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Case Report

Multiple Sclerosis in an Adrenoleukodystrophy Carrier

1
Department of Neurology, Royal Hallamshire Hospital, Sheffield, UK
2
Sheffield Institute for Translational Neuroscience, Royal Hallamshire Hospital, Sheffield, UK
3
Department of Clinical Chemistry, Royal Hallamshire Hospital, Sheffield, UK
4
Department of Neuroradiology, Royal Hallamshire Hospital, Sheffield, UK
*
Author to whom correspondence should be addressed.
Clin. Pract. 2011, 1(4), e125; https://doi.org/10.4081/cp.2011.e125
Submission received: 26 October 2011 / Revised: 26 October 2011 / Accepted: 15 November 2011 / Published: 30 November 2011

Abstract

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.
Keywords: multiple sclerosis; adrenoleukodystrophy multiple sclerosis; adrenoleukodystrophy

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MDPI and ACS Style

Jenkins, T.; Sarasamma, P.; Gillett, G.; Coley, S.; Sharrack, B. Multiple Sclerosis in an Adrenoleukodystrophy Carrier. Clin. Pract. 2011, 1, e125. https://doi.org/10.4081/cp.2011.e125

AMA Style

Jenkins T, Sarasamma P, Gillett G, Coley S, Sharrack B. Multiple Sclerosis in an Adrenoleukodystrophy Carrier. Clinics and Practice. 2011; 1(4):e125. https://doi.org/10.4081/cp.2011.e125

Chicago/Turabian Style

Jenkins, Thomas, Priya Sarasamma, Godfrey Gillett, Stuart Coley, and Basil Sharrack. 2011. "Multiple Sclerosis in an Adrenoleukodystrophy Carrier" Clinics and Practice 1, no. 4: e125. https://doi.org/10.4081/cp.2011.e125

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