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

Danielius Serapinas, Daiva Bartkevičienė, Emilija Valantinavičienė, Rita Bandzevičienė, Ruta Pukinskaite, Jūratė Staikūnienė, Virginija Ašmonienė

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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.
Original languageEnglish
Pages (from-to)188-191
Number of pages4
JournalSrpski Arhiv Za Celokupno Lekarstvo
Volume145
Issue number3-4
DOIs
Publication statusPublished - 2017

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Keywords

  • X-linked adrenoleukodystrophy
  • fatty acids
  • MRI

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