A person born with a port-wine birthmark on his or her face and eyelid(s) has an 8 to 15 percent chance of being diagnosed with Sturge-Weber syndrome. The rare disorder causes malformations in certain regions of the body’s capillaries (small blood vessels). Port-wine birthmarks appear on areas of the face affected by these capillary malformations.
Aside from the visible symptoms of Sturge-Weber, there are also some more subtle and worrisome ones. Sturge-Weber syndrome can be detected by magnetic resonance imaging (MRI). Such images can reveal a telltale series of malformed capillaries in regions of the brain. Brain capillary malformations can have potentially devastating neurological consequences, including epileptic seizures.
Frustratingly, since doctors first described Sturge-Weber syndrome over 100 years ago, the relationship between brain capillary malformations and seizures has remained somewhat unexplained. In 2013, a Johns Hopkins University team found a GNAQ R183Q gene mutation in about 90 percent of sampled Sturge-Weber patients. However, the mutation’s effect on particular cells and its relationship to seizures still remained unknown.
But recently, some new light has been shed on the mystery. At Boston Children’s Hospital, Sturge-Weber patients donated their brain tissue to research after it was removed during a drastic surgery to treat severe epilepsy. An analysis of their tissue, funded by Boston Children’s Translational Neuroscience Center (TNC), has revealed the cellular location of the Sturge-Weber mutation. The discovery brings new hope of finding ways to improve the lives of those with the disorder. …
Radiologists who can tune in to the nuances of brain scans in children are a pretty rarified group. Only about 3 percent of U.S. radiologists, some 800 to 900 physicians, practice in pediatrics. Those specifically trained in pediatric neuroradiology are even scarcer.
To a less trained eye, normal developmental changes in a child’s brain may be misinterpreted as abnormal on MRI. Conversely, a complex brain disorder can sometimes appear normal. That’s especially true when the abnormality affects both sides of the brain equally (see sidebar).
It can be hard to find the cause of a child’s developmental delay without a proper read. “Pediatric brain scans of children under age 4 can be particularly tricky to read because the brain is rapidly developing during this period,” says Sanjay Prabhu, MBBS, a pediatric neuroradiologist at Boston Children’s Hospital. “If you’re looking at adult scans all the time, it’s incredibly difficult to transition to pediatric scans and understand what is considered ‘normal’ and ‘abnormal.’ Clinicians often wonder, ‘Should I repeat the scan? Should I send the patient to a specialist?’” …
Children’s neurologist-neuroscientist Mustafa Sahin, Simon Warfield, director of the hospital’s Computational Radiology Laboratory, and Jurriaan Peters compared brain organization in 29 healthy subjects with that in 40 patients with tuberous sclerosis, a rare genetic syndrome often associated with cognitive and behavioral deficits, including ASDs about 50 percent of the time. “Patients with tuberous sclerosis can be diagnosed at birth or potentially before birth, because of cardiac tumors that are visible on ultrasound, giving us the opportunity to understand the circuitry of the brain at an early age,” explains Sahin.
The panels above (click to enlarge) are advanced MRI images …
For the third year running, my daughter is participating in a dyslexia study she entered at age 5, just after finishing preschool. Thinking she was part of a game, she spent about 45 minutes lying still in a rocket ship (in reality, an MRI scanner), doing mental tasks she believed would help lost aliens find their way back to their planet.
All the while, her brain was being imaged, helping a team led by Nadine Gaab of Children’s Laboratories of Cognitive Neuroscience to find a pattern indicating that she might be at risk for dyslexia. Such signatures might flag children who could benefit from early intervention, sparing them the frustration of struggling with dyslexia once in school.