A Case of Adult-Onset Adrenoleukodystrophy with Rare Genetic Mutation

Introduction: Adrenoleukodystrophy (ALD) is an X-linked disorder with a heterogeneous clinical presentation. It is caused by mutations in the ABCD1 gene, resulting in the accumulation of very long-chain fatty acids (VLCFAs). Case Report: A 30-year-old male presented with gradually progressive cognitive decline with extrapyamidal involvement. Magnetic resonance imaging revealed white matter signal abnormalities, and genome sequencing identified a rare pathogenic variant in the ABCD1 gene, confirming the diagnosis of ALD. Discussion: Our case presented with gradually progressive psychiatric symptoms followed by cognitive, interpersonal and social decline with extrapyramidal involvement. On the basis of MRI brain findings and rare genetic mutation on whole exome sequencing, diagnosis of ALD made. Conclusion: Adult onset ALD presented with uncommon extrapyramidal symptoms and rare genetic mutation.