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Mutations Cause Massive Brain Swelling, UCSD Doctor Finds

June 27, 2012 1:58 p.m.

Hemimegalencephaly is a rare brain condition that creates a dramatic problem: half of the brain swells to an abnormal size. And the treatment is even more dramatic: removing the entire swollen half of the brain.

Related Story: Mutations Cause Massive Brain Swelling, UCSD Doctor Finds

Transcript:

This is a rush transcript created by a contractor for KPBS to improve accessibility for the deaf and hard-of-hearing. Please refer to the media file as the formal record of this interview. Opinions expressed by guests during interviews reflect the guest’s individual views and do not necessarily represent those of KPBS staff, members or its sponsors.

A rare brain condition creates a dramatic problem: half of the brain swells to an abnormal size. And the treatment is even more dramatic: removing the entire swollen half of the brain. But KPBS reporter Claire Trageser (tra-GUESS-er) tells us a researcher at U-C San Diego has made a discovery that could eventually change that.
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BRAIN1 (ct)

Hemimegalencephaly (hemmi-megan-ceff-oly) causes severe seizures that start in childhood. Dr. Joseph Gleeson, a professor at U-C San Diego, said right now the only treatment—removing the swollen half of the brain—is shocking to parents.

BRAIN1A 0:19
“Well you can imagine when you hear your child has this condition and then you hear the treatment is to remove half the brain, it is absolutely devastating to these families. It’s kind of counterintuitive that removing half the brain would be the treatment for any disease, but in fact once the hemisphere is removed the patients can do much better because the seizures stop.”

Gleeson said because brain cells come from the same place, it doesn’t make sense that half would cause swelling and half wouldn’t. He studied samples from swollen brains that were removed and found surprising results.

BRAIN1B 0:21
“These mutations are the same exact mutations found in cancers. The mutations that we found are not inherited from either parent, so these came about spontaneously as the cells were dividing during brain development, yet the diseased brain never takes the form of cancer in these patients.”

Gleeson hopes his research could lead to medicine to treat the condition without removing the brain. He also hopes it could help explain why certain cell types don’t form cancer, even though they have the same mutations found in cancer.