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先天性瞳孔散大与巨膀胱-小结肠-肠蠕动不良综合征相关。

Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome.

机构信息

Department of Ophthalmology and Visual Sciences (CM), Washington University, St Louis, Missouri, USA.

出版信息

J Neuroophthalmol. 2013 Sep;33(3):271-5. doi: 10.1097/WNO.0b013e31828b7d65.

DOI:10.1097/WNO.0b013e31828b7d65
PMID:23636104
Abstract

We report a case of congenital mydriasis in a neonate with megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS). Pilocarpine testing and gastrointestinal pathology in our patient suggest that the mydriasis is due to an underlying smooth muscle myopathy of the iris sphincter muscle. These findings may have important implications regarding the pathogenesis of MMIHS.

摘要

我们报告了一例患有巨膀胱-小结肠-肠蠕动不良综合征(MMIHS)的新生儿先天性瞳孔散大病例。我们患者的毛果芸香碱试验和胃肠道病理学检查提示,瞳孔散大是由于虹膜括约肌平滑肌肌病所致。这些发现可能对 MMIHS 的发病机制具有重要意义。

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引用本文的文献

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Clin J Gastroenterol. 2024 Jun;17(3):383-395. doi: 10.1007/s12328-024-01934-x. Epub 2024 Mar 9.
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High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.因ACTA2基因新型Asn117Lys替代导致的多系统平滑肌功能障碍综合征中的高分辨率虹膜和视网膜成像:病例报告
BMC Ophthalmol. 2020 Feb 24;20(1):68. doi: 10.1186/s12886-020-01344-w.
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Consanguinity and its relevance for the incidence of megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS): systematic review.
近亲结婚及其与巨膀胱-小结肠-肠蠕动不良综合征(MMIHS)发病率的相关性:系统评价
Pediatr Surg Int. 2019 Feb;35(2):175-180. doi: 10.1007/s00383-018-4390-6. Epub 2018 Nov 1.
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Homozygous deletion in MYL9 expands the molecular basis of megacystis-microcolon-intestinal hypoperistalsis syndrome.MYL9 基因纯合缺失扩大了巨膀胱-小肠细动过缓综合征的分子基础。
Eur J Hum Genet. 2018 May;26(5):669-675. doi: 10.1038/s41431-017-0055-5. Epub 2018 Feb 16.
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