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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...

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Autores principales: Jenkins, Thomas, Sarasamma, Priya, Gillett, Godfrey, Coley, Stuart, Sharrack, Basil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications 2011
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.
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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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