Stories about: Sturge-Weber Syndrome Clinic

First a birthmark, then a rare-disease diagnosis

Brielle, who has Sturge-Weber syndrome, peers over a wooden fence as she plays outside
Brielle plays near her home in Rhode Island.

Two-year-old Brielle Coutu loves listening to music, dancing and eating enough cheese that her mother, Heather, often wonders aloud, “Are you a mouse?” Brielle loves to play outside and is usually a chatty, happy-go-lucky little girl. But, sometimes, she can be overwhelmed by the excitement of gathering with family and friends.

“We think she has some sensory sensitivities related to her Sturge-Weber syndrome,” says Heather.

Brielle was born with what’s known as a port-wine birthmark on her face. It is aptly named for its dark reddish color. Port-wine birthmarks can be present on otherwise healthy babies. But Heather and her husband, Justin, quickly learned that this type of birthmark can alternatively be symptomatic of a worrisome underlying condition.

Read Full Story

Living with Sturge-Weber Syndrome: Ryan’s Story

Ryan McIntyre as a newborn. The mark on his forehead, called a port wine stain, was the only outward sign that he might have Sturge-Weber syndrome. (Courtesy of Pam McIntyre)

About one in every 10 babies is born with a birthmark. Most are harmless and don’t require treatment. Some, however, can be signs of a serious problem.

When Ryan McIntyre was born, a dark red birthmark covered his left eyelid and part of his forehead. Within days, Boston Children’s dermatologist and Vascular Anomalies Center member Marilyn Liang, MD, diagnosed the discoloration as a capillary malformation, a common type of birthmark sometimes called a “port wine stain” because of its purplish color.

Liang also suggested that the mark could be a sign of Sturge-Weber syndrome (SWS), a rare condition in which extra but abnormal blood vessels grow on the brain’s surface. The unusual blood flow can lead to seizures, developmental delays, glaucoma and weakness or paralysis on one side of the body. While the total number of people born with SWS is not known, estimates range from one in 40,000 to one in 400,000.

An MRI would be needed to confirm the diagnosis, but because Ryan was otherwise healthy and didn’t have any symptoms, his doctors said they could wait until he was six months old before having the scan. Ryan and his family—including his twin sister, Ava—went back to their home in the Boston suburbs.

Read Full Story