Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child-Reference-Cited by-同舟云学术

Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child

Published:2017 Issue:3-4 Volume:145 Page:188-191
ISSN:0370-8179
Container-title:Srpski arhiv za celokupno lekarstvo
language:en
Short-container-title:Srp Arh Celok Lek

Author:

Serapinas Danielius¹,Bartkeviciene Daiva²,Valantinaviciene Emilija³,Bandzeviciene Rita⁴,Pukinskaite Ruta⁴,Staikuniene Jurate⁵,Asmoniene Virginija³

Affiliation:

1. Lithuanian University of Health Sciences, Medical Academy, Department of Genetics and molecular medicine, Kaunas, Lithuania + Mykolas Romeris university, Institute of Psychology, Vilnius, Lithuania

2. Vilnius University, Faculty of Medicine, Department of Obstetrics and Gynecology, Vilnius, Lithuania

3. Lithuanian University of Health Sciences, Medical Academy, Department of Genetics and molecular medicine, Kaunas, Lithuania

4. Mykolas Romeris university, Institute of Psychology, Vilnius, Lithuania

5. Lithuanian University of Health Sciences, Medical Academy, Department of Pulmonology and immunology, Kaunas, Lithuania

Abstract

Introduction. Adrenoleukodystrophy (ALD) is a rare genetic disease, caused by mutations in ABCD1 gene located on the X chromosome (X-ALD), underdiagnosed worldwide. Case Outline. We present a clinical case of a six-year-old boy with childhood cerebral X-ALD. Magnetic resonance imaging of the patient?s brain showed bilateral lesions similar to ALD in parietal-occipital lobes of the brain. Plasma very long chain fatty acids determination test showed an elevated level of C26 and C26/C22 ratio which confirmed the diagnosis of X-ALD. Conclusion. The key point of this clinical case report is to draw attention of physicians to the earliest possible recognition of X-ALD patterns, because an effective treatment can only be established for earlystage cerebral ALD.

Publisher

National Library of Serbia

Subject

General Medicine