Neurofibromatosis type 2 (NF2) is a genetic disorder that causes the growth of benign tumors in nerve tissue in the brain, spinal cord, and nerve cells. Vestibular schwanoma or acoustic neuroma is a benign tumor that often arises as a result of neurofibromatosis type 2.
Neurofibromatosis type 2 is a less common condition than neurofibromatosis type 1. NF2 usually occurs in one in every 25,000 births. Symptoms of neurofibromatosis type 2 will usually begin to appear in young adulthood, around the age of 20. Symptoms that often appear, namely hearing loss, ringing in the ears, and balance disorders.
Reason Neurofibromatosis Type 2
Neurofibromatosis type 2 is caused by a genetic abnormality on chromosome 22 or the NF2 gene. This genetic abnormality (mutation) results in disturbances in the production of the protein merlin. This further leads to uncontrolled growth of nerve cells.
The exact cause of this gene mutation is not known. However, children whose fathers or mothers have neurofibromatosis type 2 have a 50% risk of developing the disorder.
This disorder can also occur randomly without a family history of NF2. This condition is called Mosaic NF2. child with Mosaic NF2 generally have milder symptoms.
Symptoms of Neurofibromatosis Type 2
Neurofibromatosis type 2 (NF2) will cause the growth of benign tumors on nerve cells. Tumor growth can occur in any nerve. There are several types of tumors that can arise due to NF 2, namely:
- Acoustic neuroma, which is a benign tumor that grows on the nerve connecting the ear and brain
- Gliomas includeependymomas, namely tumors that grow on glial cells in the brain and spinal cord
- Meningiomas are tumors that grow in the meninges (protective membranes) that surround the brain and spine
- Schwannoma, which is a tumor that arises in the cells that cover nerve cells
Although symptoms and complaints are more common in young adults, neurofibromatosis type 2 can also cause: juvenile cortical cataract, namely cataracts that appear in children.
Complaints that arise will depend on where the tumor grows. However, in general, some of the symptoms or complaints that often indicate NF2 are:
- Tinnitus
- Balance disorders
- Hearing disorders
- Visual disturbances and glaucoma
- Memory impairment
- Numbness in the face, arms or legs
- Seizures
- Vertigo
- Swallowing disorders
- Articulation when speaking becomes less clear
- Bumps appear under the skin
- Pain due to peripheral neuropathy
- Back pain
When to go to the doctor
Check with your doctor if you experience any of the symptoms of neurofibromatosis type 2 mentioned above. Early detection and treatment is expected to prevent the development of tumors and complications due to NF2.
Diagnosis Neurofibromatosis Type 2
The doctor will ask about the patient's symptoms, medical history, and a family history of neurofibromatosis type 2. After that, the doctor will perform a neurological examination, ear examination, and eye examination. To confirm the diagnosis, the doctor will perform supporting examinations in the form of:
- Scans with an MRI or CT scan, to detect a schwannoma, acoustic neuroma, meningioma, or glioma
- Genetic testing, to determine whether there is a gene mutation
If you or your partner suffers from neurofibromatosis type 2, genetic testing can also be done since the child is in the womb. This aims to determine whether neurofibromatosis type 2 is passed on to the fetus.
Treatment Neurofibromatosis Type 2
Neurofibromatosis type 2 cannot be cured. Treatment will be adjusted to the symptoms and complaints that arise. Some of the treatment steps that will be carried out by the doctor are:
Observation
The doctor will make observations or routine observations. This is done to determine the development of tumors that grow when experiencing neurofibromatosis type 2. If complaints or symptoms appear during observation, the doctor will perform therapy according to the condition.
During the observation, the doctor will perform regular MRI scans to see tumor growth as well as regular eye and ear examinations.
Physiotherapy
Physiotherapy performed on neurofibromatosis type 2 will be adjusted to the disorders or complaints experienced by the patient. For example, if the patient has hearing loss, therapy will be carried out to train how to communicate with other people, it could be by teaching sign language.
If the NF2 patient has ringing in the ears or tinnitus, this will be done tinnitus retraining therapy. This therapy aims to train and make the sufferer adapt to ringing in the ear.
Hearing aid installation
Patients with neurofibromatosis type 2 often experience hearing loss and even hearing loss, so hearing aids or hearing implants are needed. There are 2 types of hearing implants that can be used, namely cochlear implants or auditory brainstem implant.
Operation
Surgery is performed to remove tumors or treat cataracts, so as to prevent complications.
Radiotherapy
This procedure is done with the help of X-ray energy to remove the tumor.
Drugs
Medications can be given to relieve complaints and symptoms. If there is pain, the doctor will give pain medication.
Complications of Neurofibromatosis Type 2
If not treated immediately, neurofibromatosis type 2 can cause complications such as:
- Permanent hearing loss and deafness
- Facial nerve damage
- Visual disturbance
- Numb
Prevention of Neurofibromatosis Type 2
Neurofibromatosis type 2 is a genetic disorder that is difficult or even impossible to prevent. Doing genetic screening when planning a pregnancy can be done to determine the risk of genetic disorders in offspring.
If you have been diagnosed with neurofibromatosis type 2, follow the advice and therapy given by your doctor. Also do the control according to the schedule given so that your condition is monitored.
