Adrenomyeloneuropathy – a case report

• Authors: Natalia Leksa , David Aebisher , Sabina Galiniak , Dominika Uberman-Kluz , Serweryn Bartosz , Dorota Bartusik-Aebisher
• Languages of publication: EN

Abstracts

EN

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.

Keywords

EN

adrenoleukodystrophy; fatty acids; steroid therapy

• Publisher: Wydawnictwo Uniwersytetu Rzeszowskiego
• Journal: European Journal of Clinical and Experimental Medicine
• Year: 2019
• Issue: 3
• Pages: 274-276

Contributors

author

Natalia Leksa

• Department of Neurology, MSWiA Hospital, Rzeszów, Poland

author

David Aebisher

• Department of Photomedicine and Physical Chemistry, Faculty of Medicine, University of Rzeszów, Rzeszów, Poland

author

Sabina Galiniak

• Department of Family Pedagogy, Faculty of Pedagogy, University of Rzeszów, Rzeszów, Poland

author

Dominika Uberman-Kluz

• Department of Neurology, MSWiA Hospital, Rzeszów, Poland
• Department of Anatomy, Faculty of Medicine, University of Rzeszów, Rzeszów, Poland
• Department of Biochemistry and General Chemistry, Faculty of Medicine, University of Rzeszów, Rzeszów, Poland

author

Serweryn Bartosz

• Department of Neurology, MSWiA Hospital, Rzeszów, Poland

author

Dorota Bartusik-Aebisher

• Department of Family Pedagogy, Faculty of Pedagogy, University of Rzeszów, Rzeszów, Poland

Identifiers

DOI

10.15584/ejcem.2019.3.13