Best Doctors in India for Neurofibromatosis Treatment

Dr. Sudhir Dubey

Dr. Sudhir Dubey

Spine & Neurosurgeon | Chairman – Endoscopic Portal Minimal Invasive Neurosurgery; Institute of Neurosciences; Medanta – The Medicity, Gurugram | Contact for Appointment & assistance!

View profile, Contact »

Best Hospitals in India for Neurofibromatosis Treatment

Artemis Hospital

Artemis Hospital

Artemis Hospital, Gurgaon | One of the top Super-Specialty Hospitals, Artemis Hospital is often counted among the top 10 Hospitals in India. Artemis serves patients from across the world | Contact for Appointment & assistance!

View page, Contact »
FMRI Gurgaon

Fortis Memorial Research Institute

Fortis Memorial Research Institute, Gurgaon, India | India’s premier Super Specialty Hospital, Fortis is specialized in all general and advanced medical interventions. Fortis serves patients from across the world | Contact for Appointment & assistance!

View page, Contact »
Indraprastha Apollo Hospital

Indraprastha Apollo Hospital

Indraprastha Apollo Hospital, New Delhi | India’s premier Super Specialty Hospital specialized in all general and advanced medical interventions. Apollo serves patients from across the world | Contact for Appointment & assistance!

View page, Contact »
Jaypee Hospital

Jaypee Hospital

Jaypee Hospital, Noida | Jaypee Hospital is one of the largest hospitals in Delhi NCR | Jaypee has good medical team for specialties like Cardiology, Oncology, Orthopedics etc | Contact for Appointment & assistance!

View page, Contact »
Manipal-Hospital

Manipal Hospital

Manipal Hospital is a new and fast growing hospitals in Delhi NCR | Manipal has good medical team for specialties like Oncology, Cardiology and CTVS, Orthopedics etc | Contact for Appointment & assistance!

View page, Contact »
Max Hospital, Saket

Max Super Specialty Hospital

Max Super Specialty Hospital, Saket, New Delhi | India’s premier Super Specialty Hospital, Max New Delhi is specialized in all general and advanced medical interventions. Max serves patients from across the world | Contact for Appointment & assistance

View page, Contact »
Medanta-The Medicity

Medanta-The Medicity

Medanta-The Medicity, Gurgaon | Founded by world-renowned Heart Surgeon, Dr. Naresh Trehan, Medanta has developed to one of the most reputed super-specialty hospitals in India. Medanta today serves patients from across the world for all major ailments | Contact for Appointment & assistance!

View page, Contact »
Narayana-Superspeciality-Hospital

Narayana Superspeciality Hospital

Narayana Superspeciality Hospital is a world-class medical facility which caters to healthcare needs of NCR region. Equipped with world-class medical equipment and infrastructure, it ensures patients of providing a wide range of treatment.

View page, Contact »
psri hospital

PSRI Hospital

Pushpawati Singhania Hospital & Research Institute is a multi-specialty hospital which is well-known nationally and internationally. PSRI hospital is famous for its ambience, quality of care as well as high-level patient satisfaction.

View page, Contact »

Neurofibromatosis

Neurofibromatosis is an incurable genetic disorder that affects the entire nervous system. It can affect the development of nerve cell tissues. It also leads to tumors known as neurofibromas to develop on the nerves, which can lead to various other problems.

In some cases, they might be harmless but they might also cause serious damage if they compress the nerves as well as other tissues.

The disorder is of three types, i.e. Nf1, Nf2 and schwannomatosis, though they are not related.

Symptoms

The symptoms of neurofibromatosis can vary, depending on the type.

The disorder can spread throughout the whole body, causing tumors as well as unusual skin pigmentation. It can manifest as bumps as well, under the skin, colored sports, bone problems, pressure on spinal nerve roots, as well as other neurological problems.

In some cases, patients can also face learning disabilities, behavioral problems, or vision or hearing loss.

NF1 – When this type of neurofibromatosis affects an individual, he/she may show a skin condition but no other related medical problems. Birthmarks and freckles are common as well, among people with this condition. Freckles might appear at an unusual location, such as the groin, under the breasts, or in the armpits. People with this type of neurofibromatosis are also at a higher risk of hypertension or high blood pressure.

