Data_Sheet_1_Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I.PDF

Mucopolysaccharidosis (MPS) type I is a rare lysosomal storage disorder caused by an accumulation of glycosaminoglycans (GAGs) resulting in multisystem disease. Neurological morbidity includes hydrocephalus, spinal cord compression, and cognitive decline. While many neurological symptoms have been described, stroke is not a widely-recognized manifestation of MPS I. Accordingly, patients with MPS I are not routinely evaluated for stroke, and there are no guidelines for managing stroke in patients with this disease. We report the case of a child diagnosed with MPS I who presented with overt stroke and repeated neurological symptoms with imaging findings for severe ventriculomegaly, infarction, and bilateral terminal carotid artery stenosis. Direct intracranial pressure evaluation proved negative for hydrocephalus. The patient was subsequently treated with cerebral revascularization and at a 3-year follow-up, the patient reported no further neurological events or new ischemia on cerebral imaging. Cerebral arteriopathy in patients with MPS I may be associated with GAG accumulation within the cerebrovascular system and may predispose patients to recurrent strokes. However, further studies are required to elucidate the etiology of cerebrovascular arteriopathy in the setting of MPS I. Although the natural history of steno-occlusive arteriopathy in patients with MPS I remains unclear, our findings suggest that cerebral revascularization is a safe treatment option that may mitigate the risk of future strokes and should be strongly considered within the overall management guidelines for patients with MPS I.黏多糖贮积症I型（Mucopolysaccharidosis type I, MPS I）是一种罕见的溶酶体贮积症（lysosomal storage disorder），由糖胺聚糖（glycosaminoglycans, GAGs）蓄积引发，可累及多系统。其神经系统并发症包括脑积水、脊髓压迫及认知功能减退。尽管已有诸多神经系统症状的相关报道，但脑卒中（stroke）并非MPS I被广泛认可的临床表现。因此，临床通常不会对MPS I患者开展脑卒中常规筛查，且目前尚无针对该病患者脑卒中管理的专属指南。本文报告1例确诊MPS I的儿童患者：该患者以显性脑卒中及反复发作的神经系统症状为首发表现，影像学检查提示存在重度脑室扩大（ventriculomegaly）、脑梗死（infarction）及双侧颈内动脉（carotid artery）终末段狭窄。颅内压直接监测结果排除了脑积水。患者随后接受了脑血管重建术（cerebral revascularization）治疗，术后3年随访显示，患者未再出现神经系统事件，颅脑影像学也未发现新发缺血病灶。MPS I患者的脑血管病变可能与糖胺聚糖在脑血管系统内蓄积相关，这可能使患者易于发生复发性脑卒中。不过，仍需进一步研究阐明MPS I背景下脑血管狭窄闭塞性病变（steno-occlusive arteriopathy）的具体病因。尽管MPS I患者狭窄闭塞性脑血管病变的自然病程尚不清楚，但本研究结果提示，脑血管重建术是一种安全的治疗手段，可降低未来脑卒中的发生风险，因此应在MPS I患者的综合管理指南中予以重点考量。