Our Summary

Neurofibromatoses (NF) are a group of genetic disorders that cause tumors to grow in the nervous system. This research paper focuses on the three most common types: NF1, NF2, and NF3.

About half of the people with NF have a family history of the disease, while the other half are the first in their family to have it due to new mutations. There are also some people who have a milder form of the disease where only a few cells are affected.

NF is characterized by skin and nervous system abnormalities, except for NF3, in which the skin and eyes are not affected. These abnormalities often start in childhood or adolescence.

The genetic changes that cause NF are found on certain chromosomes and they result in a defect in genes that normally prevent tumor growth. This leads to an overgrowth of Schwann cells, which are cells that cover nerve fibers. The main feature of NF is the development of tumors on the peripheral nerves, including those in the brain and spinal cord. These tumors can cause pain, sensory and motor deficits, and in some cases, neuropathic pain.

Although the tumors are usually benign and grow slowly, they can cause progressive neurological deficit and loss of function. Treatment can include surgery to decompress nerves, medication, and in some cases, radiotherapy. However, it’s still unclear why some tumors remain stable while others grow rapidly.

People with NF often need long-term care from a team of specialists. They may also suffer from depression due to the risk of losing important functions like vision or hearing. Additionally, at least 50% of people with NF1 show signs of ADHD and other cognitive impairments.

The authors conclude that because NF is a rare disease, it’s important for patients to have access to specialized care centers where they can receive advice on managing their condition. These centers are usually located at university hospitals and are run by a team of specialists including neurosurgeons, neurologists, pediatricians, geneticists, radiologists, ophthalmologists, dermatologists, surgeons, psychologists, psychiatrists, and social workers. They provide a range of treatments and support services, including participation in clinical trials and connection to patient support groups.

FAQs

  1. What are the three most common types of Neurofibromatoses (NF)?
  2. What are the typical symptoms and health complications associated with Neurofibromatoses (NF)?
  3. What types of treatment and support services are typically provided for patients with Neurofibromatoses (NF)?

Doctor’s Tip

A helpful tip a doctor might tell a patient about tumor resection is to make sure to follow post-operative care instructions closely, including any restrictions on physical activity and wound care. It’s important to attend follow-up appointments to monitor recovery and address any concerns. Additionally, maintaining a healthy lifestyle with regular exercise and a balanced diet can help support overall healing and recovery after surgery.

Suitable For

Patients with neurofibromatoses (NF) are typically recommended tumor resection if they have tumors that are causing symptoms such as pain, sensory deficits, motor deficits, or neuropathic pain. Tumor resection may also be recommended if the tumors are growing rapidly or if they are causing progressive neurological deficits. Additionally, tumor resection may be considered if the tumors are affecting important functions such as vision or hearing.

It’s important for patients with NF to receive care from a team of specialists who can provide comprehensive care and support. This can include neurosurgeons, neurologists, pediatricians, geneticists, radiologists, ophthalmologists, dermatologists, surgeons, psychologists, psychiatrists, and social workers. These specialists can work together to develop a treatment plan that is tailored to the individual needs of the patient and can provide ongoing support and monitoring.

Overall, tumor resection may be recommended for patients with NF who have tumors that are causing symptoms or affecting important functions, and it is important for patients to receive care from a multidisciplinary team of specialists who can provide comprehensive care and support.

Timeline

Before tumor resection, a patient with NF may experience symptoms such as pain, sensory and motor deficits, and neuropathic pain due to the growth of tumors on the peripheral nerves. They may also require long-term care from a team of specialists to manage the effects of the disease on their nervous system and overall well-being.

After tumor resection, the patient may experience relief from symptoms such as pain and neurological deficits. However, they may still require ongoing care and monitoring to ensure that the tumors do not regrow or cause further complications. Patients may also benefit from post-operative rehabilitation and support services to help them recover and maintain their quality of life.

What to Ask Your Doctor

Some questions a patient should ask their doctor about tumor resection in the context of neurofibromatoses (NF) include:

  1. What type of tumor resection surgery is recommended for my specific case of NF?
  2. What are the potential risks and complications associated with the tumor resection surgery?
  3. What is the expected outcome of the tumor resection surgery in terms of tumor growth and symptom improvement?
  4. Will I need any additional treatments or therapies after the tumor resection surgery?
  5. How long is the recovery process after tumor resection surgery and what should I expect during this time?
  6. Are there any lifestyle changes or precautions I should take after the tumor resection surgery to prevent tumor regrowth or complications?
  7. Will I need regular follow-up appointments or imaging scans to monitor the status of my tumors after the surgery?
  8. Are there any clinical trials or new treatments available for NF that I should consider participating in?
  9. How can I access support services or resources for managing my NF condition and its impact on my daily life?
  10. Are there any genetic counseling or testing options available for me or my family members to better understand the genetic aspects of NF and our risk of developing the condition?

Reference

Authors: Matthies C, Rampeltshammer E, Breun M. Journal: Fortschr Neurol Psychiatr. 2023 May;91(5):213-232. doi: 10.1055/a-2000-3713. Epub 2023 May 16. PMID: 37192611