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

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.