Rare Diseases Symptoms Automatic Extraction

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy.

[adrenomyeloneuropathy]

Adrenomyeloneuropathy (AMN) is one of several phenotypes of the adrenoleukodystrophy spectrum caused by mutations in the ABCD1 gene on the X chromosome. An inflammatory component is part of the disease complex ranging from severe childhood CNS demyelination to spinal cord and peripheral nerve degeneration.We present a patient with clinical progressive AMN and severe lower limb pain. Longitudinal brain magnetic resonance spectroscopy showed a constant slightly elevated myoinositol/total creatine ratio during the five year treatment period, probably reflecting demyelination, microglial activation and gliosis, indicating an inflammatory response. The pain was refractory to conventional therapy but intravenous immunoglobulin (IVIG) treatment was highly efficient.IVIG may be considered as a last resort for treatment of refractory pain in AMN patients with indications of an inflammatory component.

Diseases presenting "demyelination" symptom

  • adrenomyeloneuropathy
  • alexander disease
  • canavan disease
  • classical phenylketonuria
  • homocystinuria without methylmalonic aciduria
  • kallmann syndrome
  • krabbe disease
  • locked-in syndrome
  • neonatal adrenoleukodystrophy
  • neuralgic amyotrophy
  • primary hyperoxaluria type 1
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • waldenström macroglobulinemia
  • wiskott-aldrich syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated