Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

Aia E Jønch; Else R Danielsen; Carsten Thomsen; Per Meden; Kirsten Svenstrup; Jørgen Erik Nielsen

doi:10.1186/1471-2377-12-108

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

Aia E Jønch, Else R Danielsen, Carsten Thomsen, Per Meden, Kirsten Svenstrup, Jørgen Erik Nielsen

Medical Genetics Program

3 Citations (Scopus)

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 language	English
Journal	B M C Neurology
Volume	12
Issue number	108
Number of pages	4
ISSN	1471-2377
DOIs	https://doi.org/10.1186/1471-2377-12-108
Publication status	Published - 26 Sept 2012

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http://www.biomedcentral.com/1471-2377/12/108

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title = "Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy",

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.",

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T1 - Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

AU - Jønch, Aia E

AU - Danielsen, Else R

AU - Thomsen, Carsten

AU - Meden, Per

AU - Svenstrup, Kirsten

AU - Nielsen, Jørgen Erik

PY - 2012/9/26

Y1 - 2012/9/26

N2 - 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.

AB - 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.

U2 - 10.1186/1471-2377-12-108

DO - 10.1186/1471-2377-12-108

M3 - Journal article

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SN - 1471-2377

VL - 12

JO - B M C Neurology

JF - B M C Neurology

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ER -

Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy

Abstract

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