Neurofibromatosis type 2 is an autosomal dominant genetic disease that stems from mutations in the NF2 gene located on chromosome 22. The hallmark of this condition is a predisposition to various tumors of the nervous system and the skin, with symptoms usually starting in adolescence and early adulthood. Bilateral schwannomas of vestibular nerves producing bilateral hearing loss are a highly specific finding, whereas meningiomas and ependymomas of the spine, neuropathies, and ocular disturbances from cataracts or retinal hamartomas are other typical features. The diagnosis rests on clinical criteria and genetic studies.
The clinical presentation of neurofibromatosis type 2 is comprised of several crucial elements      :
- Nervous system tumors - Schwannomas are the most common tumor type identified in patients suffering from this condition and they predominantly develop in vestibular nerves   . 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  . 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   . In rare cases, vestibular tumors can compress the brain stem and induce hydrocephalus . 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  .
- 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  . Subcapsular lens opacities that may progress into cataracts, retinal hamartomas, and epiretinal membranes can be noticed in the affected population .
- Skin lesions - Schwannomas can also develop on the skin, either subcutaneously or intradermally . In addition, the appearance of slightly raised and well-circumscribed hyperpigmented plaques commonly indicates neurofibromatosis .
Entire Body System
- Retinal Lesion
The purpose of this study was to describe a subset of severely affected patients with neurofibromatosis type 2 (NF2), multiple central nervous system tumors, and characteristic retinal lesions. [ncbi.nlm.nih.gov]
- Bilateral Proptosis
A 12-year-old girl with a family history of NF2 was examined because of bilateral proptosis. Visual acuities were light perception RE and 20/40 LE. [ncbi.nlm.nih.gov]
The patient ultimately underwent a distal gastrectomy for a partially obstructing submucosal antral mass, associated with an overlying ulcer. Histopathologic examination showed the mass to be a PS. [ncbi.nlm.nih.gov]
If facial nerve damage coexists with loss of corneal sensation from damage to the trigeminal nerve then the eye becomes exceptionally vulnerable to corneal ulceration and blindness. [ojrd.biomedcentral.com]
[…] 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]
Three grade 3 adverse events, hypertension (n 2) and immune-mediated thrombocytopenic purpura (n 1), were possibly related to bevacizumab. [ncbi.nlm.nih.gov]
- 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]
impairment Depending on the extent and severity of your symptoms, more frequent tests may sometimes be required. [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]
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]
NF2 Symptoms Symptoms depend on the exact location and size of the tumor and may include: Hearing loss Tinnitus (ringing in ears) Poor balance Headaches Pain or numbness in the face Visual problems such as double or blurry vision Weakness or tingling [neurosciences.uvahealth.com]
We offer psychological assessment and interventions for children with neurological conditions such as epilepsy, chronic headaches, tics, and neuromuscular conditions. [cpft.nhs.uk]
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  . 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) , up to 50% of cases develop de novo mutations  . 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  . 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  . 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 . By using mutational analysis of the NF2 gene located on chromosome 22, genetic studies can be employed to make a definitive diagnosis .
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