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Participant 163


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

Date of Report

Jun 25, 2020

Description

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
Contact

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