Multiple sclerosis in an adrenoleukodystrophy carrier

  • Thomas Jenkins Department of Neurology; Sheffield Institute for Translational Neuroscience, Royal Hallamshire Hospital, Sheffield, United Kingdom.
  • Priya Sarasamma Department of Neurology, Royal Hallamshire Hospital, Sheffield, United Kingdom.
  • Godfrey Gillett Department of Clinical Chemistry, Royal Hallamshire Hospital, Sheffield, United Kingdom.
  • Stuart Coley Department of Neuroradiology, Royal Hallamshire Hospital, Sheffield, United Kingdom.
  • Basil Sharrack | Basil.Sharrack@sth.nhs.uk Department of Neurology; Sheffield Institute for Translational Neuroscience, Royal Hallamshire Hospital, Sheffield, United Kingdom.

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.

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Author Biographies

Thomas Jenkins, Department of Neurology; Sheffield Institute for Translational Neuroscience, Royal Hallamshire Hospital, Sheffield

Clinical Lecturer,

Department of Neurology

Priya Sarasamma, Department of Neurology, Royal Hallamshire Hospital, Sheffield

Registrar in Neurology,

Royal Hallamshire Hospital, Sheffield

Godfrey Gillett, Department of Clinical Chemistry, Royal Hallamshire Hospital, Sheffield

Consultant

Department of Clinical Chemistry

Stuart Coley, Department of Neuroradiology, Royal Hallamshire Hospital, Sheffield

Consultant

Department of Neuroradiology

Basil Sharrack, Department of Neurology; Sheffield Institute for Translational Neuroscience, Royal Hallamshire Hospital, Sheffield

Consultant,

Department of Neurology

Published
2011-11-30
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Section
Case Reports
Keywords:
multiple sclerosis, adrenoleukodystrophy.
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How to Cite
Jenkins, T., Sarasamma, P., Gillett, G., Coley, S., & Sharrack, B. (2011). Multiple sclerosis in an adrenoleukodystrophy carrier. Clinics and Practice, 1(4), e125. https://doi.org/10.4081/cp.2011.e125