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

Danielius Serapinas | Zendy; Daiva Bartkevičienė | Zendy; Emilija Valantinavičienė | Zendy; Rita Bandzevičienė | Zendy; Rūta Pukinskaitė | Zendy; Jūratė Staikūnienė | Zendy; Virginija Ašmonienė | Zendy

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

Author(s) -

Danielius Serapinas,

Daiva Bartkevičienė,

Emilija Valantinavičienė,

Rita Bandzevičienė,

Rūta Pukinskaitė,

Jūratė Staikūnienė,

Virginija Ašmonienė

Publication year - 2017

Publication title -

srpski arhiv za celokupno lekarstvo

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.135

H-Index - 17

eISSN - 2406-0895

pISSN - 0370-8179

DOI - 10.2298/sarh160331050s

Subject(s) - adrenoleukodystrophy , medicine , magnetic resonance imaging , genetic testing , pathology , genetic counseling , rare disease , disease , peroxisome , radiology , genetics , biology , receptor

. 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

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