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

Research output: Contribution to journalArticle

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.
LanguageEnglish
Pages188-191
Number of pages4
JournalSrpski Arhiv Za Celokupno Lekarstvo
Volume145
Issue number3-4
DOIs
StatePublished - 2017

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Adrenoleukodystrophy
Diagnostic Imaging
Occipital Lobe
Parietal Lobe
Inborn Genetic Diseases
Brain
X Chromosome
Rare Diseases
Fatty Acids
Magnetic Resonance Imaging
Physicians
Mutation

Keywords

  • X-linked adrenoleukodystrophy
  • fatty acids
  • MRI

Cite this

Serapinas, D., Bartkevičienė, D., Valantinavičienė, E., Bandzevičienė, R., Pukinskaite, R., Staikūnienė, J., & Ašmonienė, V. (2017). Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child. Srpski Arhiv Za Celokupno Lekarstvo, 145(3-4), 188-191. DOI: 10.2298/SARH160331050S

Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child. / Serapinas, Danielius; Bartkevičienė, Daiva ; Valantinavičienė, Emilija ; Bandzevičienė, Rita ; Pukinskaite, Ruta ; Staikūnienė, Jūratė ; Ašmonienė, Virginija .

In: Srpski Arhiv Za Celokupno Lekarstvo, Vol. 145, No. 3-4, 2017, p. 188-191.

Research output: Contribution to journalArticle

Serapinas, D, Bartkevičienė, D, Valantinavičienė, E, Bandzevičienė, R, Pukinskaite, R, Staikūnienė, J & Ašmonienė, V 2017, 'Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child' Srpski Arhiv Za Celokupno Lekarstvo, vol. 145, no. 3-4, pp. 188-191. DOI: 10.2298/SARH160331050S
Serapinas D, Bartkevičienė D, Valantinavičienė E, Bandzevičienė R, Pukinskaite R, Staikūnienė J et al. Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child. Srpski Arhiv Za Celokupno Lekarstvo. 2017;145(3-4):188-191. Available from, DOI: 10.2298/SARH160331050S
Serapinas, Danielius ; Bartkevičienė, Daiva ; Valantinavičienė, Emilija ; Bandzevičienė, Rita ; Pukinskaite, Ruta ; Staikūnienė, Jūratė ; Ašmonienė, Virginija . / Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child. In: Srpski Arhiv Za Celokupno Lekarstvo. 2017 ; Vol. 145, No. 3-4. pp. 188-191
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