Adrenoleukodystrophy (X-Linked Adrenoleukodystrophy): MRI White Matter Disease in Adults – Pathophysiology, Imaging Features, Diagnosis, and Management
Introduction Adrenoleukodystrophy (ALD) is one of the most clinically important genetic leukodystrophies , characterized by progressive white matter degeneration , adrenal insufficiency, and variable neurological manifestations. Among its forms, X-linked adrenoleukodystrophy (X-ALD) is the most common and clinically relevant, with diverse phenotypes ranging from childhood cerebral disease to adult-onset myeloneuropathy. Although classically considered a pediatric disorder, adult-onset cerebral adrenoleukodystrophy and symptomatic female carriers are increasingly recognized due to advances in MRI , genetic testing , and biochemical assays . This article presents a 26-year-old woman with seizures diagnosed with adrenoleukodystrophy , illustrating the imaging spectrum , diagnostic approach , and clinical implications of this rare but devastating disease. This comprehensive review integrates the attached case images , current international consensus guidelines , and landmar...