Neurofibromatosis afflicts diverse parts of the body, including the brain, nerves, spinal cord, skin, as well as the other body systems. It is characterized by the growth of benign tumors involving the brain and nerves. Some children live almost unaffected, whilst some can be brutally affected.
There are 3 categories of neurofibromatosis — NF1, NF2, and schwannomatosis. NF1 is rather common; afflicting around 1 in 2500 babies. NF2 is rare, afflicting about 1 in 25,000 births.
Signs And Symptoms Of Neurofibromatosis In Babies
- In younger kids usually the first presenting feature is café-au-lait spots on the skin.
- If a child has 5 of these spots or more, which are about ½ inch in diameter your doctor will look for more indications of NF1.
- Freckles in the armpits and groin.
- Neurofibromas i.e. tumors on, under, or hanging off the skin. Neurofibromas develop on various parts of the body, usually before puberty commences.
- Lisch nodules – small, benign lumps on the iris of the eye. Lisch nodules help identify NF1; however, they do not cause any visual problems.
- Some also have bone problems – thinning or overgrowth of the bones in the arms or lower leg or abnormal curving of the spine.
- NF2 is generally diagnosed when the child is a little older. Hearing loss occurs during the teenage period and in the early 20s; and is usually the first symptom, and occurs due to compression by the tumor masses impinging on to the vestibular nerves. The vestibular nerves convey electrical impulses from the ear to the brain, thus facilitating hearing.
- People complain of buzzing and ringing in the ears, facial pain, headache, fatigue and exhaustion, and feeling off-balance.
- Tumors may develop on the lining of the brain – i.e. the meningiomas and on the spinal cord – ependymomas.
Causes of Neurofibromatosis in Babies
Neurofibromatosis 1 and 2 are inherited. Those having NF have a 50 % chance of passing it to each of the offspring. Approximately half the cases of neurofibromatosis are acquired in this way. The other half tend to develop as a result of mutation which happens spontaneously. The genetic material gets altered when the egg fuses with the sperm.
Guidelines For Treatment Of Neurofibromatosis
Managing neurofibromatosis needs a multi-disciplinary approach. Study over the last few past decades has resulted in the invention of new treatments for NF. New therapies are being offered as part of clinical trials to make available better options for the affected people.
Neurofibromatosis cannot be cured; treatments to deal with the signs and symptoms are available.
- Assess the child’s skin for new tumor masses or alterations in the existing ones.
- Keep an eye on the blood pressure.
- Assess the growth and development – weight, height and head circumference in accordance with the growth charts for NF1.
- Keep an eye for when puberty hits.
- Assess skeletal alterations and anomalies.
- Assess his learning and advancement at school.
- Carry out a complete eye exam.
Meet your pediatrician / health care provider without delay in case you perceive changes in the clinical picture between visits. It is very vital to rule out the likelihood of malignancy and to start treatment at an early stage.
Life Expectancy: If there are no complications in the child, the life expectancy of one diagnosed with neurofibromatosis is more or less normal. With the correct education, those having neurofibromatosis can live a normal life.