CHOC Provides Comprehensive Care for Children with Neurofibromatosis Type 1

CHOC Children’s Neurofibromatosis Program – a recently nationally recognized program by the Children’s Tumor Foundation as a Neurofibromatosis Affiliate Clinic – provides comprehensive care to even the most rare medical issues in association with Neurofibromatosis type 1 (NF1).

Dr. Neda Zadeh
Dr. Neda Zadeh

NF1 is a common genetic condition that primarily affects the skin and the nervous system and is caused by a change or mutation in a single gene called NF1.  This condition occurs in approximately one in every 3,000 children. The majority of these children do very well, have happy and healthy lives and may not have major skin issues, developmental disabilities or other neurological issues, says Dr. Neda Zadeh a CHOC medical geneticist and associate director of the Molecular Diagnostic Laboratory at Genetics Center.  However, due to the known complications that can accompany this condition, comprehensive multidisciplinary care is strongly recommended.

“Half of the time, NF1 can occur for the first time in a child due to a spontaneous mutation in the NF1 gene at the time of conception, and is not inherited from a parent,” explains Dr. Zadeh. “It is important for parents to realize that this condition is not the result of anything an expectant mother did or did not do during her pregnancy. In the other 50 percent of patients, we often will see that one of the parents also has NF1 and may not even realize it.”

In order to meet criteria for an NF1 diagnosis, patients must meet two of the following criteria established in 1988 by the National Institutes of Health (NIH), summarized below:

  • Six or more café-au-lait macules of a specific measured diameter depending on the age of the individual (over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals).
  • Two or more neurofibromas of any type or one plexiform neurofibroma.
  • Freckling in the axillary or inguinal regions.
  • Optic glioma.
  • Two or more iris Lisch nodules (iris hamartomas) observed on dilated eye exam.
  • A distinctive bony lesion (sphenoid dysplasia or tibial pseudarthrosis).
  • A first-degree relative (parent, sibling, or offspring) with a known diagnosis of NF1 as defined by the above criteria.

These NIH diagnostic criteria are extremely accurate in adults and children over the age of 5 years. A diagnosis of NF1 should be suspected in individuals who have any one of the above findings. Often if children are younger than 5 at the first evaluation, he or she may not yet have met the above criteria, but may do so after they reach school age. For this reason, visiting a geneticist on a regular basis is important in order to monitor and care for the patient.  Also, in certain cases in which a diagnosis is not completely clear, or there is concern for a different diagnosis, genetic testing via sequencing and deletion/duplication analysis of the NF1 gene is available and usually coordinated after genetic counseling occurs.

Neurofibromatosis type 2 (NF2), a completely separate disorder, is even more rare than NF1.  A patient with NF1 is not at an increased risk compared to the general population to have NF2, especially if there is a negative family history.

Children with NF1 require care from multiple specialists including neurosurgery, neurology, oncology and orthopaedics, and at CHOC is seen at least annually by a geneticist, who aids in coordinating care and management of the condition. CHOC’s  multidisciplinary NF clinic involves all of the above specialists in the routine care of children with NF1 and other related disorders.

“We also can provide information to a patient and their families regarding the possibility to have further children in the family with NF1,” says Dr. Zadeh.

CHOC’s Neurofibromatosis Program has been treating children with NF1 for more than 30 years and annually cares for at least 150 children with NF1. The special program includes CHOC specialists currently involved in cutting edge clinical trials that are not available at many pediatric centers.

Learn more about the genetics program at CHOC.

CHOC Celebrates Child Life Week

The team of child life specialists at CHOC Children’s strives to “normalize” the hospital environment for patients and families. By making things like medical procedures and equipment less foreign, patients can focus on what’s important: feeling better.

“At a children’s hospital, we are doing much more than treating illness.  We are healing children and caring for families, says Dr. David Gibbs, division chief pediatric surgery, CHOC Children’s Specialists.  “Child life gives our young patients a sense of comfort, control, and understanding that is not only helpful to them but reassuring to their families.”

CHOC Children's Child Life

Child Life’s work includes surgery preparation and support; therapeutic medical play; new diagnosis education and support; developmental stimulation; sibling support; and specialized therapeutic programs like pet, art and music therapy.

As a pediatric surgeon, Dr. Gibbs sees first-hand the impact this unique team has on a patient’s recovery.

“Child Life helps calm, cheer, and inform the child before surgery.  This actually reduces the need for medication and promotes more rapid healing and recovery,” he adds.

In recognition of Child Life Week, CHOC celebrates our dynamic child life team, and the role they play in our commitment to patient and family-centered care. Watch this video for a glimpse into CHOC child life.

To reach CHOC’s child life department, please call 714-509-8473. 

Learn more about CHOC’s child life services.

CHOC Experts Provide High Level of Care for Brachial Plexus Surgery

CHOC Children’s offers the highest level of care for children requiring brachial plexus surgery.

Brachial plexus surgery is a complex procedure that repairs damage to the bundle of connected nerves in the neck region. Damage to these nerves is often caused by birth complications, contact sport collisions and automobile accidents. A severe brachial plexus injury can cause a patient to lose function and sensation in their arm, impairing their ability to perform everyday tasks.

Surgical procedures such as nerve grafts and transfers can restore this function and sensation and help the patient regain their lost quality of life.

“While many patients will regain movement with therapy alone, a small percentage will require nerve surgery,” says Dr. Joffre Olaya, pediatric neurosurgeon at CHOC. “Patients may even need a series of surgeries,” he adds. “The first surgery may be focused on the nerves, where the second would be focused on the transfer of muscle or movement of bones.”

