Pediatric Prion Diseases

Pediatric Prion Diseases



Prion diseases are a group of rare conditions that lead to brain damage.

Expanded overview

Also known as transmissible spongiform encephalopathies (TSEs), prion diseases affect both humans and animals. A prion is a type of protein that causes normal proteins in the brain to abnormally fold. This results in brain damage.

With only about 300 cases in the United States each year, prion diseases are considered to be rare. In most cases, these conditions are fatal.


The types of prion diseases in humans include:

  • Creutzfeldt-Jakob disease (CDJ) – rapidly progressive disease that affects the neurological system that is always fatal
  • Variant Creutzfeldt-Jakob disease (vCJD) – caused by the same agent that causes “mad cow disease,” this is a disorder that affects the brain and is always fatal
  • Gerstmann-Straussler-Scheinker syndrome – very rare brain condition that runs in families, affects individuals between the ages of 20 and 60 years old and is always fatal
  • Fatal familial insomnia – rare disorder that is passed down in families and interferes with an individual’s sleep, which leads to the breakdown of brain function and loss of coordination
  • Kuru – very rare brain condition found among the people of New Guinea who ate the brains of the deceased as part of their funeral rites


Prion diseases develop when normal prion protein – which is naturally found on the outside of many cells of the body – becomes abnormal and gathers in the brain.

Risk Factors

Factors that can increase a child’s risk of contracting a prion disease include:

  • Eating meat infected with “mad cow disease” (disease passed from cows to humans that affects the brain and spinal cord)
  • Family history of prion disease
  • Infection from contaminated medical equipment or having received a transplanted, contaminated cornea


Signs and symptoms of prion diseases are:

  • Confusion
  • Extreme tiredness
  • Hallucinations
  • Muscle stiffness
  • Sudden personality changes
  • Trouble speaking
  • Trouble walking and changes in walking pattern (gait)
  • Trouble with memory or sudden-onset dementia

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