X-linked Adrenoleukodystrophy Masquerading as Mood Disorder in an Adolescent Boy

Abstract

X-linked adrenoleukodystrophy (ALD) is a demyelinating neurodegenerative disease of the brain with neurological manifestations in the majority of cases. However, a small proportion of cases also present solely with psychiatric symptoms. Here, we discuss the case of a 13-year-old boy presenting with mood symptoms, behavioral changes, and cognitive impairment. A neurodegenerative disease was suspected based on the atypical findings in history and abnormal neurological examination. Neuroimaging and pathogenic variations in the ABCD1 gene confirmed the diagnosis. Thorough history and detailed examination remain the cornerstone in arriving at the right diagnosis, aided by need-based advanced investigations.