Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Standard
Intravenous immunoglobulin treatment in a patient with adrenomyeloneuropathy. / Jønch, Aia E; Danielsen, Else R; Thomsen, Carsten; Meden, Per; Svenstrup, Kirsten; Nielsen, Jørgen Erik.
I: B M C Neurology, Bind 12, Nr. 108, 26.09.2012.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
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 - 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.
AB - 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.
U2 - 10.1186/1471-2377-12-108
DO - 10.1186/1471-2377-12-108
M3 - Journal article
C2 - 23009600
VL - 12
JO - BMC Neurology
JF - BMC Neurology
SN - 1471-2377
IS - 108
ER -
ID: 40840957