I型黏多糖贮积症与双侧视盘水肿
Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema.
作者信息
Gratton Sean M, Neerukonda Thanuja
机构信息
Departments of Neurology and Ophthalmology, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
出版信息
Neuroophthalmology. 2018 Oct 5;43(6):394-396. doi: 10.1080/01658107.2018.1520903. eCollection 2019 Dec.
Abstract
Mucopolysaccharidosis type I (MPS I or Hurler syndrome) is a multisystem genetic disorder caused by α-L-iduronidase (IDUA) deficiency, which leads to widespread accumulation of glycosaminoglycans triggering tissue damage and organ dysfunction. A variety of ocular manifestations have been described in Hurler Syndrome. We present the case of an 11-year-old boy with Hurler Syndrome and optic disc edema related to ocular glycosaminoglycan deposition. This report advances the idea that the optic nerve swelling seen in MPS I is likely influenced as much by biomechanical changes at the optic nerve head as by increased intracranial pressure.
摘要
I型粘多糖贮积症（MPS I或Hurler综合征）是一种多系统遗传性疾病，由α-L-艾杜糖醛酸酶（IDUA）缺乏引起，导致糖胺聚糖广泛蓄积，引发组织损伤和器官功能障碍。Hurler综合征有多种眼部表现。我们报告一例11岁患Hurler综合征的男孩，其视盘水肿与眼部糖胺聚糖沉积有关。本报告提出了这样一种观点，即MPS I中所见的视神经肿胀可能同样受到视神经乳头生物力学变化和颅内压升高的影响。
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本文引用的文献
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2
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Acta Ophthalmol. 2012 Aug;90(5):445-8. doi: 10.1111/j.1755-3768.2010.02085.x. Epub 2011 Jan 14.
3
Sonographic ocular findings in patients with mucopolysaccharidoses I, II and VI.黏多糖贮积症I型、II型和VI型患者的超声眼部检查结果
Pediatr Radiol. 2008 May;38(5):543-50. doi: 10.1007/s00247-008-0788-y. Epub 2008 Feb 26.
4
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Arch Ophthalmol. 2007 Oct;125(10):1353-6. doi: 10.1001/archopht.125.10.1353.
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Ocular findings in four children with mucopolysaccharidosis I-Hurler (MPS I-H) treated early with haematopoietic stem cell transplantation.4例黏多糖贮积症I型（Hurler综合征，MPS I-H）患儿早期接受造血干细胞移植后的眼部表现
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6
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