The Sturge-Weber Syndrome and Ischemia
in the Immature Brain Research Program

Our laboratory focuses on ischemic injury in the immature brain in general and specifically on Sturge-Weber syndrome (SWS) as one rare cause of this injury. Ischemic injury in the immature brain differs in many important ways from that in the adult brain; the causes are different and the responses of the immature brain to the lack of blood flow, oxygen, and glucose are also very different from that of the mature brain. For example, the neonate, infant, or child is very likely to have a seizure when a stroke (ischemia) occurs while this is unusual in an adult.

Sturge-Weber syndrome occurs in about 1 in 20,000 infants. Blood vessels in the brain form abnormally and this results in abnormal blood flow that can result in brain ischemia, strokes, and stroke-like episodes. These children can also have severe seizures and migraines. Because children with SWS are usually born with a facial port-wine birthmark, with the right tests they can sometime be diagnosed presymptomatically. Early and aggressive management of seizures, migraines, and stroke-like episodes are important, particularly for infants and young children and those with bilateral brain involvement. For more information about the work-up and treatment of Sturge-Weber syndrome, please see the website of the Hunter Nelson Center at the Kennedy Krieger Institute.

One overall goal of our research is to test strategies to protect the immature brain exposed to ischemia (neuroprotection). Another goal of our research is to investigate novel drug and cellular approaches to enhancing the recovery (neuroregeneration) of the infant brain after stroke. We have several publications in these areas. To test these novel strategies we utilize an immature mouse unilateral carotid ligation model of ischemic brain injury which we helped to develop. We use both molecular histopathologic and cognitive behavioral outcomes for these studies. These research goals apply not only to treatment of Sturge-Weber syndrome, but also to neonatal stroke (1 in 4000 term births), pediatric stroke, and other clinical conditions involving ischemic injury to the immature brain.

Another major long-term goal of the lab is to continue to develop and understand the underlying cause of Sturge-Weber syndrome. As of May 2013, we now know that Sturge-Weber syndrome is caused by a mutation in the GNAQ gene on chromosome 9q21. Our work is to now continue to refine our knowledge and to develop new research that uses this discovery to find treatments and reliable techniques for diagnosis for patients. Please visit our Frequently Asked Questions page at the Hunter Nelson Sturge-Weber Center website for more information on the discovery of the GNAQ gene mutation.

About Doctor Comi

Doctor Anne ComiAs a child neurologist and director of the Hunter Nelson Center, Dr. Comi brings a translational approach to the laboratory; she brings clinical questions and problems to the lab, and likewise insights from the lab are used to guide novel treatment options and clinical research questions. For more information about the ongoing and completed research of Sturge-Weber syndrome please see the website of the Hunter Nelson Center at Kennedy Krieger Institute.