background participants

Participant 061


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Female, age 22 with refractory seizures

Date of Report

Apr 09, 2018

Description

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.

Symptoms / Signs
  • 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)
Current Treatments
  • Onfi, Keppra, Lamictal, Zonegran, Klonopin – seizures
  • Vagus Nerve Stimulator
Prior Treatments
  • Trileptal, Depakote, Topamax, Phenobarbital, Bumetamide, Rufinamide, Fycompa, ketogenic diet – seizures
Considered treatments
Previously Considered Diagnoses
  • Lafora disease
  • Lennox-Gastaut syndrome
  • Lysosomal storage disorder
  • Metabolic condition
  • Microdeletion/duplication syndrome
  • Mitochondrial condition
  • Single gene condition (negative exome sequencing)
  • Unverricht-Lundborg disease
Other Photographs
Genetic Variants of Interest
Contact

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