Treatment for Congenital Disorders

Congenital disorders are those physical abnormalities that are present at birth. Complex birth defects affect about 3% of children born in the United States and are a major cause of death and illness among newborns. At UCSF, specialists in several disciplines work together to provide the best care possible to children with congenital disorders affecting the central nervous system, from diagnosis to rehabilitation and follow-up review.  We are also committed to providing parents with the information and support they need to help their children.


Spina Bifida

Most birth defects are treated after the child is born, but thanks to advances in imaging techniques and diagnostic testing, many birth defects can be detected and treated before a child is born, sparing the child potentially devastating consequences after birth. The Fetal Treatment Center at UCSF was the first institution to develop fetal surgery techniques and is the world leader in fetal diagnosis and therapy with surgery and endoscopic techniques. It is a multidisciplinary center, with specialists in pediatric surgery and neurosurgery, genetics, obstetrics and perinatology, radiology, nursing, and neonatal medicine. The Center's doctors, nurses, and staff coordinate every aspect of care, from diagnosis through long-term follow-up review as the child matures. Minimally invasive, closed-uterus surgical procedures using endoscopic techniques-called FETENDO-reduce the risk of preterm labor and delivery. The Fetal Treatment Center team's surgeons pioneered FETENDO for several life-threatening congenital conditions.

Currently the Fetal Treatment Center is participating in the first clinical trial of fetal surgery for myelomeningocele  – a condition which may cause paralysis, deformity, or hydrocephalus and is usually discovered during the second trimester. The Management of Myelomeningocele Study (MOMS) is a randomized trial that will compare the outcomes of infants treated in utero to those treated after birth. Investigators hope that early closure of the spinal cord will reduce the secondary injury that occurs in utero and potentially reduce some of the lifelong disabilities associated with spina bifida.

Hydrocephalus

Hydrocephalus occurs when excess cerebrospinal fluid in the brain causes increased swelling and pressure, and can lead to enlargement of the head and cognitive dysfunction. Treatment involves surgical placement of a shunt to divert fluid away from the brain and into other parts of the body to be absorbed. Pediatric specialists in the Department of Neurological Surgery are collaborating with the Hydrocephalus Association, the Division of Child Neurology, and the Division of Neuroepidemiology in studies designed to define the incidence, prevalence, and long-term outcome for patients developing hydrocephalus in childhood.

Chiari Malformation

A Chiari Type I malformation is present when the lowest portions of the brain, the cerebellar tonsils, descend ≥5 mm below the base of the skull. Most patients with a Chiari I malformation are probably asymptomatic and do not require surgery. However, a smaller group of patients will develop symptoms, the most common of which are suboccipital headache and neck pain. Other symptoms (extremity weakness, numbness, unsteadiness with walking, swallowing difficulties) are much less frequent. Not infrequently, these malformations are associated with the accumulation of cerebrospinal fluid within the core of the spinal cord and this is called syringomyelia. When patients are symptomatic from either the malformation or the syrinx, they may benefit from surgery to increase the space available for the cerebellum and brainstem at the skull base. This is accomplished by removing bone at the base of the posterior skull and, should the cerebellar tonsils drift down far enough, from the very top of the cervical spine. To provide additional space, the covering of the brain and spinal cord, the dura mater, is often opened and a “patch” is sewn in place. Following the decompression of a Chiari malformation, preoperative symptoms and the associated syrinx are expected to improve.


Craniofacial Anomalies and Craniosynostosis

Craniosynostosis is defined by the premature closure of the sutures (the boundaries of the bone edges) of the skull. When this occurs, a bony ridge can sometimes be palpable or visible over this suture, but more apparent over time is the development of an abnormal head shape. On average, 1 in 2,000 children will be diagnosed with a craniosynostosis. It should be noted that this condition is primarily a problem of head shape and that the underyling brain structure and function are normal. In rare instances of multiple suture closure, the space within the skull becomes insufficient as the child grows and the intracranial pressure can increase. For either correction of head shape or relief of high pressure, surgery is corrective. Approximately fifty children a year undergo a surgical repair of craniosynostosis at UCSF. Early surgery minimizes the extent of head misshaping and is remarkably successful. In collaboration with the Center for Craniofacial Anomalies at UCSF, patients may either be treated with endoscopic repair or a more conventional reconstructive procedure.