Rare Diseases Symptoms Automatic Extraction

MRS findings in a patient with juvenile-onset Alexander's leukodystrophy.

[alexander disease]

Alexander's leukodystrophy is a rare cerebral white matter disorder with an onset that can be infantile, juvenile, or occur in the adult years. It is thought to be demyelinative, but the pathogenesis is ill-defined. We report a 24-year-old woman with juvenile-onset Alexander disease, of 12 years duration, who underwent magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) serially as part of her care. The patient's latest MRI showed periventricular-increased signal intensity on T2 and fluid attenuation and inversion recovery sequences, which appeared stable when compared to her first study seven years ago. MRS revealed an elevated choline/creatine ratio with relative suppression of the n-acetyl aspartate peak, also similar to her previous MRS findings. MRS also showed elevation of myoinositol levels, best demonstrated with the short echo-time spectra. These findings support the primarily demyelinative characteristics of this leukodystrophy and may provide a surrogate marker of disease progression, as well as a potential response to therapeutic intervention when this becomes available.

Diseases presenting "first study" symptom

  • achondroplasia
  • acute rheumatic fever
  • alexander disease
  • aniridia
  • coats disease
  • congenital adrenal hyperplasia
  • cowden syndrome
  • dystrophic epidermolysis bullosa
  • erythropoietic protoporphyria
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • krabbe disease
  • locked-in syndrome
  • oculocutaneous albinism
  • primary effusion lymphoma
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome
  • zellweger syndrome

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