NF2 (MERLIN)

Last Updated: 02/16/17

Neurofibromatosis Type II (NF2) is a rare Autosomal Dominant, Neurological, and Neurodegenerative condition which results in slow growing typically Benign (noncancerous) tumors, primarily located in the Central Nerve System (CNS); brain and spinal cord. NF2 typically can cause numerous issues during an individual's lifetime, not all issues are tumor related. There is no cure for NF2, treatment options are poor and limited.


1. Introduction

Neurofibromatosis Type II (NF2), also known as MERLIN derived by the Moesin-Ezrin-Radixin-Like Protein either missing or nonfunctional protein that causes NF2 tumor growth which is also sometimes referred to as Schwannomin is also sometimes referred to as either MISME Syndrome (Multiple Inherited Schwannoma, Meningioma and Ependymoma), or Bilateral Acoustic NF (BAN), is a genetic condition inherited in an Autosomal Dominant fashion. It affects an individual throughout the course of their life.

Neurofibromatosis Type II (NF2) is a rare Autosomal Dominant, Neurological, and Neurodegenerative condition which results in slow growing typically Benign (noncancerous) tumors, primarily located in the Central Nerve System (CNS); brain and spinal cord. NF2 typically can cause numerous issues during an individual's lifetime, not all issues are tumor related. Tumors can occur in other parts of the body not just the CNS, including Peripheral Nerve System (PNS); arms, legs and other regions of the body, but still along nerves. PNS tumors can include tumors that can be seen as firm bumps under the skin. NF2 tumors can result in different forms of nerve, brain and body damage. NF2 is a Neurological disorder, eye issues are also a common occurrence; some are unrelated to tumor nerve damage, like Juvenile Cataracts.

There is no cure for NF2. A Cure for NF2 would need to be a treatment that would be required to; 1) permanently stop tumor growth, 2) guarantee additional tumors will not grow, or 3) to destroy all of what might be potentially hundreds of tumors an individual with NF2 may have. Treatment options available can only help treat one tumor at a time. Surgery to completely remove a tumor, for individual tumor management is the only way to guarantee a tumor will do no more damage.

While NF2 is genetic disorder, many instances of it are people born with it as a result of Spontaneous Mutation and since NF2 is rare it makes it difficult for early intervention of issues, which can result in serious consequences of wrong treatment choices including surgery for tumors at large sizes where surgery while a tumor was smaller or intervention to delay tumor growth could have minimized nerve damage or otherwise delayed loss of nerve function.

Tumor growth is due to different issues, but exactly how NF2 effects each individual can vary depending on an individual's exact mutation type. Other variables, such as environmental might also be responsible and additional research is necessary to understand the precise causes of increased growth.

2. Health Issues

Many NF2 issues are the result of tumor growth and the treatments to manage growth, the exception on this are some of the eye issues that can develop.

1. Typical Minimum Issues

1.1. Tumor Development: Tumors Types and Change

NF2 tumor types can include; Schwannoma, Meningioma, Ependymoma and Astrocytomas, risk of two to hundreds of tumors.

NF2 tumors are typically slow growing typically Benign (noncancerous) tumors, primarily located in the Central Nerve System (CNS); brain and spinal cord. Tumor growth typically can cause numerous issues during an individual's lifetime. Tumors can also occur in other parts of the body, in Peripheral Nerve System (PNS), such as arms, legs and other regions of the body, but still along nerves, some of which can be seen as bumps, firm under the skin. These tumors can result in different forms of nerve, brain and body damage. Damaged development depends on actual location of growth for each individual tumor. Therefore people with NF2 do not always face the same medical issues, even in the same family.

1.2. Hearing Loss / Deafness and Poor Balance

The most common tumors seen in NF2 are the hallmark Vestibular Schwannoma (VS), formerly known as Acoustic Neuroma (AN); these are tumors that grow on the 8th Cranial Nerve in the brain, typically along the Vestibular Nerve branch which is the balance nerve.

1.3. Tinnitus

Tinnitus is a phantom sound people start to hear when hearing loss develops. Once it starts, it does not go completely away, but things can be done to make it manageable or worse.

1.4. Headaches

There are different headaches a person can have. Brain tumors can result in more frequent occurrence of these. Headache types include; 1) Migraines - Typical and Ocular (Retinal migraine), 2) Cluster, 3) Tension, and 4) Sinus headaches. Some of these can be used to indicate brain tumor issues.

2. Other Common Issues

Note: Before reading further, it is possible issues mentioned after this pointwill not occur. Particularly in individuals who have Mosaic NF2, first generation mild.

2.1. Eye Problems including Vision Issues

Anyone with NF2 should see a Neuro-Ophthalmologist who is familiar with NF yearly for optic neurological issues that can develop. A Neuro-Ophthalmologist is a physician (Neurologist or Ophthalmologist), specializing in diseases affecting vision that originate from the nervous system. It is not that an Ophthalmologist would not be familiar enough with some of the neurological issues that are a result of NF, but tests that need to be done and reviewed require seeing a Neuro-Ophthalmologist, including but not limited to the review of actual MRI scans.

