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Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement

X-linked adrenoleukodystrophy (X-ALD) is a metabolic disorder characterized by endocrine and neurological degeneration. A rare and variegated entity in adults, diagnosis is often a significant challenge and can lead to extensive testing, including invasive procedures if clinical suspicion is not hig...

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Detalles Bibliográficos
Autores principales: Mannari, Aniruddh, Wiggins, Brandon, Bachuwa, Ghassan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7494412/
https://www.ncbi.nlm.nih.gov/pubmed/32953324
http://dx.doi.org/10.7759/cureus.9813
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author Mannari, Aniruddh
Wiggins, Brandon
Bachuwa, Ghassan
author_facet Mannari, Aniruddh
Wiggins, Brandon
Bachuwa, Ghassan
author_sort Mannari, Aniruddh
collection PubMed
description X-linked adrenoleukodystrophy (X-ALD) is a metabolic disorder characterized by endocrine and neurological degeneration. A rare and variegated entity in adults, diagnosis is often a significant challenge and can lead to extensive testing, including invasive procedures if clinical suspicion is not high. We present the case of a 46-year-old-male with neurological dysfunction that is uncommon in X-ALD with preserved adrenocortical function. Initially misdiagnosed with multiple sclerosis, the patient faced a significant neurological and cognitive decline in a short follow-up time frame, ultimately losing meaningful independent function. Emphasis is placed on criteria for appropriate discernment based on imaging studies and previous literature data. We also highlight the value of shared decision making to maximize the quality of life in such advanced stage neurodegenerative disorders.
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spelling pubmed-74944122020-09-18 Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement Mannari, Aniruddh Wiggins, Brandon Bachuwa, Ghassan Cureus Endocrinology/Diabetes/Metabolism X-linked adrenoleukodystrophy (X-ALD) is a metabolic disorder characterized by endocrine and neurological degeneration. A rare and variegated entity in adults, diagnosis is often a significant challenge and can lead to extensive testing, including invasive procedures if clinical suspicion is not high. We present the case of a 46-year-old-male with neurological dysfunction that is uncommon in X-ALD with preserved adrenocortical function. Initially misdiagnosed with multiple sclerosis, the patient faced a significant neurological and cognitive decline in a short follow-up time frame, ultimately losing meaningful independent function. Emphasis is placed on criteria for appropriate discernment based on imaging studies and previous literature data. We also highlight the value of shared decision making to maximize the quality of life in such advanced stage neurodegenerative disorders. Cureus 2020-08-17 /pmc/articles/PMC7494412/ /pubmed/32953324 http://dx.doi.org/10.7759/cureus.9813 Text en Copyright © 2020, Mannari et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Endocrinology/Diabetes/Metabolism
Mannari, Aniruddh
Wiggins, Brandon
Bachuwa, Ghassan
Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement
title Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement
title_full Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement
title_fullStr Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement
title_full_unstemmed Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement
title_short Adult-Onset Cerebral Adrenoleukodystrophy Without Adrenal Gland Involvement
title_sort adult-onset cerebral adrenoleukodystrophy without adrenal gland involvement
topic Endocrinology/Diabetes/Metabolism
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7494412/
https://www.ncbi.nlm.nih.gov/pubmed/32953324
http://dx.doi.org/10.7759/cureus.9813
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