Adrenoleukodystrophy linked to Chromosome X with Neuropsychiatric Symptoms and Frontal Involvement: Case Report

Abstract

Leukodystrophies are a rare group of genetic disorders that affect white matter of the central and peripheral nervous system. We present a clinical case of X-linked adrenoleukodystrophy (X-ALD) in a 9-year old male patient. The patient initially presented with neuropsychiatric symptoms characterized by impulsiveness, hyperactivity, and loss of reading and writing abilities. MRI scan showed a frontal involvement of both cerebral hemispheres. Based on this experience, we recommend that patients with hyperactivity and impulsiveness, and loss of previously acquired abilities such as reading and writing should be thoroughly evaluated to rule out the presence of X-ALD. After making the diagnosis with a complete serum fatty acid profile accompanied by the radiologic findings aforementioned, the patient underwent bone marrow transplant, without a favorable outcome after one year of follow-up.