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Atypical X-linked adrenoleukodystrophy: new MRI observations with FLAIR, magnetization transfer contrast, diffusion
1Department of Radiology, Ege University Hospital, Bornova, Izmir, 35100, Turkey. rnsener@hotmail.com
Abstract:
An 11-year-old boy with an atypical form of X-linked adrenoleukodystrophy is reported predominantly involving the frontal lobes, and later spreading to temporal lobes. Magnetization transfer contrast T1-weighted, and FLAIR images without intravenous paramagnetic contrast medium, clearly identified the leading edge of a central necrotic zone, as well as a splenial lesion. Zonal differences were identified on ADC maps of an echo-planar diffusion MRI sequence that the ADC value of central zone (2.06 x 10(-3) mm(2)/sec) was higher than that of the peripheral zone (1.67 x 10(-3) mm(2)/sec). On proton spectroscopy, besides changes in the peaks of NAA, choline, and myoinositol, prominent peaks between 0.9 and 1.4 ppm were shown belonging to macromolecules, probably to very long chain fatty acids, a diagnostic feature of adrenoleukodystrophy. In addition, a distinct and prominent glycine peak was observed at 3.50 ppm, reflecting excitotoxic brain damage.
Insights
This study reports an 11-year-old boy with X-linked adrenoleukodystrophy (X-ALD) affecting the brain. MRI and spectroscopy revealed key diagnostic features, including very long chain fatty acids and glycine peaks, indicating brain damage.
Area of Science:
- Neuroimaging
- Biochemistry
- Genetics
Background:
- X-linked adrenoleukodystrophy (X-ALD) is a rare genetic disorder affecting the adrenal glands and white matter of the central nervous system.
- Atypical presentations of X-ALD can pose diagnostic challenges, necessitating advanced imaging and spectroscopic techniques for accurate identification.
- Early and accurate diagnosis is crucial for managing X-ALD and potentially mitigating disease progression.
Observation:
- A case study of an 11-year-old boy with an atypical frontal and temporal lobe involvement of X-ALD.
- Magnetization transfer contrast T1-weighted and FLAIR MRI sequences effectively delineated necrotic zones and splenial lesions without contrast.
- Diffusion MRI (echo-planar) revealed zonal differences in ADC values, with higher values in the central necrotic zone compared to the peripheral zone.
Findings:
- Proton spectroscopy identified characteristic macromolecule peaks (0.9–1.4 ppm), indicative of very long chain fatty acids, a hallmark of X-ALD.
- Distinct glycine peaks at 3.50 ppm were observed, suggesting excitotoxic brain damage.
- ADC values differed significantly between central (2.06 x 10(-3) mm(2)/sec) and peripheral (1.67 x 10(-3) mm(2)/sec) zones of the lesions.
Implications:
- Advanced MRI techniques, including diffusion and spectroscopy, are valuable tools for diagnosing atypical X-ALD presentations.
- The identification of very long chain fatty acids and glycine peaks provides crucial biochemical markers for X-ALD.
- Understanding the imaging and spectroscopic characteristics aids in early detection and management strategies for X-ALD patients.