Hunter syndrome (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Recently, stroke caused by embolization with Hunter syndrome has been reported. Here, we report the case of a 23-year-old Japanese man with Hunter syndrome who developed subcortical infarction by the mechanism similar to branch atheromatous disease (BAD).
He had been treated with idursulfase supplementation. He presented with left-sided weakness and conjugate eye deviation to the right, and was diagnosed with branch atheromatous disease affecting the right corona radiata, based on MRI findings. The patient was treated with argatroban and aspirin. Magnetic resonance angiography demonstrated no evidence of luminal narrowing of the cerebral arteries. T1-sampling perfection with application-optimized contrasts by using different flip angle evolutions (SPACE) imaging revealed thickened middle cerebral artery. The patient had markedly low flow-mediated vasodilation, suggesting impaired vasodilation in response to nitric monoxide.
The arterial wall thickening and impaired vasodilation in the cerebral arteries related to subcortical infarction. We should clarify the mechanism of cerebral infarction in Hunter syndrome patients.
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L.R. Caplan Intracranial branch atheromatous disease: A neglected, understudied, and underused concept Neurology 39 9 1989 1246 1246
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Published online: February 03, 2022
Accepted: January 16, 2022
Received in revised form: December 16, 2021
Received: September 20, 2021
© 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.