Results 31 to 40 of about 25,083,649 (268)

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, Aniruddha Thekkatte Jagannatha, Kulyadi Raghavendra Pai, Ravi Gopal Varma, Alangar Satyaranjandas Hegde   +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, Katie Metrock, MD, Rong Li, MD, Sumit Singh, 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, R. Melki, S. Younes, L. Zarrouk   +3 more
doaj   +1 more source

Four-year follow-up study in a NF1 Boy with a focal pontine hamartoma [PDF]

, 2013
Neurofibromatosis is a collective name for a group of genetic conditions in which benign tumours affect the nervous system. Type 1 is caused by a genetic mutation in the NF1 gene (OMIM 613113) and symptoms can vary dramatically between individuals, even ...
BOZZAO, ALESSANDRO, Nicita F, PAOLINO, MARIA CHIARA, PARISI, Pasquale, PERSECHINO, Severino, Torrente I, VILLA, MARIA PIA   +6 more
core   +2 more sources

Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature

Journal of Neuro-Oncology, 2013
The aim of this study was to review the literature on quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis, and to identify the specific aspects of quality of life that were studied and reported in this ...
A. Vranceanu, V. Merker, E. Park, S. Plotkin   +3 more
semanticscholar   +1 more source

Multiple spinal schwannomas in absence of neurofibromatosis (Schwannomatosis) – A rare condition: Review with case report

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, Kunj Bihari Saraswat, Amit Pratap Singh Deora, Ashok Gupta   +3 more
doaj   +1 more source

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]

, 2019
Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Amirikia, Anand, Arora, Avery, Barbazetto, Boltshauser, Comi, Comi, Cruciani, Cunha e Sá, Curcio, Fenicia, Ferry, Gass, Giovannini, Gottlieb, Griffiths, Gunduz, Harris, Iwach, Kardon, Kashani, Kaushik, Kissel, Kivela, Kjeka, Kranemann, Lambiase, Lindsey, Linsenmeier, Luke, Madreperla, Mannino, Mantelli, Marana Perez, Maruyama, Muci Mendoza, Nema, Parsa, Patrianakos, Paulus, Pearce, Phelps, Recupero, Riley, Rodriguez Bujaldon, Schirmer, Scott, Scott, Sharan, Shields, Shields, Shin, Shirley, Singh, Sturge, Sujansky, Sullivan, Tanwar, Thomas-Sohl, Waelchli, Walter, Witschel, Wong, Worster Drought, Zallmann, Ziemssen, Zografos, Zografos   +76 more
core   +1 more source

Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]

, 2013
Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M, Ribeiro, MJ, Silva, ED, Violante, IR   +3 more
core   +1 more source

Neurofibromatosis

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 Radiology
Background: 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, BV Rajeshwari, Anulekha Avinash, Avinash Tejasvi, Vasavi Mohan, Shahistha Parveen   +5 more
doaj   +1 more source