Abstract Title Unveiling the Unusual: Adrenoleukodystrophy and Paraphilia - A Rare Case Study Background X-linked adrenoleukodystrophy (ALD) is a rare genetic disorder affecting approximately 1 in 21,000 males, primarily impacting the white matter of the nervous system and the adrenal cortex. The cerebral forms of ALD, including childhood, adolescent, and adult variants, typically present initially with symptoms such as hyperactivity or inattention, followed by a progressive decline in cognitive, motor, visual, and auditory functions. Here, we present the case of a 22- year-old male with ALD, who exhibits paraphilia along with neuropsychiatric manifestations of ALD, a unique presentation that has been scarcely documented. Case Presentation A 22-year-old male with a medical history significant for adrenoleukodystrophy, seizure disorder, Asperger syndrome, Attention-Deficit/Hyperactivity Disorder, progressive hearing and visual loss was admitted due to altered mental status. His adoptive mother reported developmental delays and social cue difficulties since childhood, with a decline in functionality beginning in October 2023. Neuro-ophthalmological evaluation for progressive vision loss, led to a subsequent MRI which showed diffuse periventricular and subcortical white matter hyperintensities involving parietal, occipital, temporal, and frontal regions. Elevated very long chain fatty acids (VLCFA) confirmed ALD diagnosis. A month after admission, he developed compulsive rectal picking and digital manipulation leading to rectal bleeding. Psychiatry suggested that it could be due to either OCD-type skin picking or a gratifying sexual compulsion. The nursing staff reported frequent episodes of uncontrollable impulses for aggressive rectal digital manipulation ending in ejaculation, over the past three months, necessitating the use of restraints and mittens for his safety. Despite treatments including Paroxetine, risperidone, and anti-androgens, no improvement was noted. Guanfacine was later initiated to enhance frontal inhibition, yet efficacy remained limited. Upon discharge, transitioning to a group home was planned. Discussion ALD is a disorder in which defective beta-oxidation leads to the accumulation of very long-chain fatty acids in peroxisomes. It typically presents with neurobehavioral disturbances starting in childhood. The patient's behavioral symptoms began in childhood but were never formally evaluated. We believe an undiagnosed ALD might have contributed to his symptoms. ALD usually leads to hyposexuality due to adrenal insufficiency. However, our patient exhibited recurrent rectal digital stimulation suggesting impulsivity and disinhibition, which is a distinctive presentation. We hypothesize that the patient's paraphilia may be linked to his frontal lobe involvement. No evidence of adrenal insufficiency was observed in his labs. We emphasize the importance of considering ALD as a differential diagnosis when evaluating patients with neuropsychiatric disturbances, as it is a progressive and debilitating condition