The clinical presentation of neurofibromatosis type 2 is comprised of several crucial elements [1] [2] [3] [4] [5] [6]:

• Nervous system tumors - Schwannomas are the most common tumor type identified in patients suffering from this condition and they predominantly develop in vestibular nerves [1] [2] [3]. For this reason, early-onset bilateral hearing loss and possible deafness in adolescents (accompanied by tinnitus and deficits in maintaining balance) is a cardinal characteristic of neurofibromatosis type 2 [2] [3]. Schwannomas, but also meningiomas, ependymomas, and astrocytomas, may also be seen in other parts of the nervous system, such as the spinal cord, the cranial nerves, and the peripheral nervous system [1] [2] [3]. In rare cases, vestibular tumors can compress the brain stem and induce hydrocephalus [1]. One of the additional traits of neurofibromatosis related to the nervous system are neuropathies that often develop (without a connection to the tumors), mainly manifesting as palsies of the facial or oculomotor nerve, whereas peripheral signs of a foot drop or wrist drop are encountered as well [1] [6].
• Ocular deficits - Although findings related to the vestibular system are a very important feature of neurofibromatosis, eye symptoms often precede hearing loss and are often the first sign of this rare condition [1] [3]. Subcapsular lens opacities that may progress into cataracts, retinal hamartomas, and epiretinal membranes can be noticed in the affected population [1].
• Skin lesions - Schwannomas can also develop on the skin, either subcutaneously or intradermally [3]. In addition, the appearance of slightly raised and well-circumscribed hyperpigmented plaques commonly indicates neurofibromatosis [3].

• Weakness

  A 15-year-old male adolescent presented with a history of congenital peripheral facial palsy, amblyopia, a retinal "membrane", and weakness of the left lower limb. [ncbi.nlm.nih.gov]

  Larger neurofibromas may press on their nerve of origin and cause distal paresthesia, pain, and sensory loss or weakness, depending on the function of that nerve. [merckmanuals.com]

• Disability

  In 587 patients in whom longitudinal disability data were available, multivariate logistic regression was performed to identify risk factors for significant progression of disability. [ncbi.nlm.nih.gov]

• Asymptomatic

  Optic gliomas are typically asymptomatic and do not require treatment unless they progressively increase in size. [merckmanuals.com]

  The present three children had (1) small (<1 cm), bilateral vestibular schwannomas (VSs) detected (as an incidental finding) at magnetic resonance imaging (MRI) by the age of 4 to 5 months that were asymptomatic for 10 to 14 years, with sudden and rapid [ncbi.nlm.nih.gov]

• Epilepsy

  Even though cerebral cortical lesions are frequently associated with seizures, epilepsy is rarely described in NF2. Here, we describe an adult case of NF2 in which the onset of symptoms was characterised by status epilepticus. [ncbi.nlm.nih.gov]

  Epilepsy Epilepsy can be treated with a number of different medications that help reduce the frequency of seizures. Read more about treating epilepsy. [nhs.uk]

  We offer psychological assessment and interventions for children with neurological conditions such as epilepsy, chronic headaches, tics, and neuromuscular conditions. [cpft.nhs.uk]

• Surgical Procedure

  We describe a particularly challenging case in a 39-year-old male with over 120 lesions who underwent more than 30 surgical procedures, and review the literature. [ncbi.nlm.nih.gov]

  View videos of surgical procedures and access the complete contents of Retina, 5th Edition online at www.expertconsult.com, fully searchable, with regular updates and a downloadable image gallery. [books.google.com]

  The surgical procedure usually requires a team of neurosurgeons, ophthalmologists, and ear, nose, and throat (ENT) specialists. These specialists ensure that the tumor is removed safely without causing damage to the surrounding areas. [healthline.com]

  Turmeric supplements should be avoided in case of : Pregnancy and lactation Prior to surgical procedures If suffering from gall bladder problems If taking blood sugar lowering medicines, blood thinning drugs, antidepressants or stomach acid reducing drugs [turmericforhealth.com]

• Visual Impairment

  Optic nerve and/or orbital meningiomas are also seen in some patients with NF2 and can cause visual impairment. Patients with NF2 develop few neurologic manifestations other than the direct result of their tumor burden. [clinicaladvisor.com]