NF2 – NF2 is a more serious condition in which tumors grow on nerves deep inside the body. There might be several symptoms such as facial numbness, weakness, paralysis, hearing loss, loss of balance and vertigo, tinnitus, etc.

As the tumor grows, the symptoms might get worse. Tumors may also sometimes develop on the brain, skin, and spinal cord, with potentially serious consequences. Cataracts might also occur, as well as learning disabilities and behavioral problems. Tumor sometimes develops rapidly, but some grow slowly, and the effect might not be noticeable for several years.

Schwannomatosis – It is a rare form of neurofibromatosis, that generally affects less than 1 in 40,000 people. It is generally different from NF1 and NF2. This can cause pain, tingling, numbness, or weakness in the finger and toes.

Causes

The cause of neurofibromatosis is genetic defects or mutations that are either passed on by a parent or occur spontaneously during conception.

NF1- The NF1 gene is located on chromosome 17 and this gene produces a protein termed neurofibromin that helps regulate cell growth. The mutated gene causes a loss of neurofibromin, which allows cells to grow uncontrolled.

NF2- The NF2 gene is located on chromosome 22, and it produces a protein which is termed merlin, also called a schwannomin, which helps in suppressing tumors. The mutated gene can lead to a loss of merlin, lead which can cause uncontrolled cell growth.

Schwannomatosis- Two genes are generally known to cause schwannomatosis. Mutations of the genes SMARCB1 and LZTR1, which helps to suppress tumors, are associated with this type of neurofibromatosis.

Diagnosis

For NF1

Generally, NF1 is normally diagnosed during one’s childhood. A diagnosis is generally confirmed when an individual has at least two of the following:

  • A family history of NF1
  • Lesions in the bone
  • A glioma, or tumor, on the optic nerve, which is mostly without symptoms
  • At least six “café-au-lait” spots which measure over 5 millimeters across in children or 15 millimeters in adolescents or adults
  • Freckling in the armpits, in the groin area, or under the breast
  • At least two Lisch nodules, or small brown spots in the iris
  • Two or more neurofibromas, or one “plexiform”

 

Plexiforms affect around 25 percent of people who have Nf1. Plexiforms are neurofibromas that spread around the large nerves as they grow, which leads to the nerve becoming thick and misshapen. They generally feel like knots or cords under the skin. They can be large as well as painful, and also disfiguring. Plexiform generally start forming during childhood.

A special type of lamp is used to check for any skin marks. Other diagnostic tools that your doctor can use include an X-ray, CT, or MRI scan. A genetic blood test might be required as well.

For NF2

Symptoms of NF2 generally appear around puberty or during adulthood. The most common age of onset is generally between 18 to 24 years.

Diagnosis of NF2 can be made when there is:

  • An acoustic neuroma in one of the ears, along with two or more typical symptoms, such as cataracts, brain tumors, and a family history of the condition
  • Acoustic neuroma along with brain or spinal tumors, which can be detected by an MRI or CT scan
  • An acoustic neuroma in both the ears
  • A faulty gene, which is identifiable through a blood test

 

A person having NF2 will be referred to a neurologist. Hearing and eye tests might also be conducted to check for cataracts, other eye problems, and hearing problems.

Treatment

Since there is no permanent cure for neurofibromatosis, treatments generally focus on the symptoms. Some of the symptoms generally do not need any treatment. Some of the options for treatment can include the following:

  • Surgery for removing problem growths or tumors
  • Treatment which can include chemotherapy or radiation if a tumor has turned malignant, or cancerous
  • Surgery for bone problems, such as scoliosis
  • Therapy which can include physical therapy or counseling
  • Surgery for cataracts
  • Auditory brainstem and cochlear implants
  • Aggressive treatment of pain linked to the condition
  • Stereotactic radiosurgery

Need Help?

Contact us

Thank you!

Hi!
Thanks for for contacting! We will get back to you at the earliest possible.
For quicker response, you may also chat with us using the WhatsApp chat button below the page.
 
Connect on Telegram!