What is Neurofibromatosis Type 1?
- It is a genetic disorder
- The patient can develop multiple benign (non cancerous) tumors of nerve tissue called neurofibromas.
- It can cause changes in the skin and bone.
Our child has neurofibromatosis (ner-oh-fye-BROH-muh-TOE-sis), but we as parents don’t. How is that possible?
- A parent with NF1 (with one copy of the defective gene) has a 50% chance of passing the disease to their children.
- But more than half of people affected with NF1 do not have parents with NF1. This is because new genetic mutations can occur spontaneously during conception.
What is the most common type of neurofibromatosis?
- There are 3 types.
- Neurofibromatosis type 1, the most common type (1 of every 3000 births)
- Neurofibromatosis type 2 is rarer (1 in 25000). NF1 cannot become NF2 or other way around.
What are the symptoms of neurofibromatosis type I?
- most newborns have no symptoms
- coffee-coloured brown patches on the skin called cafe-au-lait spots might appear within one year
- soft, fleshy, benign growths under the skin called neurofibromas. These often appear in late childhood or adolescence. May become more prevalent with age.
- freckling in armpits and groin
- very small growths on the irises of the eye called Lisch nodules
- curved spine (scoliosis)
Is NF1 curable?
- At present, no curative treatment is available.
- Specific treatments may control symptoms
- Disfiguring or painful tumors can be removed, but they may grow back
- Surgery can help with bone abnormalities, like scoliosis
What are the effects of neurofibromatosis on bone and the spine?
- Bone in the spine becomes distorted and weak. Due to this, the spine can start bending into a curve, called scoliosis, or forward angulation of the back, called kyphosis. Scoliosis and kyphosis can occur together or separately in about one in five people with NF1.
- The protective covering over the spinal cord is called the dura. There is a ballooning of the dural sac, called dural ectasia, that causes erosion of the surrounding bone and the spine.
- Sometimes, tumors (neurofibromas) grow around the spinal cord and cause compression of the nerves. this can cause pain and weakness in severe cases.
What is the fate of scoliosis or spinal deformity in patients with neurofibromatosis?
- Children with neurofibromatosis type I develop one of two forms of scoliosis, dystrophic or non-dystrophic scoliosis.
- Non-dystrophic scoliosis behaves similarly to the “typical” adolescent idiopathic scoliosis,
- Dystrophic scoliosis is more problematic. They occur due to bony changes related to neurofibromas affecting the spine. Curves tend to be severe, and sharply angulated and they are rapidly progressive.
- Sometimes non-dystrophic scoliosis can become a dystrophic type with time (modulation). Hence, it is important to keep them under observation.
What will happen if dystrophic scoliosis/kyphosis is allowed to get worse?
- Dystrophic curves behave badly (which means they are almost always progressive with time)
- They can become very large. 100+ degree curves will compromise the internal organs including the lungs and the heart.
- Sometimes the spinal cord gets stretched inside these large curves causing neurological symptoms, like numbness, weakness, and rarely paralysis.
What are the treatment options for progressive dystrophic scoliosis/kyphosis in NF1?
- Treatment for scoliosis in NF1 is challenging, particularly when dystrophic scoliosis is present.
- Surgery is the only definitive means of stopping curve progression.
Do and Don’ts in managing Scoliosis due to NF1
- Do find doctors and hospitals that have experience with NF1 and scoliosis. Effective treatment requires the knowledge and skill of an experienced team who specializes in scoliosis treatment.
- Do call your doctor if you have new neurological symptoms (muscle weakness, loss of balance, numbness)
- Don’t ignore or neglect progressive spinal curves. It is much easier to treat them when they are small. Large curves are risky to treat.
- Don’t be afraid to ask for a second opinion from those who surgically treat these curves.
- Don’t forget that NF1 is rare and will need a team approach for management
- http://www.nfinc.org (neurofibormatosis, Inc.)
- http://www.neurofibromatosis.org (National Neurofibromatosis foundation, Inc.)
10-year-old boy with NF1 dystrophic scoliosis
This is a 10-year-old boy with neurofibromatosis involving his spine. The curve was progressive and had reached almost 70°. Dr. Chaudhary and his team performed a corrective surgery (fusion). He has done very well following his operation which was 8 years ago.