Neurofibromatosis in Children

What are the signs and symptoms of neurofibromatosis?

Neurofibromatosis symptoms typically appear during childhood. Signs may include:

• Freckles and colored patches on the skin: One of the most common, early signs of NF1 are freckles and light brown patches of skin called café au lait (French for “coffee with milk”) macules. They typically appear under the arms, in the folds of the skin and in the groin. These harmless skin changes may be present at birth or may develop later.
• Small growths on the skin: Small, benign growths called neurofibromas can develop on or just under the skin anywhere on the body. These growths are typically harmless. Other growths called plexiform neurofibromas are larger and can sometimes become cancerous.
• Eye and bone changes: Clumps of pigment can develop in the iris (the colored part) of the eyes. These do not typically affect vision. Some children with NF1 develop optic gliomas — tumors on the optic nerve — that can affect vision.
• Other common effects: Children with NF1 may also have seizures, scoliosis, large head size, learning difficulties, headaches, short stature and high blood pressure.

How do we diagnose neurofibromatosis?

The specialists in our Neurofibromatosis Program use clinical exams to look for symptoms of neurofibromatosis in children. Typically, a child must have at least two common characteristics to receive an NF1 diagnosis. These characteristics include:

• Bone changes
• Freckling
• Neurofibromas or plexiform neurofibromas (skin growths)
• Ocular (eye) changes
• Relative diagnosed with NF1
• Six or more café au lait macules (patches on the skin)

A genetic test can also identify if your child has the gene mutation associated with NF1. This test involves taking a sample of blood and analyzing the DNA to look for the changed NF1 gene. The specialists at our Genetics NF Clinic are experts at analyzing these results and making an accurate diagnosis.

How soon can we expect testing results?

It typically takes about eight weeks to receive genetic test results.

A positive test result means your child has a mutation in the NF1 gene and will develop signs of NF1. We cannot predict what symptoms will develop or when.

How is neurofibromatosis treated?

There is currently no cure for NF1. At Children’s Colorado, our experts work together to follow and care for children with the condition. This multidisciplinary approach allows for customized care plans designed to help relieve your child’s symptoms and give them the best possible quality of life.

We schedule appointments with multiple specialists in one convenient and efficient visit, to quickly identify and treat any problems and to make things easier for your family. Our specialists carefully monitor your child’s development and symptoms with annual blood pressure checks, eye exams and monitoring for growth, development and scoliosis. Depending on individual symptoms and needs, children with NF may receive care from experts in Genetics and Inherited Metabolic Diseases, Pediatric Neuroscience and Cancer and Blood Disorders.

NF care from our Genetics and Inherited Metabolic Diseases Program may include:

• Diagnosis
• Yearly evaluation for related complications
• Discussing and coordinating genetic testing, if needed
• Explaining inheritance chances and risks to other family members

NF care from our Neuroscience Institute may include:

• Monitoring and treatment for neurologic complications of NF1, such as:
  • Headaches
  • Seizures
  • Learning issues
  • Sleep disturbances
  • Dizziness
  • Cranial vascular changes
• Additional diagnostic testing, if needed:
  • Brain scans (MRI)
  • Electroencephalography (EEG)

NF care from our Center for Cancer and Blood Disorders may include:

• Monitoring of plexiform neurofibromas and treatment of plexiforms that are disfiguring, impair function or are associated with pain
• Monitoring and treatment of optic gliomas or other brain tumors associated with an NF1 diagnosis

Why choose us for treatment of neurofibromatosis?

Our NF specialists have decades of combined experience. Every year we treat children from all over Colorado and surrounding states. Our expertise and experience translate to the best possible care for your child, including:

• Specialty clinics: Our clinic coordinator helps determine which clinics are best based on your child’s diagnosis and symptoms. Our specialty clinics include:
  • Genetics NF Clinic: For children with a new or suspected diagnosis who might need annual check-ups
  • NF Multidisciplinary Clinic: For children who see multiple specialists and need complex care
  • Vascular NF Clinic: Serving kids who have vascular complications related to their NF diagnosis
  • Neurology NF Clinic: Specialists for kids who have neurological symptoms like headaches and seizures
  • NF Therapeutics Clinic: Care for kids who have a plexiform neurofibroma or optic glioma
• Partnering with your pediatrician: Our doctors and specialists are not meant to take the place of your child’s local pediatrician. We work with your child’s healthcare team to provide support, advice and advanced care when needed.
• Access to clinical trials: Our patients can participate in cutting-edge clinical trials. These trials give your child the chance to receive advanced treatments that may not yet be available elsewhere.
• The Children’s Tumor Foundation (CTF) is a nonprofit dedicated to improving research and care for kids with neurofibromatosis. As part of that work, CTF created a designation system that evaluates and categorizes programs to help patients and care teams find the best care for their needs. CTF designated Children’s Colorado as a Comprehensive Center — its highest designation — meaning the team meets all care needs for patients with neurofibromatosis. 

Helpful resources

• Children's Tumor Foundation offers information about life with NF and research funding.
• GeneTests Medical Genetics Information provides information about genetic conditions and links to support information.
• Neurofibromatosis Network is an advocacy group that supports NF research.
• National Institute of Neurological Disorders and Stroke provides medical information about the condition.

Contact the Neurofibromatosis Program

Your child’s pediatrician can send a referral to the NF Program via fax at 720-777-7974; Attn: Genetics.

For new patients with questions or wishing to make an appointment, call 720-777-4532 or email nfclinic@childrenscolorado.org

Established patients with specific concerns can contact the following departments directly:

• Neurology/Neuropsychology: 720-777-6895
• Genetics:  
  720-777-0
  020
• Neurotherapeutics: 720-777-9568
• The Eye Clinic: 720-777-2020
• Orthopedics: 720-777-6600