  Guide - BWalker, visual impairments, for parents and teachers Odyssey, Laurent Clerc National Deaf Education Center, Gallaudet University DB-LINK - National Information Clearinghouse on Children Who Are Deaf-Blind Youth Programs, National NF Foundation [kumc.edu]

  Visual impairment from ocular conditions is common, as are early impairments in mobility. In contrast to NF1, osseous lesions are not typically seen. [now.aapmr.org]

• Visual Impairment

  Optic nerve and/or orbital meningiomas are also seen in some patients with NF2 and can cause visual impairment. Patients with NF2 develop few neurologic manifestations other than the direct result of their tumor burden. [clinicaladvisor.com]

  Guide - BWalker, visual impairments, for parents and teachers Odyssey, Laurent Clerc National Deaf Education Center, Gallaudet University DB-LINK - National Information Clearinghouse on Children Who Are Deaf-Blind Youth Programs, National NF Foundation [kumc.edu]

  Visual impairment from ocular conditions is common, as are early impairments in mobility. In contrast to NF1, osseous lesions are not typically seen. [now.aapmr.org]

• Muscle Weakness

  Tumors on the eighth cranial nerve can also lead to vision problems, poor balance, and muscle weakness. As a result, many patients become wheelchair-bound. Studies from the 1970s and 80s predicted that patients would live to their mid-thirties. [healthline.com]

  A significant proportion of cases (20–30%) present with symptoms from an intracranial meningioma (headaches, seizures), spinal tumour (pain, muscle weakness, paraesthesia), or cutaneous tumour [ 1, 11 – 13 ]. [ojrd.biomedcentral.com]

  Peripheral muscle weakness in RASopathies. [web.archive.org]

• Tinnitus

  […] of tinnitus in these patients. [ncbi.nlm.nih.gov]

  For this reason, early-onset bilateral hearing loss and possible deafness in adolescents (accompanied by tinnitus and deficits in maintaining balance) is a cardinal characteristic of neurofibromatosis type 2. [symptoma.com]

• Progressive Hearing Loss

  More than 90% of the patients develop bilateral vestibular schwannomas, which are the hallmark of NF2 and lead to progressive hearing loss in adult patients. [els.net]

  Of the seven patients measured for hearing response, four had improved hearing. Two had stable hearing, while one had progressive hearing loss. Of the patients who had improved hearing, some reported significant increases in word recognition. [massgeneral.org]

  The first sign of NF 2 is usually progressive hearing loss. This is caused by tumours developing on the eighth cranial nerve responsible for balance and hearing. [southerncross.co.nz]

• Hearing Impairment

  In patients after the age of 30, in whom we observe multiple schwannomas without the concomitant hearing impairment, the diagnosis of schwannomatosis is very likely. [ncbi.nlm.nih.gov]

  Treating hearing problems If you have NF2, your hearing will probably become impaired to such an extent that you'll require treatment. Hearing aids One option may be to consider a hearing implant. [web.archive.org]

  Scoliosis resource listing Hearing impairment resource listing Clinical trials open through the National Institutes of Health for NF1 and NF2 NF Network is an international website with links to information in various countries and languages. [med.umich.edu]

  With NF1, the risk of hearing impairments is not increased appreciably. Discuss indications for surgery, as appropriate. [pediatrics.aappublications.org]

• Macula

  […] functional abnormalities in autonomic vasomotor nerve cells, leading to the formation of retinal microvessel abnormalities. 52 Makino et al 53 reported a patient with retinal microvascular abnormalities linked with congenital retinal macrovessels across the macula [dovepress.com]

• Skin Plaque

  Can result from spinal tumors, mononeuropathy, or polyneuropathy Presenting Features of NF2 in Childhood Skin findings include intradermal plaque-like tumors that often have excess hair and skin pigmentation. [ncbi.nlm.nih.gov]

• Seizure

  Even though cerebral cortical lesions are frequently associated with seizures, epilepsy is rarely described in NF2. Here, we describe an adult case of NF2 in which the onset of symptoms was characterised by status epilepticus. [ncbi.nlm.nih.gov]

  I started having migraines, then I started having a lot more seizures. They decided some of them were non-epileptic seizures brought on from the pain and stress that I live with. But over this time I have gained depression. [rareundiagnosed.org]

