Stories about: hemispherectomy

Patients’ brain tissue unlocks the cellular hideout of Sturge-Weber’s gene mutation

A diagram of the skull and brain showing the leptomeninges, which is affected by Sturge-Weber syndrome
Sturge-Weber syndrome causes capillary malformations in the brain. They occur in the brain’s leptomeninges, which comprise the arachnoid mater and pia mater.

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.

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Touching a nerve in epilepsy: Genetic studies find obscure causes

Dante Bergskaug’s epilepsy was traced to a genetic abnormality affecting just his brain cells–and about 1 in 3 of them–but it was enough to enlarge and malform the entire the right half of brain.

Dante Bergskaug started seizing soon after he was born. He had a rare condition called hemimegalencephaly—the entire right side of his brain was enlarged and malformed. He had unusually severe epilepsy, and his doctors gave him a grim prognosis, telling his parents he probably wouldn’t live to the age of 2.

Peter Black, MD, then chief of Neurosurgery at Boston Children’s Hospital, thought otherwise. “He said, ‘I see him running around outside your house, playing ball with you,’” recalls Dante’s mother Gina.

In 2003, at just 5 months of age, Dante had a hemispherectomy, or complete removal of the abnormal half of his brain. There was little to be found about the operation on the Internet, and the few families with hemimegalencephaly that the Bergskaugs knew had refused surgery. But the decision wasn’t a hard one to make.

“Every day he would have 300 seizures,” Gina says. “The medications would fail one after another. He was hardly able to eat, was really not living the life you’d want for your child. If there was any hope to put an end to this, then we were going do it.”

Dante’s seizures dropped off sharply after the operation. The Bergskaugs donated some of his brain tissue to research, and from time to time met with a young epileptologist and research fellow, Annapurna Poduri, MD, MPH, who was doing genetic studies on the tissue and had lots of questions.

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