Rare Diseases Symptoms Automatic Extraction

Adrenomyeloneuropathy presenting with adrenal insufficiency.

[x-linked adrenoleukodystrophy]

Adrenomyeloneuropathy (AMN), one of the variants of X-linked adrenoleukodystrophy (ALD), is inherited peroxisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). AMN is characterized primarily by involvements of long ascending and descending tracts of the spinal cord and peripheral neuropathy, which leads to spastic paraparesis and urinary and erectile dysfunction. We experienced the AMN case of a 33-year-old man presenting bilateral progressive spastic paraparesis, impotence and urge incontinence with primary adrenal failures, as confirmed by increased serum of VLCFA concentrations. Considering that somatosensory evoked potentials in posterior tibial nerve was the only abnormal finding in electrophysiologic findings when compared with the severe spastic gait pattern shown, it is necessary to follow up with electrophysiologic studies.

Diseases presenting "spastic paraparesis" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • gm1 gangliosidosis
  • krabbe disease
  • phenylketonuria
  • x-linked adrenoleukodystrophy

This symptom has already been validated