Neurofibromatosis Type 2

Neurofibromatosis Type 2 (NF2) is a rare genetic disorder characterized by the development of tumors on the nerves that control hearing and balance.

Find Balance and Renewed Strength with Dr. Panossian in Pasadena

The emotional toll of Neurofibromatosis Type 2 (NF2) can be overwhelming, as the prospect of managing tumors along the nerves in your brain and spine is no small task. Dr. Panossian understands the complex emotions accompanying an NF2 diagnosis and specializes in providing compassionate care and innovative treatments to alleviate your concerns. With expertise in neurofibromatosis and facial paralysis reconstruction, Dr. Panossian offers advanced solutions tailored to address the symptoms of NF2, providing hope for a brighter future.

Understanding Neurofibromatosis Type 2

Neurofibromatosis Type 2 (NF2) is a rare genetic disorder characterized by the growth of tumors on the nerves that transmit sound and balance signals from the inner ear to the brain. These tumors, known as vestibular schwannomas or acoustic neuromas, typically develop on the vestibular nerve, which controls balance and hearing. NF2 can also affect other nerves in the body, leading to the growth of additional tumors on the spinal cord, peripheral nerves, and brain. While the severity and progression of NF2 can vary among individuals, symptoms often manifest in early adulthood. They may include hearing loss, balance problems, ear ringing (tinnitus), and facial weakness or numbness. As NF2 progresses, these tumors can exert pressure on surrounding structures, potentially causing complications such as brainstem compression and neurological deficits. Early diagnosis and comprehensive management are crucial for optimizing outcomes and addressing the multifaceted challenges associated with NF2.

Diagnosis: Key Characteristics of Neurofibromatosis Type 2

Diagnosing Neurofibromatosis Type 2 (NF2) involves careful evaluation of clinical signs and symptoms and genetic testing to confirm the diagnosis. While the diagnostic process for NF2 shares similarities with NF1, distinct features differentiate NF2. Key characteristics indicative of NF2 include the following:

Bilateral vestibular schwannomas, detected through imaging studies such as MRI or CT scans, are the hallmark feature of NF2. These tumors typically arise on both vestibular nerves, which control balance and hearing and may lead to symptoms such as hearing loss, balance issues, and tinnitus.
Other cranial nerve tumors, including meningiomas, gliomas, or schwannomas, may also be present in individuals with NF2, contributing to a diverse array of neurological symptoms.
Spinal tumors, such as schwannomas and meningiomas, can develop along the spinal cord, potentially causing neurological deficits and impairments.
Cutaneous tumors, such as schwannomas and neurofibromas, may manifest on the skin, adding to the diagnostic profile of NF2.
Ophthalmologic manifestations, such as cataracts, retinal hamartomas, or optic nerve gliomas, may occur in some individuals with NF2, affecting vision and eye health.
Skeletal abnormalities, such as scoliosis, kyphosis, or sphenoid wing dysplasia, may be observed in individuals with NF2, contributing to the complexity of the condition.
Additional features may include epilepsy, cognitive impairment, and various neurological deficits, further complicating the diagnostic picture and management of NF2.

In addition to clinical evaluation and imaging studies, genetic testing may be recommended to identify mutations in the NF2 gene located on chromosome 22, which confirm the diagnosis of NF2. Unlike NF1, which primarily affects nerve-supporting cells called Schwann cells, NF2 predominantly involves mutations in the NF2 gene, which encodes a tumor suppressor protein called Merlin. Loss of functional merlin protein due to NF2 gene mutations leads to uncontrolled growth of tumors arising from Schwann cells and other nerve cell types. The autosomal dominant pattern of inheritance observed in NF2 indicates that individuals inherit one mutated copy of the NF2 gene from a parent. However, in some cases, new mutations can arise spontaneously without a family history of the condition. Thorough clinical evaluation, imaging studies, and genetic testing are essential for accurate diagnosis and comprehensive management of NF2. Early detection and diagnosis are crucial for implementing appropriate treatment strategies and optimizing outcomes for individuals with NF2.

