Rare Diseases Symptoms Automatic Extraction

[Subtle brain abnormalities in adrenomyeloneuropathy].

[adrenomyeloneuropathy]

To describe subtle brain abnormalities detected on MRI in adult patients with adrenomyeloneuropathy (AMN). Materials and methods. Retrospective evaluation of data acquired prospectively as part of a clinical trial (Riluzole) in 66 adult patients with AMN without obvious brain lesion on MR. All patients underwent brain MR including T1W, T2W, FLAIR and spectroscopy. After a review had been validated by three different reviewers, review of MR images was performed by consensus using a semi-quantitative scale.Preliminary analysis of MR images confirmed the presence of signal abnormalities involving the corticospinal tracts in 36 patients (54.6%). Additional subtle abnormalities were also detected: white matter palor, mainly parieto-occipital in location, with patchy hyperintensity in 36 patients (54.6%), hyperintense pontocerebellar fibers on T2W and FLAIR in 25 patients (41.7%). The presence of elevated Cho/Cr and mI/Cr ratios, described in the literature, were confirmed.This retrospective study allows the description of an AMN pattern on MRI in patients without white matter or callosal abnormalities.

Diseases presenting "white matter" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • cadasil
  • canavan disease
  • classical phenylketonuria
  • cushing syndrome
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • kallmann syndrome
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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