Symptoms and Diagnosis of Schilder's Disease - National Multiple Sclerosis Society

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Symptoms and Diagnosis of Schilder's Disease

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Symptoms

The symptoms of Schilder’s disease could include the following:

  • Weakness on one side of the body (hemiparesis)
  • Slowness of movement (psychomotor retardation)
  • Seizures
  • Difficulty with speech (dysarthria)
  • Visual and hearing impairment
  • Irritability
  • Memory problems
  • Personality changes
  • Gradual loss of awareness and responsiveness
  • Gradual inability over time to maintain nutritional status, causing patients to become increasingly thin and malnourished
  • Gradual loss of bowel and bladder function as the disease progresses
  • Impact on vital functions of respiration, blood pressure and heart rate in advanced disease

Diagnosis

Because there are no specific criteria for diagnosis, there is debate about the most appropriate way to definitively diagnose the disease. Some suggest that there have been only 9-28 cases of definitively diagnosed Schilder’s disease since it was first described in 1912 by Paul Schilder.

Schilder’s disease is diagnosed based on the findings on magnetic resonance imaging (MRI) and electroencephalographic studies (EEG). Clinicians attempt to rule out other diseases that can cause symptoms similar to Schilder’s disease such as intracranial neoplasm or abscess. The diagnostic criteria established by Poser in 1985:

  • One or two roughly symmetrical large plaques (lesions or scars). Plaques are greater than 2 cm in diameter
  • No other lesions are present and there are no abnormalities of the peripheral nervous system (additional lesions in the brain or spinal cord may suggest MS)
  • Results of adrenal function studies and serum very long chain fatty acids are normal
  • Pathological analysis is consistent with subacute or chronic myelinoclastic diffuse sclerosis

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