I've Been Diagnosed with NF2 Next Steps

Navigating a diagnosis of Neurofibromatosis Type 2 (NF2) can feel overwhelming, but you don't have to face it alone. Your first step is to seek consultation with a knowledgeable neurologist or geneticist specializing in neurofibromatosis. Depending on the severity of your condition and specific findings, your healthcare provider may recommend further evaluation by a neurosurgeon to assess the need for surgical intervention, particularly for vestibular schwannomas or other brain tumors. Once stabilized, you may benefit from consultation with a plastic surgeon who specializes in neurofibromatosis to address peripheral nerve dysfunction, as well as any symptoms of pain or disfigurement associated with the condition. Dr. Panossian brings extensive expertise in neurofibromatosis and facial paralysis reconstruction, offering innovative solutions to reanimate the face and restore function in individuals affected by NF2. With compassionate care and advanced treatment options, Dr. Panossian and his team are dedicated to supporting your journey toward renewed health and vitality.

Neurofibromatosis Type 2 Treatments

Neurofibromatosis Type 2 (NF2) requires specialized treatment approaches to manage its unique array of symptoms effectively. Dr. Panossian offers tailored treatment options designed to address the specific needs of individuals with NF2, aiming to alleviate symptoms, minimize complications, and enhance overall quality of life.

Surgical Excision

Surgical excision is a fundamental treatment for NF2, targeting the removal of vestibular schwannomas (acoustic neuromas) and other benign tumors associated with the condition. Dr. Panossian utilizes precise surgical techniques to excise tumors while preserving neurological function and minimizing the risk of recurrence. By effectively removing tumors, surgical excision can alleviate symptoms such as hearing loss, balance issues, and facial weakness, enhancing the patient's well-being and quality of life.

Electrodesiccation

Electrodesiccation is a specialized procedure used to treat cutaneous neurofibromas and other skin lesions characteristic of NF2. During electrodesiccation, high-frequency electrical currents are applied to targeted lesions, causing them to desiccate and shrink. Dr. Panossian employs this minimally invasive technique to reduce the size and number of neurofibromas, improve skin appearance, and reduce associated symptoms such as itching and discomfort. With electrodesiccation, patients can experience enhanced comfort and cosmetic outcomes, improving their overall quality of life.

Follow-Up Care

Following treatment for NF2, ongoing monitoring and follow-up care are essential to evaluate treatment effectiveness, monitor tumor growth, and address emerging symptoms or concerns. Dr. Panossian provides personalized follow-up care plans for patients with NF2, including regular evaluations, imaging studies, and consultations as needed. By closely monitoring patients' progress and adjusting treatment strategies as necessary, Dr. Panossian ensures optimal outcomes and continued support for individuals living with NF2.

The Benefits of Neurofibromatosis Type 2 Treatment

Living with Neurofibromatosis Type 2 (NF2) presents unique challenges, affecting both physical health and emotional well-being. Dr. Panossian provides comprehensive treatment options tailored to meet the specific needs of individuals with NF2, offering a range of benefits to enhance quality of life. The transformative benefits of NF2 treatment include the following:

Improved Symptoms: Treatment for NF2 effectively addresses symptoms associated with the condition, including vestibular schwannomas and other tumors affecting the nervous system. By managing these symptoms, individuals experience reduced pain, improved function, and enhanced overall well-being.
Enhanced Aesthetics: Surgical interventions such as tumor resection and electrodesiccation techniques can improve the appearance of the affected areas, reducing tumor size and improving skin texture. This process enhances cosmetic outcomes and boosts self-confidence, improving emotional well-being.

Improved Function: Surgical procedures aimed at tumor removal and nerve decompression optimize functional outcomes by alleviating pressure on nerves and restoring normal function. This results in improved mobility, reduced neurological deficits, and a higher quality of life for individuals with NF2.
Emotional Support: Coping with NF2 can be emotionally challenging, impacting self-esteem and mental health. Dr. Panossian and his team provide compassionate care and emotional support, addressing patients' concerns and empowering them to navigate their journey with confidence and resilience.
Comprehensive Care: Dr. Panossian offers personalized treatment plans encompassing surgical interventions, medical management, and follow-up care to address the multifaceted needs of individuals with NF2. This holistic approach ensures patients receive comprehensive care tailored to their unique circumstances, optimizing treatment outcomes and promoting long-term health and well-being.

Why Choose Dr. Panossian?

With over a decade of experience handling neurofibromatosis cases, Dr. Panossian possesses the expertise to address the complexities of NF2, from managing symptoms to providing surgical interventions. Leading with heart, he understands the emotional challenges associated with NF2, offering empathetic support throughout your journey. From the initial consultation to post-treatment care, Dr. Panossian and his team are committed to providing personalized support and guidance throughout your journey. If you reside in Glendale, Pasadena, or the greater Los Angeles area, Dr. Panossian is here to provide the comprehensive care you deserve. Take the first step towards a brighter future by scheduling a consultation with Dr. Panossian today.