Adrenoleukodystrophy (ALD)
https://pmc.ncbi.nlm.nih.gov/articles/PMC12893433
Adrenoleukodystrophy (ALD) is a rare inherited condition that affects the nervous system. In many boys and men with ALD, a serious form called cerebral adrenoleukodystrophy (CALD) can develop, causing rapid damage to the brain. Without treatment, CALD can lead to severe disability or loss of life within a few years. However, treatments such as stem cell transplantation can stop disease progression if CALD is detected early. Regular brain MRI scans are therefore essential for monitoring people with ALD. Despite the importance of MRI, hospitals around the world use different scanning protocols, which can make it harder to identify early disease changes and compare results between centres. To address this issue, an international group of 30 experts from nine countries worked together to develop consensus recommendations for the use of MRI in ALD. Using a structured process called the Delphi method, the experts agreed on a core MRI protocol that should be used for routine screening and follow-up. This protocol includes four key MRI sequences: 3D T1-weighted imaging, T2-weighted imaging, 3D FLAIR imaging, and diffusion-weighted imaging (DWI). The experts also recommended the use of contrast-enhanced MRI in specific clinical situations and supported the use of DWI, alongside established scoring methods, to monitor disease activity. The group also identified promising MRI techniques for future research, including diffusion tensor imaging (DTI), MRI perfusion imaging, and quantitative measurements of brain lesion size. These recommendations provide a practical, standardised approach to MRI in ALD, helping clinicians detect CALD earlier, monitor disease progression more accurately, and improve treatment decisions and outcomes for patients.