Kimura Motoya, Azuma Yoshiteru, Taguchi Soutarou, Takagi Mizuki, Mori Hiromitsu, Shimomura Yasuto, Niwa Jun-Ichi, Doyu Manabu, Okumura Akihisa
Department of Pediatrics, Aichi Medical University, Nagakute, Japan; Department of Neurology, Aichi Medical University, Nagakute, Japan.
Department of Pediatrics, Aichi Medical University, Nagakute, Japan.
Brain Dev. 2022 May;44(5):343-346. doi: 10.1016/j.braindev.2022.01.003. Epub 2022 Feb 4.
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.
亨特综合征（黏多糖贮积症II型，MPS II）是一种由艾杜糖醛酸-2-硫酸酯酶缺乏引起的X连锁溶酶体贮积病。最近，有报道称亨特综合征导致栓塞引起中风。在此，我们报告一例23岁日本男性亨特综合征患者，其发生皮质下梗死的机制类似于分支动脉粥样硬化病（BAD）。
他接受了艾杜糖醛酸酶补充治疗。他出现左侧肢体无力和双眼向右侧共轭偏斜，根据MRI检查结果被诊断为影响右侧放射冠的分支动脉粥样硬化病。患者接受了阿加曲班和阿司匹林治疗。磁共振血管造影未显示脑动脉管腔狭窄的证据。使用不同翻转角演变的应用优化对比的T1采样完美成像（SPACE）显示大脑中动脉增厚。患者的血流介导的血管舒张明显降低，提示对一氧化氮的血管舒张反应受损。
与皮质下梗死相关的脑动脉壁增厚和血管舒张受损。我们应阐明亨特综合征患者脑梗死的机制。
