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Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child
2017
Srpski Arhiv za Celokupno Lekarstvo
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
doi:10.2298/sarh160331050s
fatcat:ovnjd5hjk5ejtg45nxjjitzcwi