Neurofibromatosis

Norton Children’s board-certified and fellowship-trained neurologists are the leading providers of neurofibromatosis care in Louisville, Kentucky and Southern Indiana.

Norton Children’s Hospital is the pediatric teaching hospital for the University of Louisville School of Medicine. Our physicians have expertise in their fields and are training the next generation of pediatric specialists.

We will determine the severity of your child’s neurofibromatosis and create a treatment plan that minimizes risk, so your child can get back to being a kid.

What Is Neurofibromatosis Type I (Nf-1)

Neurofibromatosis is a genetic condition that causes skin abnormalities and tumors to form in areas if 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 can also affect bones.

Diagnosis

Because NF-1 is a genetic disorder, our team may recommend genetic testing (blood test) if the clinical features are suspicious for this disease. Complete neurologic and eye exams also are important. Team members also may recommend imaging studies (MRI) to look at 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 is rarely necessary to remove a tumor that is compressing nearby tissue or causing significant pain


*University of Louisville Multidisciplinary Tuberous Sclerosis Clinic

Arpita Lakhotia, M.D.
Sushil Gupta, M.D.
Leah Todd, social worker

Kelly Jackson, genetic counselor

Neuroscience

Contact Us

Connect to the Norton Children’s Hospital Neurology team
(502) 588-3650

Connect with Norton Children’s Neurosurgery team
(502) 583-1697

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