Adult Onset X-Linked Adrenoleukodystrophy Frontal Variant – A Case Report

Objectives: Adrenoleukodystrophy is the most common leukodystrophy in neurological practice. The clinical manifestations are secondary to an inborn error of metabolism due to a mutation on ABDCD1 gene that causes accumulation of very long-chain fatty acids on adrenal and central nervous system. Methods: We describe a case of a 28 years old man with behavior and speech alterations, adrenal insufficiency and abnormal frontal white matter signs compatible with a frontal variant of adrenoleukodystrophy, later confirmed by biochemical and genetic testing. Key findings: We found a rare variant of a rare disease, manifesting at an atypical age with unusual clinical phenotype. Conclusion: The inborn errors of metabolism clinical phenotype are highly variable and unpredictable by the genotype alone. Clinicians should pay attention to atypical clinical manifestations of these diseases.