background participants

Participant 163

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Male, age 27 with progressive mental deterioration, seizures, and brain abnormalities

Date of Report

Jun 25, 2020


In his early 20s, the participant began to have difficulty finding words and remembering certain things. He also started to show signs of personality changes. While in college, he started to have severe headaches, which required visits to the emergency room.  Over the next few months, he began to experience a rapid neurological decline. This started with temporary memory loss (transient global amnesia) and loss of semantic memory (semantic dementia). During an extensive workup, multiple brain abnormalities were seen (cerebellar gliosis, ventriculomegaly, cerebral cortex atrophy, gliosis, focal white matter lesions, bilateral basal ganglia lesions, encephalomalacia).

Symptoms / Signs
  • Progressive mental deterioration
  • Memory impairment
  • Loss of consciousness
  • Temporary memory loss (transient global amnesia)
  • Loss of semantic memory (semantic dementia)
  • Seizures
  • Progressive headache
  • Brain abnormalities (cerebellar gliosis, ventriculomegaly, cerebral cortex atrophy, gliosis, focal white matter lesions, bilateral basal ganglia lesions, encephalomalacia)
  • Bleeding in the brain (cerebral hemorrhage)
  • Increased muscle tone (hypertonia)
  • Reduced visual acuity
  • Hearing impairment
  • Abdominal stretch marks (striae distensae)
  • Abnormal skin pigmentation (hypopigmented macules)
  • Abnormal aggressive, impulsive, or violent behavior
Current Treatments
  • Famotidine – gastroesophageal reflux disease
  • Vimpat – seizures
  • Cellcept
  • Prednisone
  • Cytoxan
Prior Treatments
  • Keppra – seizures
Considered treatments
Previously Considered Diagnoses
  • Leukodystrophy
  • Metabolic condition
  • Mitochondrial condition
Other Photographs
Genetic Variants of Interest

If this participant sounds like you or someone you know, please contact us!


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