  This too can lead to loss of normal function including headaches and seizures. Finally a tumour within the spinal cord called an ependymoma affects around 20-40% of people but are usually non progressive. [genturis.eu]

  Nearly 50 percent of children with NF1 have speech problems, learning disabilities, seizures and hyperactivity. Less than one percent of those affected with NF1 may have malignant tumors and may require treatment. [genome.gov]

• Headache

  Forty two-year-old female hospitalized three times because of the tumors of the spinal canal was admitted to the Department of Neurosurgery and Peripheral Nerve Surgery in 2008 because of the cervical pain syndrome with concomitant headache. [ncbi.nlm.nih.gov]

  NF2 is characterized by tumors on the eighth cranial nerve, which can lead to hearing loss, headaches, loss of facial control, and problems with balance and walking. [weillcornellbrainandspine.org]

  This too can lead to loss of normal function including headaches and seizures. Finally a tumour within the spinal cord called an ependymoma affects around 20-40% of people but are usually non progressive. [genturis.eu]

  Tinnitus, dizziness, facial numbness, balance problems and chronic headaches may also surface during the teenage years. Numbness may also occur in other parts of the body, due to spinal cord tumors. [genome.gov]

• Stroke

  Here we report three children with NF2 with cerebral arteriopathy and/or arterial ischaemic stroke. [ncbi.nlm.nih.gov]

  […] represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. [web.archive.org]

• Irritability

  […] múltiple A02 Escalofríos A03 Fiebre A04 Astenia/cansancio/debilidad A05 Sensación de enfermedad A06 Desmayo/síncope A07 Coma A08 Inflamación A09 Problemas de sudoración A10 Sangrado/hemorragia NE A11 Dolor torácico NE A13 Miedo al tratamiento A16 Lactante irritable [iqb.es]

  Most neurofibromas are not particularly painful, but they may be visible, catch on clothes and occasionally cause irritation and stinging. [nhs.uk]

  Most neurofibromas aren't particularly painful, but may look unattractive, catch on clothes and occasionally cause irritation and stinging. [web.archive.org]

  Neurofibromas on the scalp, along the hairline, or around the waist where clothes rub can cause irritation and discomfort and are worthy of removal. [patient.info]

• Paresis

  First symptoms were progressive changes in vision, left-sided paresis, unilateral sensorineural hearing loss, and left hypoglossal nerve paresis. [ncbi.nlm.nih.gov]

  Weakness, paresis, and spasticity also follow intracranial involvement. Damage to the cranial nerves and brain stem is not only disabling, but can be life-threatening. [now.aapmr.org]

  Case 4 Clinical investigation showed absent ankle jerks, discrete bilateral paresis of anterior tibialis and peroneal muscles, and reduced vibration sense at lower extremities in this patient. [academic.oup.com]

  […] tortuous vessels due to the retraction of the internal limiting membrane and patchy areas of hypofluorescence due to hyperpigmentation. 16 Other sporadic findings in NF2 are as follows: dystrophic keratitis due to fifth cranial nerve involvement or facial paresis [dovepress.com]

The diagnostic workup of patients must include a thorough patient history and a detailed physical examination. The physician should obtain as much information as possible regarding the onset of complaints, their progression, as well as severity, while a complete neurological and skin examination is crucial for raising clinical suspicion [2] [3]. The findings of bilateral hearing loss in adolescence with cutaneous lesions and neuropathy can be sufficient to make a presumptive diagnosis based on clinical grounds. Despite the fact that autosomal dominant pattern of inheritance is established (meaning that a proper family history is of great benefit) [4], up to 50% of cases develop de novo mutations [2] [3]. For this reason, the presence of a bilateral vestibular schwannoma (regardless of the family history) is considered to be the main criteria for neurofibromatosis type 2 [3] [5]. Alternatively, a clinical diagnosis is reached when unilateral vestibular tumors or two lesions typically associated with this condition are supported by either a positive family history or the appearance of multiple meningiomas [3] [4]. To confirm central nervous system tumors, magnetic resonance imaging (MRI) is the cornerstone and high-resolution T1 weighted, contrast-enhanced images are optimal for visualizing vestibular schwannomas [3]. By using mutational analysis of the NF2 gene located on chromosome 22, genetic studies can be employed to make a definitive diagnosis [1].

