Neurofibromatosis 1 and multiple familial cavernomatosis in an infant with episodic profuse sialorrhoea.

[Neurofibromatosis 1 and multiple familial cavernomatosis in an infant with episodic profuse sialorrhoea]. Rev Neurol. 2019 Oct 16;69(8):350-352 Authors: Sanchez-Marco SB, Monge-Galindo L, Lopez-Pison J, Garcia-Jimenez I, Pena-Segura JL, Lopez-Lafuente A PMID: 31588991 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research

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Publication date: March 2020Source: Interdisciplinary Neurosurgery, Volume 19Author(s): Adrian Kelly, Patrick Lekgwara, Aftab YounusAbstractSpinal schwannomas originate from Schwann cells and as a group represent 30% of spinal cord tumors. These lesions are commonly intra-dural extramedullary in location and in fact purely intramedullary schwannomas of the spinal cord represent only 1.1% of spinal schwannomas. Almost all of these occur in patients with Neurofibromatosis. Approximately 50 cases of intramedullary schwannomas not related to neurofibromatosis have been described to date.This case report gives an account of a y...
Source: Interdisciplinary Neurosurgery - Category: Neurosurgery Source Type: research
(Children's Tumor Foundation) The FDA granted acceptance to file status for selumetinib, for use in patients with plexiform neurofibromas, a common manifestation in neurofibromatosis type one (NF1). This is a key milestone for becoming the first approved treatment for NF. This follows previous designations granting orphan drug status as well as breakthrough status, and enters the drug into the FDA's approval pipeline. The FDA also granted priority review, and a PDUFA has been set for Q2 of 2020.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
nti Eva Trevisson Type 1 neurofibromatosis (NF1) is a dominantly inherited condition predisposing to tumor development. Optic pathway glioma (OPG) is the most frequent central nervous system tumor in children with NF1, affecting approximately 15–20% of patients. The lack of well-established prognostic markers and the wide clinical variability with respect to tumor progression and visual outcome make the clinical management of these tumors challenging, with significant differences among distinct centers. We reviewed published articles on OPG diagnostic protocol, follow-up and treatment in NF1. Cohorts of NF1...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Review Source Type: research
ConclusionCorrection of anterolateral bowing or residual deformity in children with CPT is indicated. Association of external fixation with intramedullary nailing/rodding left in situ after frame removal ensure stability and accuracy of deformity correction. Biological methods of stimulation of bone formation in dysplastic zone are obligatory to ensure bone union. Intramedullary nailing with composite hydroxyapatite-coated surface provides mechanical and biological advantages in patients with CPT.
Source: Journal of Orthopaedics - Category: Orthopaedics Source Type: research
Abstract Solitary or isolated neurofibroma is uncommonly observed in the orbit. Neurofibromas typically involve peripheral nerves and occasionally the cranial nerves. A 29-year-old man presented with recent onset left eye proptosis and exotropia. Physical examination was positive for hyperpigmented lesions of the ipsilateral ocular surface and hard palate. Imaging revealed an infiltrative orbital mass with extension through superior orbital fissure into the brain. There was also bone defect of greater sphenoid wing. Medial orbitotomy was performed to obtain biopsies of the orbital mass and the pigmented ocular sur...
Source: Orbit - Category: Opthalmology Authors: Tags: Orbit Source Type: research
Children and adolescents with the genetic, tumor predisposition syndrome neurofibromatosis type I (NF1) have varying degrees of physical stigmata characteristic of the disease and experience high rates of social difficulties. The present study was the firs...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Daria Riva Neurofibromatosis type-1 (NF1) is a monogenic tumor-predisposition syndrome creating a wide variety of cognitive and behavioral abnormalities, such as decrease in cognitive functioning, deficits in visuospatial processing, attention, and social functioning. NF1 patients are at risk to develop neurofibromas and other tumors, such as optic pathway gliomas and other tumors of the central nervous system. Few studies have investigated the impact of an additional diagnosis of brain tumor on the cognitive outcome of children with NF1, showing unclear results and without controlling by the effect of surgery, radio-...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
ConclusionA case of SNF with classic NF1 mutation in a classic NF1 family was identified for the first time, indicating that SNF may share the same gene mutation with NF1, while the different manifestation of NF1 and SNF may be related to gene modification.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Publication date: Available online 10 November 2019Source: Journal of Oral and Maxillofacial Surgery, Medicine, and PathologyAuthor(s): Gautam Bir Singh, Indu Shukla, Kiran Aggarwal, Sonali MalhotraAbstractSolitary plexiform neurofibromatosis of the oral cavity is a sporadically reported lesion with extremely rare occurrence in lip. Here in, we present one such rare case in a six year old child and discuss its clinical relevance in view of contemporary literature on the cited subject.
Source: Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology - Category: ENT & OMF Source Type: research
17q11.2 microdeletions, which include the neurofibromatosis type 1 (NF1) gene region, are responsible for the NF1 microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the NF1 gene and ...
Source: Italian Journal of Pediatrics - Category: Pediatrics Authors: Tags: Case report Source Type: research
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