Neuronavigational approach for orbital neurofibroma excision: a case report [PDF]
, 2015 Orbital neurofibromas are uncommon in adults, accounting for approximately 1%-3% of all space occupying lesions of the orbit. The complex anatomy of the orbital region, with the pronounced vulnerability of its neurovascular structures, requires ...
CASCONE, PIERO +5 more
core +1 more source
Whole tumor RNA-sequencing and deconvolution reveal a clinically-prognostic PTEN/PI3K-regulated glioma transcriptional signature [PDF]
, 2017 The concept that solid tumors are maintained by a productive interplay between neoplastic and non-neoplastic elements has gained traction with the demonstration that stromal fibroblasts and immune system cells dictate cancer development and progression ...
Bush, Erin C +6 more
core +2 more sources
Anaesthetic Management of a Child with Neurofibromatosis Type 2 for Multiple Tumour Decompressions [PDF]
Journal of Clinical and Diagnostic Research, 2013 Neurofibromatosis type 2 is a genetic disorder with autosomal dominant pattern. It can manifest as intracranial, spinal, ocular and cutaneous lesions. The lesions can extend to all the systems.
Geetha Lakshiminarasimhaiah +4 more
doaj +1 more source
Cystic meningioangiomatosis and cerebellar ependymoma in a child with neurofibromatosis type 2
Radiology Case Reports, 2022 We report a case of multifocal cystic meningioangiomatosis (MA), an exceptionally uncommon diagnosis even in patients with type 2 neurofibromatosis (NF2).
Austin Wheeler, MD +3 more
doaj +1 more source
Psychiatric symptoms in neurofibromatosis type 2
European Psychiatry, 2021 Introduction Neurofibromatosis type 2 (NF2) is a rare disorder associated with significant morbidity such as hearing loss that can lead to many psychiatric disorders. Objectives Describe the psychiatric symptoms associated to NF2. Methods We report
S. Khouadja +3 more
doaj +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources
Indian Spine Journal, 2019 Schwannomas are benign, slow-growing tumors originating from sensory rootlets. Schwannomatosis is a distinct clinical syndrome characterized by the presence of multiple schwannomas in the spine with the absence of typical features suggestive of either ...
Sandeep Bhardwaj +3 more
doaj +1 more source
A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment [PDF]
, 2016 Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency.
Abdolrahimzadeh, B +5 more
core +2 more sources
Pediatric Neurology Briefs, 1987 LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
doaj +1 more source
Mapping the Genetic Landscape of Neurofibromatosis: Insights from a Multi-Generational Family Study
Journal of Indian Academy of Oral Medicine and RadiologyBackground: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition resulting from mutations in the NF1 tumor suppressor gene. Affected individuals exhibit pigmentary changes, including café-au-lait macules, skinfold freckling, and Lisch ...
Praveen Kumar Neela +5 more
doaj +1 more source