Evidence for disease-specific medical treatment options is increasing, nevertheless most patients will benefit from multimodal treatment including surgery during their lifetime. [ncbi.nlm.nih.gov]

The prognosis varied among spinal schwannomas in the patients with schwannomatosis. [ncbi.nlm.nih.gov]

Little is understood about the etiology and underlying mechanisms. To our knowledge, macrodactyly has not previously been associated with neurofibromatosis type 2. [ncbi.nlm.nih.gov]

Etiology NF2 is caused by mutations in the NF2 gene on chromosome 22. More than 50% of patients represent new mutations and as many as one-third are mosaic for the underlying disease-causing mutation. [orpha.net]

To identify the etiology of peripheral neuropathy in patients with NF2. To identify serum biomarkers of NF2 disease progression. [clinicaltrials.gov]

The opening chapters cover general principles, including epidemiology, pathogenesis, tumor stem cells, supportive care, complications of therapy, and quality of life. [books.google.com]

Brain Tumour Research Network, Royal Manchester Children's Hospital, Manchester, UK. 2 Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA. 3 National Drug Evidence Centre (NDEC), Centre for Epidemiology [ncbi.nlm.nih.gov]

Summary Epidemiology Prevalence (initially estimated at 1: 200,000) is around 1 in 60,000. Clinical description Affected individuals inevitably develop schwannomas, typically affecting both vestibular nerves and leading to hearing loss and deafness. [orpha.net]

A twelve-year follow-up of an epidemiological study in Goteborg, Sweden. Acta Derm Venereol 1995;75(2):136-40. PubMed Google Scholar 3. Wang Z, Liu Y. [degruyter.com]

Though patients with hereditary cancer syndromes may be too rare to effectively include in large clinical trials, by understanding the pathophysiology of these diseases, clinicians can attain insights into the use of targeted therapies in their own practice [ncbi.nlm.nih.gov]

Offers the most comprehensive content available on retina, balancing the latest scientific research and clinical correlations, covering everything you need to know on retinal diagnosis, treatment, development, structure, function, and pathophysiology. [books.google.com]

Synonym(s): bilateral acoustic neurofibromatosis; formerly central NF Epidemiology Incidence Birth incidence: 1/33,000 to 40,000 Prevalence 1/60,000 Etiology and Pathophysiology Protein product of affected gene is called “merlin” or “schwannomin”: Merlin [unboundmedicine.com]

The pathophysiology of neurofibromatosis (type 1) consists of the NF1 gene protein. This protein is a tumor suppressor and therefore serves as a signal regulator of cell proliferation and differentiation. [en.wikipedia.org]

If there is a tumor inside the cranium, the disease in the brain must be treated first to prevent the occurrence of cerebral hernia or hemorrhage. [ncbi.nlm.nih.gov]

It is effective in preventing cancer as well as treating it: It destroys cancer cells. It stops the blood supply to tumors. It prevents cancer from spreading to other parts of the body. It destroys cancer stem cells. [turmericforhealth.com]

Currently there is no cure, no long-term treatments or any prevention for NF. NF involves the uncontrolled growth of tumors along the nerves anywhere in the body, internal and external, and at any time throughout an individual’s life. [texasnf.org]

Haber Springer Science & Business Media, ٢٠‏/٠٧‏/٢٠١٠ - 227 من الصفحات Advances in genetics are transforming estimates of an individual’s risk of developing cancer and approaches to prevention and management of cancer in those who may have increased susceptibility [books.google.com]

1. Evans DG. Neurofibromatosis 2. 1998 Oct 14 [Updated 2011 Aug 18]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2. Lloyd SK, Evans DG. Neurofibromatosis type 2 (NF2): diagnosis and management. Handb Clin Neurol. 2013;115:957-967.
3. Asthagiri AR, Parry DM, Butman JA, et al. Neurofibromatosis type 2. Lancet. 2009;373(9679):1974-1986.
4. Evans DGR, Huson SM, Donnai D, et al. A genetic study of type 22 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity. J Med Genet. 1992;29:841–46.
5. Evans DGR, Sainio M, Baser ME. Neurofibromatosis type 2. J Med Genet. 2000;37:897–904.
6. Evans DGR, Birch JM, Ramsden RT. Paediatric presentation of type 2 neurofibromatosis. Arch Dis Child. 1999;81:496–99.