Contribution of MRI to the diagnosis of cerebral lesions of adrenoleukodystrophy
Abstract
33 cases of adrenoleukodystrophy in children have been studied. Brain MRI was performed in these patients in order to appreciate the benefits of this technic in patients presenting with the cerebral type of ALD [21]. 12 neurologically asymptomatic patients with the same biochemical disorder were studied. In both groups, MRI is the best imaging modality. In symptomatic patients lesions were clearly demonstrated with excellent clinical correlations. In addition, MRI can depict brain lesions in asymptomatic patients before devastating brain damage occurs. MRI is the essential step before proposing specific treatment to these patients.
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At more advanced stages, typical confluent and symmetrical areas of T2 hyperintensity reflect demyelination in the splenium of the corpus callosum, parieto-occipital or frontal white matter, or pyramidal tracts within the internal capsules, pons, and brainstem.
“At more advanced stages, typical confluent and symmetrical areas of T2 hyperintensity reflect demyelination in the splenium of the corpus callosum, parieto-occipital or frontal white matter, or pyramidal tracts within the internal capsules, pons, and brainstem.”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [93]
Gadolinium extravasation, a hallmark of neuroinflammation and blood-brain barrier breach, can occur early when demyelinating lesions are still restricted to the corpus callosum or pyramidal tracts but is often seen later, once lesions have extended.
“Gadolinium extravasation, a hallmark of neuroinflammation and blood–brain barrier (BBB) breach, can occur early when demyelinating lesions are still restricted to the corpus callosum or pyramidal tracts but is often seen later, once the demyelinating lesions have extended [31,93,94].”
From Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy (2025) · cites this paper as [93]
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Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy
Bougnères, P., & Le Stunff, C. (2025) · Genes · doi:10.3390/genes16050590 · Cited by 11 · see citing works
Anomalies cérébrales subtiles de l’Adrénomyéloneuropathie
Teriitehau, C., Adamsbaum, C., Merzoug, V., Kalifa, G., Tourbah, A., & Aubourg, P. (2007) · Journal de Radiologie · doi:10.1016/s0221-0363(07)89902-1 · Cited by 10 · see citing works
Self-citation
- Authors
- Pasco, A., Kalifa, G., Sarrazin, J. L., Adamsbaum, C., & Aubourg, P.
- Affiliations
- Inserm (FR)
- Hôpital Saint-Vincent-de-Paul (FR)
- ORCID
- Adamsbaum, C.
- Venue
- Pediatric Radiology
- Published
- 1991-04
- Volume
- 21
- Issue
- 3
- Pages
- 161-163
- ISSN
- 0301-0449 (ISSN-L)
- 1432-1998
- OpenAlex
- W2058404494
- Cited by
- 16
- References
- 0
- Citations by year
- 2025: 1 · 2022: 1 · 2020: 1 · 2018: 2 · 2013: 1
- FWCI
- 0.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Pediatric Radiology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
- Keywords
- adrenoleukodystrophy, cerebral adrenoleukodystrophy, brain MRI, brain lesions, children, asymptomatic patients, neuroimaging, disease diagnosis
- MeSH terms
- Adolescent, Adrenoleukodystrophy, Adult, Child, Humans, Magnetic Resonance Imaging, Male
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