Adrenoleukodystrophy: A Rare Clinical Scenario

Abstract

Background: Adrenoleukodystrophy is a genetic disorder involving the peroxisomes, that leads to defects in beta-oxidation and collection of very long-chain fatty acids. Blaw, in the year 1970 for the first time introduced the term “adrenoleukodystrophy” as a distinct disease with X-linked inheritance and thought to be a metabolic disorder due to enzymes affecting both the adrenal cortex and cerebral white matter. Presently, it is known to be caused secondary to a defect in ABCD1gene on X q28 (ATP - binding cassette, subfamily D [ALD], member 1) gene that results in a defect in peroxisomal beta-oxidation. Aim: To highlight the rare clinical presentation of adrenoleukodystophy attending to psychiatry outpatient department (OPD). Methods: A thorough psychiatric history and clinical evaluation, a complete metabolic profiling, and genetic analysis by exome sequencing test to confirm the diagnosis, following MRI findings suggestive of leukodystrophy. Results: A 14-year-old boy presenting with behavioral abnormality, difficulty in motor coordination, and disinhibited behavior, for about 1 year, presenting to Psychiatry OPD, was found to have white matter hyperintensity suggestive of leukodystophy. A genetic study revealed a hemizygous, pathogenic variant in the ABCD1 gene, elevation of C26.0 levels, and an increased ratio of C24/22 and C26/22. Later his brother was reported to have behavioral abnormality and was found to have the same genetic findings. Conclusion: The clinical scenario of ALD can be diverse and confusing. Therefore, keeping in mind the rare possibility will provide genetic testing and further management promptly.

Keywords

• <i>abcd1</i> gene
• adrenoleukodystrophy
• case report
• very long-chain fatty acids