Definition for Congenital neurofibromatosis
From Biology Forums Dictionary
Neurofibromatosis is a type of neurocutaneous syndrome that affects about 100,000 people in the United States. The diagnosis of neurofibromatosis Type I is often made based on the clinical findings of the cafe-au-lait spots and axillary or inguinal freckling. A CT or MRI will likely also be done to look for neurofibromas and you may need to see a Pediatric Ophthalmologist to look for Lisch nodules and make sure your child doesn't have an optic glioma.
Since symptoms don't always appear all at once, some children are simply observed to see if more symptoms will develop over time when they are thought to have neurofibromatosis.
Children with neurofibromatosis Type II are often diagnosed when they are young adults, when they might complain of hearing loss or ringing in their ears.
Testing is sometimes possible in specialized labs, but has a high false negative rate, meaning that it is often negative, even when a child has neurofibromatosis.