Abstract
Introduction
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).
Case presentation
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.
Conclusion
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.
Keywords
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Article info
Publication history
Published online: February 03, 2022
Accepted:
January 16,
2022
Received in revised form:
December 16,
2021
Received:
September 20,
2021
Identification
Copyright
© 2022 The Japanese Society of Child Neurology Published by Elsevier B.V. All rights reserved.