NF2 can result in a variety of eye issues that can result in; poor vision, temporary blindness, or permanent blindness. The most common issue is for NF2 children to have Juvenile Cataracts.

2.2. CN7: Facial Nerve Damage

Vestibular Schwannoma, are Schwannoma tumors along Cranial Nerve 8, are an issue that develops in many individuals with NF2. Cranial Nerve 8 travels a similar path as Cranial Nerve 7, the Facial Nerve, extending out of the brainstem right next to each other. The purpose of CN8 is hearing and balance. Individuals who develop Vestibular Schwannoma commonly develop damage to the Facial Nerve; also known as Facial Nerve damage, or Facial Paralysis. Facial nerve damage issues, Eyes, Eating, Speech, Appearance, Saliva, Tooth Decay and/or Dry Mouth

Individuals with any form of face weakness should also review Trigeminal Neuralgia, as issues are similar but associated with Cranial Nerve 5.

2.3. Treatment Side Effects

Some issues a person with NF2 can be from attempts to manage NF2 issues. Pills in any form can have side effects, just as much as surgery, radiation / radiosurgery or chemotherapies.

An overlooked concern is also when alternative treatments are used that were not a part of a long-term study to learn side effects, particularly when taken at higher doses than commonly used. Another issue with these is few people are aware the risk they face with these because the Food and Drug Administration (FDA), does not monitor if supplements from bottle to bottle and brand to brand do in fact contain what the bottle suggests.

Most unseen dangers are from commonly used Over the Counter (OTC) medications and prescriptions individuals with NF2 might need to take more frequently than the average person.

2.4. Aid in Nerve Damage Recovery

Tumor pressure starting development of nerve damage or after a nerve is damaged for different reasons.

2.5. Poor Immune System

Development of tumor and tumor treatment cause 1) Nerve Damage which in turn results in a 2) Low Immune System. Nerve damage can take a long time to heal, and nerves do not always heal completely, particularly Cranial Nerves, nerves in the brain. During any form of injury, like nerve damage, the Immune Systems response is to immediately fight the damaged area, this makes it more complicated for the body to also fight protect against condition and germs. Not only does Vitamin B12 help create new cells for healing of nerve damage, it also helps aids the immune system.

2.6. Pain: Physical and Emotional

Migraines are headaches that cause intense throbbing or a pulsing sensation, nausea, vomiting, and extreme sensitivity to light and sound. Migraines can cause significant pain for hours to days.

It cannot be said for certain if the Anxiety and Depression many with NF2 experience is from constant health concern, or health related like stress that is often caused by Tinnitus or is as is possible for induvial with Peripheral Neuropathy. Once health issues for NF2 start, the issues are impossible to be forgotten by the individual as NF2 effects connection to the environment due to hearing loss and eye issues.


3. Possible Issues

Many with NF2 only develop Vestibular tumors and if managed with surgical treatment before the tumor results in pressure to the brainstem, additional issues included in this section are unlikely.

3.1. Cerebrospinal-Fluid Flow (CSF) Issues

CSF is clear and colorless fluid that needs to continuously move through a membrane that surrounds the Central Nervous System; brain and spinal cord. Constant CSF movement from brain to spinal cord needs to remain constant.

Tumor growth can result in issues with the necessary flow of Cerebrospinal Fluid (CSF) from the brain into the spine. There are two forms of Cerebrospinal-Fluid flow issues that might develop; Intracranial Pressure also known as Obstructive Hydrocephalus and CSF Leak also known as Intracranial Hypotension.

3.2. Kidney Failure: Also Known As - Renal Failure

The kidneys are a pair of vital organs that perform many functions to keep the blood clean and chemically balanced. It is easier to maintain healthy kidneys then it is to recover from poor kidney health.

3.3. CN5: Trigeminal Neuralgia

Trigeminal Neuralgia, damage to CN5, is often confused with damage to CN7, the Facial Nerve. The Facial Nerve only controls movement, feeling in the face which is the function of Cranial Nerve 5, the Trigeminal Nerve.

3.4. CN10: Vagus Nerve: Swallowing Difficulties

Cranial Nerve 10 is the Vagus Nerve. Swallowing difficulties are typically the first signs there are problems with this nerve, however this nerve controls much more.  It must be watched and handled properly if it shows signs of weakness.
Functions of the Vagus Nerve includes

  • Muscle Control: Muscle control heart rate, sweating, esophagus and digestion, as well as many involuntary muscle movements in the mouth, including speech and breathing.
  • Sensory Control: Feeling in the ear canal.
3.5. Additional Cranial Nerve Damage

For individuals with NF2, tumors are expected to grow on Cranial Nerve 8 (CN 8) the Vestibulocochlear Nerve, which controls hearing and balance. It is not uncommon for tumors on CN 8, to also damage CN 7 the Facial Nerve. Tumors also commonly grow on; CN 2 the Optic Nerve, CN 5 the Trigeminal Nerve, and CN 10 the Vagus Nerve. However; it is possible for tumors to grow and damage any other cranial nerves as well.

