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Srpski arhiv za celokupno lekarstvo 2017 Volume 145, Issue 3-4, Pages: 188-191
https://doi.org/10.2298/SARH160331050S
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Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child

Serapinas Danielius (Lithuanian University of Health Sciences, Medical Academy, Department of Genetics and molecular medicine, Kaunas, Lithuania + Mykolas Romeris university, Institute of Psychology, Vilnius, Lithuania)
Bartkeviciene Daiva (Vilnius University, Faculty of Medicine, Department of Obstetrics and Gynecology, Vilnius, Lithuania)
Valantinaviciene Emilija (Lithuanian University of Health Sciences, Medical Academy, Department of Genetics and molecular medicine, Kaunas, Lithuania)
Bandzeviciene Rita (Mykolas Romeris university, Institute of Psychology, Vilnius, Lithuania)
Pukinskaite Ruta (Mykolas Romeris university, Institute of Psychology, Vilnius, Lithuania)
Staikuniene Jurate (Lithuanian University of Health Sciences, Medical Academy, Department of Pulmonology and immunology, Kaunas, Lithuania)
Asmoniene Virginija (Lithuanian University of Health Sciences, Medical Academy, Department of Genetics and molecular medicine, Kaunas, Lithuania)

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.

Keywords: X-linked adrenoleukodystrophy, fatty acids, MRI