Neurofibromatosis Overview and Treatment Options
Know about the neurofibromatosis, what it is, causes, symptoms, diagnosis and treatment options for the neurofibromatosis and more.
Introduction
Neurofibromatosis (NF) is a genetic disorder that causes tumours to form on nerve tissue. These tumours can develop anywhere in the nervous system, including the brain, spinal cord, and nerves. While NF is not contagious, it can affect people differently; some may have mild symptoms, while others may experience more severe complications.
If you or a loved one has been diagnosed with NF, it’s natural to have questions and concerns. This article will help you understand the condition, its symptoms, causes, and available treatment options in simple terms.
What Is Neurofibromatosis?
Neurofibromatosis is a group of three genetic conditions:
1. Neurofibromatosis Type 1 (NF1) – The most common type, often diagnosed in childhood.
2. Neurofibromatosis Type 2 (NF2) – Less common, usually affecting hearing and balance due to tumours on the auditory nerves.
3. Schwannomatosis – A rare form that causes painful nerve tumours (schwannomas) but does not affect hearing.
Most cases are inherited, but sometimes NF occurs due to a spontaneous genetic mutation with no family history.
Consult a Neurologist for Personalised Advice
Common Symptoms of Neurofibromatosis
Symptoms vary depending on the type of NF, but here’s what to look for:
Neurofibromatosis Type 1 (NF1) Symptoms:
• Light brown spots on the skin (café-au-lait spots)
• Freckling in the armpits or groin
• Small, soft bumps under or on the skin (neurofibromas)
• Bone deformities (such as a curved spine)
• Learning disabilities or developmental delays
• Vision problems due to tumours on the optic nerve
Neurofibromatosis Type 2 (NF2) Symptoms:
• Hearing loss or ringing in the ears (tinnitus)
• Balance problems due to inner ear tumours
• Facial weakness or numbness
• Headaches or seizures (if tumours press on the brain)
Schwannomatosis Symptoms:
• Chronic pain (often in the back, arms, or legs)
• Muscle weakness
• Numbness or tingling
If you notice any of these signs, consult a doctor for proper evaluation.
What Causes Neurofibromatosis?
NF is caused by mutations in specific genes:
• NF1 – Mutation in the NF1 gene
• NF2 – Mutation in the NF2 gene
• Schwannomatosis – Linked to mutations in the SMARCB1 or LZTR1 genes
These mutations prevent the genes from producing proteins that control cell growth, leading to tumour formation.
How Is Neurofibromatosis Diagnosed?
Doctors use different methods to diagnose NF, including:
• Physical examination (checking for skin spots or tumours)
• Eye exam (to detect optic nerve tumours)
• Hearing and balance tests (for NF2)
• MRI or CT scans (to locate tumours in the brain or spine)
• Genetic testing (to confirm the diagnosis)
Early diagnosis helps in managing symptoms effectively.
Treatment Options for Neurofibromatosis
While there is no cure for NF, treatments focus on managing symptoms and preventing complications. Options include:
1. Monitoring and Regular Check-ups
• Routine MRI scans to track tumour growth
• Annual eye and hearing tests
• Developmental assessments in children
2. Medications
• Pain relievers for schwannomatosis
• Drugs to shrink tumours (e.g., selumetinib for NF1-related tumours)
3. Surgery
• Removal of painful or dangerous tumours
• Hearing restoration procedures (like cochlear implants for NF2)
4. Therapies
• Physical therapy for muscle weakness
• Speech therapy if the facial nerves are affected
• Counselling for emotional support
5. Lifestyle and Self-Care Tips
• Healthy diet – Supports overall nerve health.
• Exercise – Helps maintain mobility and strength.
• Sun protection – Café-au-lait spots may darken with sun exposure.
• Stress management – Meditation or support groups can help cope with chronic pain.
When to See a Doctor?
Seek medical advice if you or your child has:
• Unexplained pain or numbness
• Sudden hearing loss
• Vision changes
• New lumps under the skin
Early intervention can improve quality of life.
Final Thoughts
Living with neurofibromatosis can be challenging, but with proper care and support, many people lead fulfilling lives. If you have concerns about NF, don’t hesitate to reach out to a healthcare provider. Early diagnosis and treatment make a big difference.
Consult a Neurologist for Personalised Advice
Consult a Neurologist for Personalised Advice
Dr. Aditendraditya Singh Bhati
Neurosurgeon
18 Years • MBBS(2004), DNB Neurosurgery(2014); MNAMS; Fellow Neuroendoscopy
Delhi
Apollo Hospitals Indraprastha, Delhi
(100+ Patients)
Dr. Ganeshgouda Majigoudra
Neurologist
10 Years • MBBS, MD ( GENERAL MEDICINE) DM (NEUROLOGY)
Bengaluru
Apollo Clinic, JP nagar, Bengaluru
Dr. Sarthak Mehta
Neurologist
6 Years • MBBS , MS Mch ( Neuro )
Bengaluru
Apollo Clinic, JP nagar, Bengaluru
Dr. E Prabhakar Sastry
General Physician/ Internal Medicine Specialist
40 Years • MD(Internal Medicine)
Manikonda Jagir
Apollo Clinic, Manikonda, Manikonda Jagir
(125+ Patients)
Dr Rajashekar Mummadi
Neurologist
3 Years • MBBS, DNB General Medicine, DRNB Neurology
Hyderabad
Dr Ram's Neuro Clinic, Hyderabad
Consult a Neurologist for Personalised Advice
Dr. Aditendraditya Singh Bhati
Neurosurgeon
18 Years • MBBS(2004), DNB Neurosurgery(2014); MNAMS; Fellow Neuroendoscopy
Delhi
Apollo Hospitals Indraprastha, Delhi
(100+ Patients)
Dr. Ganeshgouda Majigoudra
Neurologist
10 Years • MBBS, MD ( GENERAL MEDICINE) DM (NEUROLOGY)
Bengaluru
Apollo Clinic, JP nagar, Bengaluru
Dr. Sarthak Mehta
Neurologist
6 Years • MBBS , MS Mch ( Neuro )
Bengaluru
Apollo Clinic, JP nagar, Bengaluru
Dr. E Prabhakar Sastry
General Physician/ Internal Medicine Specialist
40 Years • MD(Internal Medicine)
Manikonda Jagir
Apollo Clinic, Manikonda, Manikonda Jagir
(125+ Patients)
Dr Rajashekar Mummadi
Neurologist
3 Years • MBBS, DNB General Medicine, DRNB Neurology
Hyderabad
Dr Ram's Neuro Clinic, Hyderabad