There are 12 pairs of nerves in the Central Nerve System, a left and a right nerve for each. Some control muscles and others control senses.

3.6. Brain Injury

Brain Injury, or Brain Trauma issues / Cognitive Issues are damaged regions or regions of the brain that simply do not function properly for some reason. People with NF2 are at risk to potentially develop these issues as the result of brain trauma from fast changing tumors, surgery, or radiation / radiotherapy treatments.

Cognitive issues from tumor growth can be temporary particularly if the result of tumor growth or surgery. Cognitive issues are more likely to not recover following radiation / radiotherapy treatments, particularly when used as a treatment for younger individuals.

3.7. Epilepsy / Seizures.

Epilepsy is a brain condition in which a person has repeated Seizures over time. Seizures are episodes of disturbed brain activity that cause changes in temporary attention or behavior. A person is considered Epileptic (to have Epilepsy); if more than one Seizure occurs.

Epilepsy occurs when permanent changes in the brain cause it to be irregular with respect to neuronal activity. As a result, the brain sends out abnormal signals. This leads to repeated, unpredictable Seizures. A single Seizure that does not happen again is not Epilepsy.

3.8. Strokes - Aneurysm, Embolism or Transient Ischemic Attack (TIA)

As a result of tumor growth, individuals with NF2 are at risk of having Strokes. A stroke is a "brain attack". It can happen to anyone at any time. It occurs when blood flow to an area of brain is cut off. When this happens, brain cells are deprived of oxygen and begin to die. When brain cells die during a stroke, abilities controlled by that area of the brain such as memory and muscle control are lost.

Strokes can be the result of damage to an Artery as a result of; 1) Diabetes, 2) High Blood Pressure, or 3) Lesion Growth – The damage could be on an artery, inside an artery, or pressing on an Artery. NF2 brain tumors also known as Lesions are primarily either; Schwannoma or Meningioma; these tumors can compromise Arteries in the brain and can cause damage of any of the three Stroke types.

3.9. Spinal Cord and Body
  1. Spinal Cord and Peripheral Nerves
    • Peripheral Nerve Issues
    • Radiculopathy
    • Peripheral Neuropathy
  2. Vertebrae Damage
    • Scoliosis
    • Ketosis
  3. Mobility Issues
    • Paraplegia: damage to part of the spine and body
    • Tetraplegia (Quadriplegia): damage to top and therefore complete spine and body.
    • Hemiplegia
    • Diplopia
    • Drop Foot / Foot Drop
3.10. Skin Irregularities: Café-au-lait Spots and Skin Tags

Café-au-lait Spots also known as Café-au-lait Macules (CALMS), are irregularities of the skin that could cover a 1 inch area. These are not painful; they are simply a discoloration of the skin. Individuals with NF2, who have CALMS, usually have fewer than six. CALMS can also fade over time.


3. Tumor Treatments

There is no treatment to stop and destroy all tumors an individual might develop as a result of NF2. While tumors are typically slow growing and benign, surgical or radiation / radiosurgery intervention methods for individual tumor care. Not every tumor that grows will need medical management other than observation. Surgery today is not dangerous as it was years ago, and should be considered as primary treatment for NF2 tumors when Watch and Wait is no longer an option.

If you require help with surgical management of Vestibular Schwannoma, NF2 Information and Services recommends you speak with the National Institute of Health (NIH), who will at the very least help by reviewing MRI's for recommendations of treatment options.

4. Genetics

NF2 is a genetic Autosomal Dominant condition. A child can be afflicted with NF2 in one of two ways. He or she can 1) Inherit NF2 from a mother or father who has NF2, or NF2 can be initiated by 2) Spontaneous Mutation. NF2 is not a disease that can be spread or caught, symptom may be seen later in life, but development of NF2 is done so before birth.

5. Diagnosis

The earlier the diagnosis of NF2 is made the easier it will be to manage NF2 issues. Once diagnosed with NF2, doctors can begin to monitor issues an individual may be having with Neurological Exams and MRIs and can help look for options to slow down tumor development.

6. Family Planning

Family planning and birth control is not just prevention of pregnancy, but considering advantages and disadvantages of natural and alternative options to become a pregnant. Knowledge of advantages and disadvantages are important since there are dangers to mothers with NF2, not just the potential child to know about.

Sometimes the issues to the child can even be more than just development of stronger case of NF2 than their parent. There are options for all of these situations where planning to wait for things like medication breaks are possible.

7. NF2 Information & Services Request

NF2 Information and Services pages are meant to be shared with doctors and others with NF2 in hopes to help more people.

8. Sources

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