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Multiple sclerosis in an adrenoleukodystrophy carrier
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder, in which accumulation of very long chain fatty acids (VLCFAs) results in damage to the central nervous system. As the disease is X-linked, males are affected severely, but female carriers may also present with neurological...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981411/ https://www.ncbi.nlm.nih.gov/pubmed/24765366 http://dx.doi.org/10.4081/cp.2011.e125 |
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author | Jenkins, Thomas Sarasamma, Priya Gillett, Godfrey Coley, Stuart Sharrack, Basil |
author_facet | Jenkins, Thomas Sarasamma, Priya Gillett, Godfrey Coley, Stuart Sharrack, Basil |
author_sort | Jenkins, Thomas |
collection | PubMed |
description | X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder, in which accumulation of very long chain fatty acids (VLCFAs) results in damage to the central nervous system. As the disease is X-linked, males are affected severely, but female carriers may also present with neurological symptoms. We report the case of a young adult female, who presented with episodic sensorimotor symptoms. Although she was a heterozygous female carrier of X-ALD, subsequent investigations confirmed a diagnosis of multiple sclerosis (MS). To the best of our knowledge, this is the first reported case of a female X-ALD carrier in which the clinical features were more consistent with co-existent MS than ALD-related pathology. The case serves as a reminder that alternative, more common diagnoses should also be considered in carriers of rare neurological syndromes. |
format | Online Article Text |
id | pubmed-3981411 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | PAGEPress Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-39814112014-04-24 Multiple sclerosis in an adrenoleukodystrophy carrier Jenkins, Thomas Sarasamma, Priya Gillett, Godfrey Coley, Stuart Sharrack, Basil Clin Pract Case Report X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disorder, in which accumulation of very long chain fatty acids (VLCFAs) results in damage to the central nervous system. As the disease is X-linked, males are affected severely, but female carriers may also present with neurological symptoms. We report the case of a young adult female, who presented with episodic sensorimotor symptoms. Although she was a heterozygous female carrier of X-ALD, subsequent investigations confirmed a diagnosis of multiple sclerosis (MS). To the best of our knowledge, this is the first reported case of a female X-ALD carrier in which the clinical features were more consistent with co-existent MS than ALD-related pathology. The case serves as a reminder that alternative, more common diagnoses should also be considered in carriers of rare neurological syndromes. PAGEPress Publications 2011-11-30 /pmc/articles/PMC3981411/ /pubmed/24765366 http://dx.doi.org/10.4081/cp.2011.e125 Text en ©Copyright T. Jenkins et al., 2011 This work is licensed under a Creative Commons Attribution NonCommercial 3.0 License (CC BY-NC 3.0). Licensee PAGEPress, Italy |
spellingShingle | Case Report Jenkins, Thomas Sarasamma, Priya Gillett, Godfrey Coley, Stuart Sharrack, Basil Multiple sclerosis in an adrenoleukodystrophy carrier |
title | Multiple sclerosis in an adrenoleukodystrophy carrier |
title_full | Multiple sclerosis in an adrenoleukodystrophy carrier |
title_fullStr | Multiple sclerosis in an adrenoleukodystrophy carrier |
title_full_unstemmed | Multiple sclerosis in an adrenoleukodystrophy carrier |
title_short | Multiple sclerosis in an adrenoleukodystrophy carrier |
title_sort | multiple sclerosis in an adrenoleukodystrophy carrier |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3981411/ https://www.ncbi.nlm.nih.gov/pubmed/24765366 http://dx.doi.org/10.4081/cp.2011.e125 |
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