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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2020
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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. |
format | Online Article Text |
id | pubmed-7494412 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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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