Do you notice coffee-colored spots or freckles on your baby’s body? Does your dear little one suffer from a skeletal deformity or possess a larger than the average head? If you nodded along, your baby might be suffering from neurofibromatosis. Read our post to get an idea about neurofibromatosis in babies.
What Is Neurofibromatosis?
Neurofibromatosis is a genetic disorder, which affects cell growth and development of a baby’s nervous system. The disorders result in tumor formation in nerve tissues. The tumors can develop anywhere in the baby’s nervous system, including spinal cord, brain, and nerves. Usually, the tumors are non-cancerous but in some babies they can turn malignant (cancerous).
[ Read: Genetic Disorders In Babies ]
Causes Of Neurofibromatosis In Babies:
Neurofibromatosis results due to a genetic mutation that passes from either of the parents or through spontaneous mutation during conception. There are two types of neurofibromatosis NF1 and NF2.
Neurofibromatosis 1 (NF1):
The NF1 gene falls under chromosome 17. The gene generates a protein popular as neurofibromin that regulates cell growth. However, a mutation in the NF1 gene results in neurofibromin loss and leads to uncontrollable cell growth.
Neurofibromatosis 2 (NF2):
A similar mutation occurs in the NF2 gene that falls under chromosome 22. The gene generates a protein, Merlin, which regulates cell growth. Mutation in the NF2 gene results in loss of Merlin leading to an uncontrollable cell growth (1).
[ Read: Common Types Of Birth Defects ]
Neurofibromatosis Symptoms In Babies:
Symptoms of NF1 and NF2 vary to some extent.
Symptoms Of Neurofibromatosis (NF1):
- Light, flat brown spots on the baby’s skin
- The presence of soft bumps on beneath the skin
- Freckles on the baby’s armpits or groin area
- Small bumps on the iris of the baby’s eye
- Larger than average head size
- Bone or skeletal deformities (curved spine or bowed leg)
- Hyperactivity disorder
- Smaller than normal size of babies
Symptoms Of Neurofibromatosis (NF2):
Neurofibromatosis 2 or NF2 is less common than NF1. In NF2, benign tumors grow on the nerves carrying balance and sound data from the inner ear to the baby’s brain. In some cases, the tumors may also grow on spinal, peripheral, cranial, and optic nerves.
- Poor balance
- Ringing in ears
- Loss of hearing
- Facial drop
- Weakness in legs and arms of the baby
- Baby often cries in pain.
- Vision problems (2).
[ Read: Symptoms Of Turner Syndrome In Babies ]
Diagnosing Neurofibromatosis In Babies:
Doctors diagnose neurofibromatosis in babies through monitoring techniques.
- Examining the baby’s skin for neurofibromas or changes in skin.
- Evaluating the growth and development of baby.
- Evaluating skeletal changes and abnormalities.
- Examining the baby’s eye.
[ Read: Down Syndrome In Babies ]
Treating Neurofibromatosis In Babies:
There is no cure for neurofibromatosis in babies. However, the doctors treat the symptoms and signs of neurofibromatosis in babies so that the baby can lead a better and quality life. Treatments include standard cancer therapies or surgical options. Here, we list some common treatments:
1. Cancer Therapies:
Doctors suggest standard cancer therapies to treat malignant tumors, which occur because of neurofibromatosis in babies. Cancer therapies may include radiation therapy, chemotherapy, or surgical procedures (3).
2. Surgical Procedures:
The doctor may suggest surgery to remove the entire or a part of the tumor. If the tumor is malignant, he may have to operate immediately. Malignant tumor cells can invade surrounding tissues and organs. The surgical procedure may include stereotactic radiosurgery, cochlear implants, or auditory brainstem implants. Surgery helps minimize pain, improve hearing ability, and minimizes tumor growth (4).
Did your baby suffer from neurofibromatosis? When did the doctor diagnose it? How did you treat it? Share your experience with other moms here. Leave a comment below.
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