Rare Diseases Symptoms Automatic Extraction

Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease.

[alexander disease]

Alexander disease is a progressive neurodegenerative disease, which can present with brainstem lesions with imaging characteristics similar to multifocal low-grade glioma, thus presenting a diagnostic dilemma. The authors report a 6-year-old child presenting with multifocal brainstem lesions subsequently diagnosed to have Alexander disease. In vivo magnetic resonance spectroscopy generated a metabolite profile of the lesion allowing differentiation from low-grade glioma. Magnetic resonance spectroscopy is a powerful tool in the assessment of brainstem lesions and is a useful adjunct to conventional magnetic resonance imaging in the assessment and diagnosis of atypical brain lesions.

Diseases presenting "glioma" symptom

  • alexander disease
  • canavan disease
  • cowden syndrome
  • severe combined immunodeficiency

This symptom has already been validated