Could you tell me about neurofibromatosis. My daughter has NF1 in her brain, back, and right foot.


Robert Steele

Robert W. Steele, MD, is a board certified pediatrician at St. John's Regional Health Center in Springfield, MO. He graduated from medical... Read more

Neurofibromatosis (NF) is a inherited genetic disorder which causes typical skin and nerve tumors. There are two types of neurofibromatosis called NF-1 and NF-2. These two distinct types of NF are caused by two separate genes, so although they have similar names, they are actually discrete diseases. NF-1 also goes my the name of Von Recklinghausen's Disease named after the doctor who first described it in 1882. It is a dominant genetic disorder which means if either parent has NF, then the child has a 50% chance of getting it. However, at least half of the children with neurofibromatosis get it simply by chance from a rearrangement of the chromosomes that occurs shortly after conception. In other words, most children with NF do not have a parent with NF.

The symptoms of the disease usually begin simply as having birth marks called cafe-au-lait spots. In addition, there may be freckles in unusual areas such as in the arm pits or groin area. However, NF not only affects the skin but the nerves as well. As the children get older (usually not until the teenage years) growths along the nerves of the skin that look like small bumps may appear. These growths can occur anyplace where there are nerves including those of the eyes and brain. Therefore, vision disturbances may eventually occur as well as growths within the brain that can cause learning disabilities and occasionally seizures. In addition, these growths can occur in around bones occasionally causing problems in growth.

Although there is currently no effective treatment for this genetic disorder, there are certainly well established support groups and foundations (established to supply parents with accurate information concerning neurofibromatosis. There are two universal questions parents have about NF. What are the chances of having another child with NF? And, what can expect in the way of intellectual performance in my child? The answer to the first question lies in finding out if the child inherited the genetic disorder or if spontaneously occurred. To determine this, the parents have to be examined and tested for signs of NF. If one parent has it, there is a fifty percent chance of having another child with NF. The answer to the second question is difficult to answer. While children with NF have about a 5 times greater risk of having learning disabilities, there are many who perform quite well in school. In other words, it is difficult to predict the course of the disease. Therefore, careful follow-up with a pediatric neurologist or NF specialty clinic is important.

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