Indian Journal of Private Psychiatry

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VOLUME 18 , ISSUE 1 ( January-June, 2024 ) > List of Articles

CASE REPORT

Adrenoleukodystrophy: A Rare Clinical Scenario

Antara Kunwar, Jitendriya Biswal

Keywords : ABCD1 gene, Adrenoleukodystrophy, Case report, Very long-chain fatty acids

Citation Information : Kunwar A, Biswal J. Adrenoleukodystrophy: A Rare Clinical Scenario. Ind J Priv Psychiatry 2024; 18 (1):45-47.

DOI: 10.5005/jp-journals-10067-0157

License: CC BY-NC 4.0

Published Online: 03-01-2024

Copyright Statement:  Copyright © 2024; The Author(s).


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.


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