Neurofibromatosis Clinic

Neurofibromatosis Clinic

Comprehensive Multidisciplinary Care for Patients with Neurofibromatosis (NF)

The neurofibromatosis are a group of genetic disorders, each having specific symptoms. There are 3 distinct forms:

  • Neurofibromatosis type 1 (NF-1)
  • Neurofibromatosis type 2 (NF-2)
  • Schwannomatosis

All of these entities cause tumors on the brain and nerves throughout the body. These tumors are non-cancerous most of the time; however, they could become cancerous in some cases. Therefore, early diagnosis is critical. If needed, state of the art care can be provided to patients suffering from these disorders.

About Us 

Dell Children’s Neurofibromatosis Clinic has a dedicated team of medical experts in different medical areas affected by neurofibromatosis. Our team includes: Neurology, Ophthalmology, Genetics, Cardiology, Oncology, Orthopedics, Neurosurgery, Endocrinology, Dermatology, Plastic Surgery, Psychiatry, Psychology, Ear, Nose and Throat (ENT), and Radiology. With the expertise of the above subspecialists, we are committed to providing the best care to patients and families at each stage of the disease as well as offering transitional care to the adult program when they reach young adult age. We are actively engaged in clinical drug trials and currently provide the latest drug therapies available for the patients with inoperable and rapidly growing plexiform neurofibromas. For exceptional patient care and support, we work collaboratively with the Children’s Tumor Foundation and the Texas Neurofibromatosis Foundation.

Contact Us

If you would like to refer a patient or need expedited access, contact our NF Coordinator, Karla Robles at phone: (512)628-1855 or via fax: (512)380-7544.

Our Services

We are a multidisciplinary group, led by experts in neurofibromatosis. Our mission is to provide accelerated access for patients with NF as well as comprehensive, multidisciplinary, state of the art care to all our patients in a family-centered environment.

In our clinic, we see patients and families affected by the disorder, building a great relationship with all, so they feel at home. We also organize an annual NF family day meeting for all patients with neurofibromatosis and their families as well as medical personnel interested in caring for patients with NF. At this meeting, topics of interest in neurofibromatosis and updates in the diagnosis and management of NF are delivered by experts from the multidisciplinary team. It is also a forum for NF families to connect with each other to form lasting and supportive relationships especially for those who are newly diagnosed with NF. In addition to medical care, we also provide psychosocial support and various educational materials. 

For patients who need it, we also provide transitional care from pediatric to adult care.

Our Team

Your child’s routine neurofibromatosis care will be overseen by pediatric neurologists. All patients will also be seen by an ophthalmologist, cardiologist and geneticist/ genetic counsellor. For some patients, further subspecialty care is necessary and referrals would be made with our multidisciplinary medical team.

Co-Directors
Dr. Manikum Moodley: Neurology
Dr. Virginia Harrod: Neuro-oncology
Coordinator
Dr. Karla Robles
Multidisciplinary Medical Team
Ophthalmology
Cardiology
Orthopedics
Neurosurgery
Dermatology
Plastic Surgery
Neuropsychology
Genetics
Psychiatry/Psychology
Social worker
PM&R
Endocrinology

Conditions We Treat

Neurofibromatosis type 1 (NF1)
NF1, an Autosomal Dominant disorder, is one of the most common genetic disorders, with an incidence of 1 in 3000/4000. NF1 presents with a wide variety of symptoms, where one of the most remarkable is the “café-au-lait” spots (flat, brown spots on the skin), that present in >95% of patients with NF1. 

Skin signs and symptoms: café-au-lait spots (usually present from birth or appear during the first year of life); freckles (mainly in armpits and/or groin) appear a little later. Neurofibromas (soft bumps under the skin), are benign tumors that appear in teenagers and adolescents, while plexiform neurofibromas appear earlier with 5-15% of these tumors developing malignant peripheral nerve sheath tumors.

Other lesions seen include optic gliomas, Lisch nodules; bony abnormalities in the form of tibial pseudarthrosis, sphenoid wing dysplasia, scoliosis, thinning of long bones, short stature and macrocephaly; vasculopathies, heart disease and precocious puberty.

Neurofibromatosis Type 2 (NF2)
NF2 is an AD disorder characterized by the development of vestibular schwannomas, schwannomas of other cranial, spinal and cutaneous nerves; cranial and spinal meningiomas and other CNS tumors.

Schwannomatosis
Schwannomatosis is a rare genetic disorder that results in benign tumors called schwannomas that grow on peripheral nerves throughout the body. The signs and symptoms usually appear in early adulthood; the most common symptom is long lasting pain which can affect any part of the body.

Important Guides for Diagnosis and Management

Health Supervision for Children With Neurofibromatosis Type 1
David T. Miller, Debra Freedenberg, Elizabeth Schorry, Nicole J. Ullrich, David Viskochil, Bruce R. Korf, Council on Genetics and American College of Medical Genetics and Genomics. Pediatrics May 2019, 143 (5) e20190660; DOI: https://doi.org/10.1542/peds.2019-0660

The Clinical Spectrum of Mosaic Neurofibromatosis in Children and Adolescents
Grant L Hom Sashidaran Moodley A David Rothner Manikum Moodley
J Child Neurol. 2020 Mar;35(3):242-246. DOI: 10.1177/0883073819889713. Epub 2019 Dec 17.

Cerebral Vasculopathy in Children With Neurofibromatosis Type 1
Ghosh P, Rothner D, Emch T, Friedman N and Moodleym M.  J Child Neurol. 2013; 28(1) 95-101. DOI: 10.1177/0883073812441059

Useful Links

https://www.aap.org/en-us/professional-resources/quality-improvement/Pages/Guidelines-and-Policy-Development.aspx

https://www.ctf.org/understanding-nf/nf1

https://www.texasnf.org/