Related Experiment Video
Updated: Oct 14, 2025
Diffusion Tensor Magnetic Resonance Imaging in the Analysis of Neurodegenerative Diseases
Published on: July 28, 2013
ATYPICAL MRI FINDINGS IN CEREBRAL ADRENOLEUKODYSTROPHY: A CASE REPORT
Koray Koç1, Arzu Canan1, Pınar Koç1
11Antalya Ataturk State Hospital, Department of Radiology, Antalya, Turkey; 2University of Texas Southwestern Medical Center at Dallas, Department of Radiology, Dallas, Texas, USA; 3Antalya Ataturk Training and Research Hospital, Department of Radiology, Antalya, Turkey; 4Akdeniz University, Faculty of Medicine, Department of Radiology, Antalya, Turkey; 5Akdeniz University, Faculty of Medicine, Department of Child Neurology, Antalya, Turkey.
Abstract:
Adrenoleukodystrophy is a rare X-linked hereditary disease that results in accumulation of very-long-chain fatty acids in all body tissues, thus causing demyelination of the white matter. Magnetic resonance imaging (MRI) is a reliable radiological modality to demonstrate the extension of brain lesions and severity of the disease. In the classic form, the parieto-occipital white matter is affected. Besides, atypical MRI findings such as primary frontal lobe involvement are rarely described. We report a case of adrenoleukodystrophy presenting with rare MRI findings such as bilateral symmetric frontal lobe white matter changes suggesting anterior predominance.
Insights
Adrenoleukodystrophy, a rare X-linked disease, causes demyelination. This case highlights unusual MRI findings of frontal lobe white matter changes, suggesting anterior predominance in the disease presentation.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Adrenoleukodystrophy (ALD) is a rare X-linked genetic disorder characterized by the accumulation of very-long-chain fatty acids.
- This accumulation leads to the demyelination of white matter in the central nervous system.
- Magnetic resonance imaging (MRI) is crucial for assessing the extent of brain lesions and disease severity in ALD.
Observation:
- The classic presentation of ALD on MRI typically involves the parieto-occipital white matter.
- Atypical presentations, including primary frontal lobe involvement, are infrequently reported.
- This case details a patient with ALD exhibiting rare MRI findings with bilateral symmetric frontal lobe white matter changes.
Findings:
- The observed MRI findings suggest a predominant involvement of the frontal lobes in this specific case of ALD.
- This anterior predominance represents a deviation from the typical parieto-occipital pattern seen in classic ALD.
- The case underscores the variability of radiological manifestations in Adrenoleukodystrophy.
Implications:
- Recognizing atypical MRI findings is essential for the timely diagnosis of Adrenoleukodystrophy.
- This case expands the understanding of the spectrum of radiological presentations of ALD.
- Further research into the correlation between specific genetic mutations and MRI patterns in ALD may be warranted.
