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 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.
Department of Neurology; ; Sheffield Institute for Translational Neuroscience;
Thomas
T
Jenkins
Department of Neurology;
Priya
P
Sarasamma
Department of Clinical Chemistry;
Godfrey
G
Gillett
Department of Neuroradiology, Royal Hallamshire Hospital, Sheffield, UK.
Stuart
S
Coley
Department of Neurology; ; Sheffield Institute for Translational Neuroscience;
Basil
B
Sharrack
adrenoleukodystrophy.; multiple sclerosis