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X-linked adrenoleukodystrophy: Radiological assessment
The document discusses the evaluation of X-ALD (X-linked adrenoleukodystrophy) using MRI and emphasizes the LOES score as a standard despite its limitations. It explores advanced imaging techniques, including contrast enhancement, MRS, diffusion tensor imaging, and perfusion imaging, to better predict disease progression and patient outcomes. The multiparametric approach is highlighted as crucial for comprehensive assessment and management of X-ALD.
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X-linked adrenoleukodystrophy: Radiological assessment
- 1.
- 2. Summary o What’s X-ALD oMRI features of X-ADL o Loes score: still the gold standard? o Evidence of advanced MRI techniques usefulness in X-ALD
- 3. What is X-ALD? oABCD 1 gene mutation (chromosome X) o Peroxisomal membrane protein VLC fatty acids Peroxisome Short fatty acids Proteins and lipids ABCD1 Accumulation/toxicity
- 4. Toxicity in brain= demyelination MRI surrogate of histological changes ! First central and posterior involvement: Splenium, Peritrigonal white matter and Thalami … then centrifugal extension
- 5. Toxicity in brain= demyelination MRI surrogate of histological changes ! Zone A: Burned out zone of scarring, Hyper FLAIR/T2, increased MD, reduced FA, no restriction Zone B: active inflammation, enhancement and restriction Zone C: ongoing demyelination but no inflammation (images similar to A)
- 6. Variability in MRIpicture Barkovich AJ, Raybaud C 2012
- 7. No diffusion No advanced techniques T1, T2 and contrast changes all the same “weight” Loes score < 7 BMT Loes score does not take in account location Involvement of CST is associated with poorer prognosis (Kuhl et al.2017)
- 8. Multiparametric approach inevaluation of X-ALD 1) Contrast enhancement More enhancement - more inflammation Miller et al AJNR 2016 “In boys with higher- risk cerebral disease (Loes ≥ 10), enhancement score itself predicts neurologic outcome following treatment.”
- 9. Multiparametric approach inevaluation of X-ALD 2) MRS Metabolic profile predictor of severity of the disease
- 10. “changes in themarkers enabled detection of early neurochemical changes in lesion formation prior to detection of abnormalities by conventional MRI.” Ox et al 2005
- 11. Multiparametric approach inevaluation of X-ALD 3) Diffusion Tensor Imaging changes in diffusion tensor measurements might be useful to predict the disease progression. (Ono et al. 2014) Demyelination: 1) ↓FA 2) ↑MD Possible early predictor of disease. Opposite changes in inflammation edge ?? Importance of the ROI analysis and placement !! You know the pathophysiology, you know how to interpret imaging results
- 12. Multiparametric approach inevaluation of X-ALD 4) Perfusion Imaging Hypoperfusion predicts lesion progression in X-ALD. (Musolino et al. 2012; McKiney et al. 2016) “Decreased brain magnetic resonance perfusion in cerebral adrenoleukodystrophy precedes lesion progression” No clinical data on ASL
- 13. We shoulduse our experience in multiparametric imaging for brain tumors in radiological assessment of X-ALD Take Home messages Contrast enhancement Loes Score MRS Diffusion Tensor Imaging Perfusion Imaging Comprehensi ve assessment of patients with X-ALD
- 14.