The experienced multidisciplinary team at CHOC is fully equipped to handle all aspects of the repair and guide the patient and their family through every stage of treatment and healing. The surgery is performed in the Tidwell Procedure Center at CHOC, which features seven operating rooms and advanced technology and information systems.

“We like to evaluate patients as early as possible,” says Dr. Amber Leis, a CHOC and UC Irvine plastic surgeon. “We want to be part of the child’s journey and provide long-term care to ensure the best possible outcome.”

Whether or not these patients end up requiring surgery, they all benefit from therapy, explains Dr. Leis. CHOC is proud to offer the latest, research-based physical therapy in one of the most comprehensive rehabilitation centers in the area. Further, depending on their age, diagnosis and treatment plan, some brachial plexus patients may benefit from aquatic physical therapy, which takes place in the center’s pool.

Dr. Olaya and Dr. Leis are committed to building a robust, one-of-a-kind brachial plexus program for children in the region and beyond.

They offer community physicians the following guidelines on when to refer:

  • As early as possible, after a brachial plexus birth palsy with impaired arm movement.
  • After a sports or motor vehicle accident with impaired arm movement or sensation.

Learn more about surgical services at CHOC.

Grand Rounds Video – Bone Fragility in Children: Diagnosis and Treatment of Pediatric Osteoporosis

Threats to bone health are increasingly a pediatric concern. Genetic or acquired disorders can compromise the expected gains in bone quantity and quality, and lead to osteoporosis early in life. Recurrent fractures in otherwise healthy youth may also be an indication of underlying bone fragility.

In this grand rounds video presentation, Dr. Laura Bachrach, professor of pediatrics, division of endocrinology, Lucile Packard Children’s Hospital, Stanford University School of Medicine, briefly reviews recent advances in the diagnosis and treatment of pediatric osteoporosis. Common clinical scenarios are also discussed to underscore current practice and ongoing controversies in the pediatric bone field.

View upcoming continuing medical education and grand rounds presentations.

View previous grand rounds videos.

In the Spotlight: Peter Yu, M.D.

Peter Yu, M.D. A new pediatric surgeon with unique expertise in fetal surgery has joined CHOC Children’s Specialists Pediatric Surgery. Dr. Peter Yu specializes in the full spectrum of pediatric surgery, including neonatal, thoracic, and hernia surgery, and has quickly become an integral part of the surgery team.

“I’m extremely happy to be at CHOC,” Dr. Yu says. “There is so much talent and potential here, as well as a pioneering spirit and willingness to undertake big things.”

He is working closely with Dr. David Gibbs, division chief, pediatric surgery, CHOC Children’s Specialists, and Dr. Mustafa Kabeer, pediatric surgeon, CHOC Children’s Specialists, to launch a multi-disciplinary fetal surgery program at CHOC in the near future.

This highly complex surgery was uncharted territory about 30 years ago, Dr. Yu says. Many advances have been made in the field since, including new techniques that have allowed for the in utero surgical intervention of previously unsurvivable conditions. With special training from The Children’s Hospital of Philadelphia, one of the pioneering institutions in fetal surgery, Dr. Yu is determined to bring that level of expert care to CHOC and add to his team’s scope of services.

Among his goals, he hopes to help his team enhance the trauma program, advance CHOC’s minimally invasive surgery program, and increase CHOC’s national reputation through quality patient care and innovative research.

A passion for pediatric surgery

Dr. Yu followed in his older brother’s footsteps to become a doctor and attended Stanford University for his undergraduate studies. He graduated from the medical school at University of Missouri School of Medicine, where he fell in love with the culture and technical aspects of surgery, as well as the potential to make sick patients better quickly.

“I realized that the best surgeons were kind, dedicated, hard-working and team players – traits that I really value. When I discovered pediatric surgery, I felt it was a perfect fit for me, as it allows me to take care of children with an incredibly broad spectrum of pathology through surgical excellence,” he says.

Dr. Yu completed his general surgery residency at University of California, San Diego, followed by a surgical critical care fellowship at Boston Children’s Hospital and a pediatric surgery fellowship at The Children’s Hospital of Philadelphia. Additionally, he is board certified in general surgery, pediatric surgery and surgical critical care, and is currently working on a master of public health degree from Johns Hopkins Bloomberg School of Public Health.

This dedicated physician is interested in outcomes research to better understand the end results of specific health care practices and interventions.

“We presently live in an era where massive amounts of data are available at the click of a few buttons. The roadblock for many physicians is that we often don’t know how to access this data or organize it,” Dr. Yu explains. “My goal, along with my partner, Dr. Yigit Guner, as well as the division of pediatric general and thoracic surgery at CHOC, is to build an outcomes research center. This center will help all CHOC physicians access healthcare data and turn it into something meaningful so that we can provide the highest quality of clinical care to our patients, and do so in a financially sustainable manner.”

Dr. Yu has given numerous national presentations at meetings such as the American College of Surgeons Clinical Congress and the Association for Academic Surgery and Society of University Surgeons Academic Surgical Congress. He is a member of several organizations, including the American Pediatric Surgical Association and Society of Critical Care Medicine.

In his spare time, he enjoys spending time with his wife and three children. He also enjoys surfing, basketball and competitive swimming on a local U.S. Masters swim team.

To get in contact with Dr. Yu or to refer a patient, please call 714-364-4050.