Tuberous sclerosis: Clinical trial may be what halted Charlotte’s seizures

Charlotte with Jurriaan Peters, MD, in the Clinical and Translational Study Unit. When Charlotte D’Amario was about 4½ months old, she began making odd, forward-lurching movements. At first, her pediatrician thought it was reflux—that she was trying to spit up. “It was getting worse and worse, and no one had a clue as to what it was,” says Allyson, her mother. Her parents started to videotape her while she made these odd motions. They occurred in clusters of as many as 50 at a time, several times a day. Seeing videos of Charlotte at 8½ months, her pediatrician sent her to a neurologist. An electroencephalogram (EEG) revealed seizure activity, and an MRI scan showed tuber-shaped growths in Charlotte’s brain. Charlotte was diagnosed with tuberous sclerosis complex (TSC), a rare genetic condition in which benign tumors grow in the brain and other organs such as the skin, heart, eyes, kidneys and lungs. In about 90 percent of children, it causes epilepsy that can result in developmental delays. Charlotte’s parents were worried. “She wasn’t crawling or rolling, wasn’t hitting those baby milestones,” says Allyson. Medication failures A few weeks later, Charlotte met with Mustafa Sahin, MD, PhD, at the Tuberous Sclerosis Program at Boston Children’s. He diagnosed her seizures as infantile spasms and changed her to the appropriate medication—one that immediately stopped the spasms. But about six months later, the seizures started trickling back. For the next...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: All posts Diseases & conditions Our patients’ stories Research Tests & treatment epilepsy seizures TSC tuberous sclerosis complex Source Type: news