽  
Neurofibromatosis Type ◽  
Pathogenic Mutation ◽  
Parallel Sequencing ◽  
Dependent Probe

Исследование проведено на материале ДНК периферической крови 1000 пациентов с клиническими признаками нейрофиброматоза 1-го типа или нейрофиброматоза 2-го типа. Молекулярно-диагностический комплекс включал высокопроизводительное параллельное секвенирование, мультиплексную амплификацию лигированных зондов, секвенирование по Сэнгеру. Клинический диагноз был подтвержден в 70,2% случаев, мутации в генах NF1 и NF2 были выявлены у 672 и 30 пациентов соответственно. The study was conducted of DNA from peripheral blood of 1000 patients with clinical signs of neurofibromatosis type 1 or neurofibromatosis type 2. The genetic testing included massive parallel sequencing, multiplex ligation-dependent probe amplification, Sanger sequencing. The pathogenic mutation was identified in 70.2% of the cases, affecting NF1 and NF2 genes in 672 and 30 cases, respectively.

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