Neurofibromatosis In Children – Causes, Symptoms & Treatments

Image : Shutterstock

Is your child complaining about skin rashes or hearing issues? Did the doctor diagnose him with Neurofibromatosis? Are you worried about his health? Well, fret not! Read our post and learn all about the causes, symptoms, and treatments for Neurofibromatosis in children!

What Is Neurofibromatosis?

Neurofibromatosis is a genetic disorder that disturbs the normal cell growth process of the nervous system. The disturbed cell growth may cause tumors develop in the nerve tissues of the spinal cord, nerves or the brain. During early childhood, your child may encounter several symptoms of Neurofibromatosis.

The tumors are non-cancerous, but with prolonged overgrowth and improper treatment they can also turn malignant. If your child suffers from Neurofibromatosis, he may experience learning difficulty, hearing loss, cardiovascular diseases, and even vision loss (1).

[ Read: Symptoms of Cancer in Children ]

Causes Of Neurofibromatosis In Children:

There are three different types of Neurofibromatosis; your child can fall victim to. Each variation attacks your child due to genetic defects that pass through genes or occurs immediately after conception.

Let us check out in details, the causes of different types of Neurofibromatosis in your child:

  • Neurofibromatosis 1 (NF1): The NF1 gene is present in the chromosome 17, and it elevates the production of a protein, neurofibromin. This protein helps in regulation of the cell growth in the nervous system. Mutation of NF1 gene causes loss of this protein, and the cells grow abnormally.
  • Neurofibromatosis 2 (NF2): The NF2 gene is present in the chromosome 22 and handles the production of protein Merlin. Mutation of NF2 causes loss of the protein and leads to uncontrolled cell growth in the nervous system.
  • Schwannomatosis: The SMARCB1 gene present on the 22nd chromosome is the cause of schwannomatosis in your child (2).

[ Read: Types Of Neurocutaneous Syndromes In Children ]

Symptoms Of Neurofibromatosis In Children:

Each of the distinctive types of neurofibromatosis has different signs and symptoms:

Neurofibromatosis 1 (NF1)

This variation of neurofibromatosis is more prone to occur in your child. The visible symptoms of NF1 in children include:

  • Light brown skin rashes
  • Freckling around the armpits
  • Bone deformities
  • Large sized head
  • Tiny bumps appearing on the iris of the eyes
  • Learning or reading disabilities
  • Short height
  • Vision difficulties

[ Read: Muscular Dystrophy In Children ]

Neurofibromatosis 2 (NF2)

Neurofibromatosis 2 (NF2) mostly affects the ears of your children and commonly affects adult:

  • Gradual hearing impairment
  • Ringing sound in the ears
  • Poor balance

In some rare cases, NF2 can also affect the spinal, visual, cranial and the peripheral nerves, and the symptoms experienced are:

  • Severe pain
  • Numbness or weakness in legs or arms
  • Facial drop


Schwannomatosis is the rarest form of neurofibromatosis that rarely occurs in small children. This variation of neurofibromatosis mostly experienced in the adulthood and the tumors developed on the spinal, cranial or peripheral nerves. The neurofibromatosis symptoms in children may include chronic pain in any part of the body (3).

[ Read: Marfan Syndrome In Children ]

Treating Neurofibromatosis In Kids:

  • Surgery: If your child is suffering from Neurofibromatosis that triggers intense, painful conditions, the doctor may recommend the surgical process to remove the tumors.
  • Medication: There is certain medications to reduce the symptoms of pain or headache caused by the growing tumors.
  • Physical therapy: If your child suffers from NF1, physical therapy can help to strengthen his core muscles.
  • Supportive devices: Children with the bone deformity or scoliosis are also recommended to use supportive devices such as spinal brace (4).

With proper treatment, you child can easily recover from Neurofibromatosis and lead a healthy lifestyle.

Did your kid suffer from Neurofibromatosis? What therapies or medications did the doctor prescribe? Have any other ways to deal children with neurofibromatosis?

Share your complete story here!

Recommended Articles:

Was this information helpful?