The board-certified and fellowship-trained neurologists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, are the leading providers of care for neurofibromatosis in children from Louisville, Kentucky, and Southern Indiana.

What Is Neurofibromatosis Type I (NF-1)?

Neurofibromatosis is a genetic condition that causes skin abnormalities and tumors to form in areas of the nervous system. These symptoms usually start in childhood.

Symptoms affecting the skin include café au lait spots (flat, pigmented patches), freckles in the armpits and groin, and neurofibromas (benign or nonmalignant tumors that grow on small nerves under the skin).

The eyes can develop Lisch nodules, which are small spots on the iris that do not affect vision, and tumors on the optic nerve called optic gliomas. NF-1 also can affect bones.

Neurofibromatosis Diagnosis

Because NF-1 is a genetic disorder, our team may recommend genetic testing (blood test) if the clinical features point to this disease. Complete neurological and eye exams also may be performed. We may recommend magnetic resonance imaging (MRI) of the brain, optic nerves and spinal cord. We also may recommend X-rays if we suspect changes in the bone.

Neurofibromatosis Treatment

There is no cure for NF-1, but monitoring your child’s disease is important. At checkups, your doctor will evaluate for new neurofibromas or changes in previously identified neurofibromas, check your child’s growth and development, and evaluate for signs of early puberty. Regular eye exams are part of long-term monitoring in NF-1. Surgery rarely is necessary, but may be needed to remove a tumor that is compressing nearby tissue or causing significant pain.

Your child may be referred to the multidisciplinary Norton Children’s Neurofibromatosis Clinic.

Why Norton Children’s Neuroscience Institute?

• The Norton Children’s Hospital Comprehensive Epilepsy Center is a Level 4 epilepsy center, the highest rating available from the National Association of Epilepsy Centers. Norton Children’s Hospital has held this designation since 2013.
• We are the first in Kentucky and among the first in the nation to use neurostimulation in a pediatric patient.
• Regional neurology care is available for children across Kentucky and Southern Indiana. We travel to clinics in Bowling Green, Campbellsville, Corbin, Elizabethtown, Frankfort, Owensboro and Paducah, Kentucky; and Evansville, Indiana. We also perform a number of telemedicine visits each week.
• The specialists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, use state-of-the-art technology to treat epilepsy, uncontrollable seizures and deep brain tumors in children who, in the past, would not be candidates for surgery, including:
  • Visualase: Technology that allows neurosurgeons to perform MRI-guided laser ablation surgery. Fewer than two dozen pediatric hospitals in the U.S. offer this technology.
  • Surgical Theater: Virtual reality technology that creates an immersive 3D view of a patient’s brain, allowing neurosurgeons, the patient and family to see inside the skull and brain to get a greater understanding of the condition and impact of potential procedures. Norton Children’s Hospital is the first hospital in the region to use this technology.
• We offer dedicated multidisciplinary clinics for brain tumors, traumatic brain injuries, spina bifida, craniofacial injuries and disorders, epilepsy, muscular dystrophy, spasticity, headache/migraine, autism and neurocutaneous disorders.
• Our multidisciplinary craniofacial program was the first established in the Midwest.
• We offer a neurogenetics clinic to evaluate and treat children with neurogenetic syndromes.
• We have a neuropsychology program that specializes in the evaluation of children and teens with a variety of neurological, neurodevelopmental and medical conditions, including brain tumors and epilepsy.
• Outpatient neurology facilities in downtown Louisville are equipped with in-office electroencephalography (EEG) capabilities and laboratory services in the same building, creating a streamlined, family-centered environment.
• We offer the region’s first clinic to treat children with immune-mediated neurological disorders.

Leah G. Todd, LCSW

Kelly Jackson, genetic counselor