еКорпус – библиографски запис
Diagnostic imaging and biochemical findings of rare inherited X-linked adrenoleukodystrophy in a child
Морфолошки и биохемијски показатељи ретке наследне адренолеукодистрофије везане за Х-хромозом код детета
- Часопис
- Serbian Archives of Medicine
- Објављено
- Srp Arh Celok Lek. 2017;145(3–4):188–191.
- Врста рада
- CASE REPORTS
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 early-stage cerebral ALD.
Keywords: X-linked adrenoleukodystrophy; fatty acids; MRI