Apr 09, 2018

The participant was healthy until the age of 9 when she started complaining about seeing spots and the color purple. During some of these episodes, she would completely lose her vision. This loss of sight would last anywhere from 2 to 10 seconds. She was started on Tileptal, but the episodes continued. She also started having global tonic clonic, atypical absence, and head drop seizures. At this time, a PET scan showed decreased glucose metabolism. Over time, PET scans have showed diffuse hypometabolism. A brain MRI performed when she was 10 years old was normal. A more recent MRI showed blurring of the gray white matter interface.

The participant has tried multiple seizure medications and has had brain surgery (complete corpus callosotomy), but her seizures have continued. After the complete corpus callostomy, she started having significant memory problems and behavioral changes. She also started experiencing muscle pain, primarily in her hips and hamstrings, and an unsteady walk requiring her to use a wheelchair. She can no longer perform her typically daily activities without assistance. Despite these difficulties, she enjoys her dog and loves to draw.

• Seizures (absence, generalized myoclonic, generalized, febrile, multifocal)
• Abnormality in the electrical activity of the brain (EEG with generalized epileptiform discharges)
• Intellectual disability
• Elevated liver enzymes (elevated hepatic transaminases)

• Onfi, Keppra, Lamictal, Zonegran, Klonopin – seizures
• Vagus Nerve Stimulator

• Trileptal, Depakote, Topamax, Phenobarbital, Bumetamide, Rufinamide, Fycompa, ketogenic diet – seizures