First a birthmark, then a rare disease diagnosis

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. “Doctors told us that port-wine birthmarks only appear on three out of 1,000 babies,” says Heather. “Then, they also told us that 8 to 15 percent of babies with port-wine birthmarks may have Sturge-Weber syndrome.” Sturge-Weber syndrome: A hidden risk Sturge-Weber syndrome is a rare disorder characterized by facial port-wine birthmarks or abnormalities of small blood vessels in the brain known as capillaries. These capillary malformations of the brain, hidden from plain sight, in contrast to the facial birthmarks, can be associated with a high risk of epilepsy. The only way to detect them — aside from telltale...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: Diseases & Conditions Our Patients’ Stories Dr. Anna Pinto epilepsy neurology rare disease seizures Sturge-Weber syndrome Sturge-Weber Syndrome Clinic Source Type: news

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