Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

Research output: Contribution to journalJournal articleResearchpeer-review

ABSTRACT: BACKGROUND: 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. CASE PRESENTATION: 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. CONCLUSION: IVIG may be considered as a last resort for treatment of refractory pain in AMN patients with indications of an inflammatory component.
Original languageEnglish
JournalB M C Neurology
Volume12
Issue number108
Number of pages4
ISSN1471-2377
DOIs
Publication statusPublished - 26 Sep 2012

ID: 40840957