Results 1 to 10 of about 33,494 (146)

Oculomotor nerve palsy in neurofibromatosis type 2 [PDF]

Radiology Case Reports, 2022
Neurofibromatosis (NF) type 2 is a rare neurological, autosomal dominant and genetic disorder. It is caused by a mutation in the tumor suppressor gene, called NF2 gene. The disorder results in several benign tumors of the nervous system.
Aymen Shahab, MBBS, Hafsa Sardar, MBBS, Samaa Akhtar, MD, MSc, Anam Safdar, MBBS,FCPS, Muhammad Ismail Safi, MD, Izaz Ahmad, Faheemullah Khan, MBBS,MD   +6 more
doaj   +2 more sources

Psychiatric symptoms in neurofibromatosis type 2 [PDF]

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   +2 more sources

Central nervous system manifestations of neurofibromatosis type 2: A case report [PDF]

Radiology Case Reports, 2023
Neurofibromatosis type 2 (phacomatosis) is a rare inherited autosomal dominant condition defined by the development of numerous central neuronal tumors.
Zineb Izi, MD, Kaoutar Imrani, MD, Najwa Amsiguine, MD, Tlaite Oubaddi, MD, Nabil Moatassim Billah, PhD, Ittimade Nassar, PhD   +5 more
doaj   +2 more sources

The genetic landscape and possible therapeutics of neurofibromatosis type 2 [PDF]

Cancer Cell International, 2023
Neurofibromatosis type 2 (NF2) is a genetic condition marked by the development of multiple benign tumors in the nervous system. The most common tumors associated with NF2 are bilateral vestibular schwannoma, meningioma, and ependymoma.
Mohammad Amin Ghalavand, Alimohamad Asghari, Mohammad Farhadi, Farzad Taghizadeh-Hesary, Masoud Garshasbi, Masoumeh Falah   +5 more
doaj   +2 more sources

Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2 [PDF]

American Journal of Ophthalmology Case Reports
We describe a teenage boy with gradually progressive blurred vision in right eye. He could appreciate hand motions in the right eye and 20/20 vision in the left eye. Ophthalmic examination revealed bilateral optic atrophy with yellow-white peri-papillary
Shreya Gupta, Goura Chattannavar, Ashima Goyal Sharma, Ramesh Kekunnaya   +3 more
doaj   +2 more sources

Characteristics of MicroRNA Expression Depending on the Presence or Absence of Meningioma in Patients with Neurofibromatosis Type 2: A Secondary Analysis [PDF]

Neurologia Medico-Chirurgica
Meningioma is the second most frequent tumor in patients with neurofibromatosis type 2 (NF2). The presence of meningioma is believed to be a negative prognostic marker in these patients.
Takeshi IMURA, Takafumi MITSUHARA, Nobutaka HORIE   +2 more
doaj   +2 more sources

Ophthalmic Manifestation in Neurofibromatosis Type 2

Applied Sciences, 2023
Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and optic nerve sheath meningiomas. Moreover, optic disk edema,
Marta Armentano, Luca Lucchino, Ludovico Alisi, Antonio Valerio Chicca, Valerio Di Martino, Emanuele Miraglia, Ludovico Iannetti, Anna Maria Comberiati, Sandra Giustini, Alessandro Lambiase, Antonietta Moramarco   +10 more
doaj   +1 more source

Neurofibromatosis type 2 [PDF]

Journal of Medical Genetics, 2000
Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superior vestibular branch of the 8th cranial nerve, usually ...
D G, Evans, M, Sainio, M E, Baser
openaire   +4 more sources

Neurofibromatosis type 2 [PDF]

The Lancet, 2009
Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age.
Ashok R, Asthagiri, Dilys M, Parry, John A, Butman, H Jeffrey, Kim, Ekaterini T, Tsilou, Zhengping, Zhuang, Russell R, Lonser   +6 more
openaire   +3 more sources

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