Natalia Leksa
ID
 Email src
David Aebisher
ID
 Email src
Sabina Galiniak
ID
 Email src
Dominika Uberman-Kluz
ID
Seweryn Bartosz
ID
Dorota Bartusik-Aebisher
ID
 Email src
Institute of Medical Sciences, Medical College, University of Rzeszow, Rzeszow, Poland
Department of Photomedicine and Physical Chemistry, Medical College of Rzeszów University, Rzeszów, Poland
Department of Biochemistry and General Chemistry Medical College of Rzeszów University, Rzeszów, Poland
Department of Neurology, MSWiA Hospital, Rzeszów, Poland
Department of Neurology, MSWiA Hospital, Rzeszów, Poland
Department of Biochemistry and General Chemistry, Medical College of the University of Rzeszow, University of Rzeszow, Rzeszow, Poland
Received: 4 May 2019 / Accepted: 15 August 2019 / Published: 30 September 2019

Abstract

Introduction. Adrenoleukodystrophy is a genetic disorder linked to the X chromosome, in which the peroxisomal beta-oxidation process is disturbed. It is a metabolic disease that results in the accumulation of very long chain fatty acids (VLCFAs - very long chain fatty acids) responsible for the symptoms of damage to the adrenal cortex, gonads and the brain.

Aim. A clinical case is reported.

Description of case. This article describes the case of a 64-year-old woman who had neurological symptoms for many years, gradually increasing without significant improvement after the treatment (periodic steroid therapy).

Conclusion. Based on tests (including the determination of the ABCD1 gene and very long chain fatty acids - VLCFA), adrenoleukodystrophy was suspected. 

 

Cite

Leksa N, Aebisher D, Galiniak S, et al. Adrenomyeloneuropathy – a case report. Eur J Clin Exp Med. 2019;17(3):274–276. doi: 10.15584/ejcem.2019.3.13

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited