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一名2型洛伊斯-迪茨综合征患者的急性横贯性脊髓炎：来自印度的罕见病例报告。

Acute Transverse Myelitis in a Patient With Type 2 Loeys-Dietz Syndrome: A Report of a Rare Case From India.

作者信息

Parida Swati, Pathak Abhishek, Mishra Vijaya Nath

机构信息

Department of Neurology, Kalinga Institute of Medical Sciences, Bhubaneswar, IND.

Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, IND.

出版信息

Cureus. 2024 Jul 27;16(7):e65524. doi: 10.7759/cureus.65524. eCollection 2024 Jul.

DOI:10.7759/cureus.65524
PMID:39188477
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11346573/
Abstract

Loeys-Dietz syndrome (LDS) is a very rare connective tissue disorder with autosomal dominant inheritance, characterized by the involvement of the cardiovascular, musculoskeletal, and cutaneous systems, along with dysmorphic facial features. Currently, there are limited data regarding this disease. This case presents a clinical observation of a 17-year-old boy with acute onset of sensorimotor paraparesis and genetically confirmed LDS. The predominant symptoms of LDS include arterial aneurysms, arterial tortuosity, hypertelorism, and bifid uvula. However, this constellation of symptoms is not found in all patients with the disease. Genetic confirmation is essential for an accurate diagnosis. The prognosis for LDS differs from its mimics, such as Marfan syndrome, Beals syndrome, Ehlers-Danlos syndrome, and Shprintzen-Goldberg syndrome. Management of the disease warrants a multidisciplinary approach to address its various manifestations. Such an approach can help increase the life expectancy and improve the quality of life for these patients.

摘要

洛伊斯-迪茨综合征（LDS）是一种非常罕见的常染色体显性遗传结缔组织疾病，其特征是心血管、肌肉骨骼和皮肤系统受累，伴有面部畸形特征。目前，关于这种疾病的数据有限。本病例展示了一名17岁男孩急性起病的感觉运动性轻截瘫且经基因确诊为LDS的临床观察。LDS的主要症状包括动脉瘤、动脉迂曲、眼距过宽和悬雍垂裂。然而，并非所有该疾病患者都有这一系列症状。基因确诊对于准确诊断至关重要。LDS的预后与其类似疾病不同，如马凡综合征、比尔斯综合征、埃勒斯-当洛综合征和施普林曾-戈德堡综合征。该疾病的管理需要多学科方法来应对其各种表现。这种方法有助于提高这些患者的预期寿命并改善生活质量。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/72db9eda3be1/cureus-0016-00000065524-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/805ff42c5c73/cureus-0016-00000065524-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/c1b97be5d69d/cureus-0016-00000065524-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/d5545a6c6060/cureus-0016-00000065524-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/3e12bfc99f55/cureus-0016-00000065524-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/a5360ebfa239/cureus-0016-00000065524-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/72db9eda3be1/cureus-0016-00000065524-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/805ff42c5c73/cureus-0016-00000065524-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/c1b97be5d69d/cureus-0016-00000065524-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/d5545a6c6060/cureus-0016-00000065524-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/3e12bfc99f55/cureus-0016-00000065524-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/a5360ebfa239/cureus-0016-00000065524-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b788/11346573/72db9eda3be1/cureus-0016-00000065524-i06.jpg

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本文引用的文献

1
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome?洛伊迪茨综合征患者是否被误诊为比尔综合征？
Pediatrics. 2017 Mar;139(3). doi: 10.1542/peds.2016-1281. Epub 2017 Feb 16.
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Loeys-Dietz syndrome: a primer for diagnosis and management.洛伊迪茨综合征：诊断与管理入门
Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27.
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TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome.TGFB2 突变导致家族性胸主动脉瘤和夹层，伴有马凡综合征的轻微全身特征。
Nat Genet. 2012 Jul 8;44(8):916-21. doi: 10.1038/ng.2348.
4
Spontaneous coronary artery dissection in a young woman with Loeys-Dietz syndrome.一名患有洛伊斯-迪茨综合征的年轻女性发生自发性冠状动脉夹层。
Am J Med Genet A. 2012 May;158A(5):1216-8. doi: 10.1002/ajmg.a.35277. Epub 2012 Apr 9.
5
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes.洛伊斯-迪茨综合征（TGFBR1/2）及相关表型的临床应用基因卡片
Eur J Hum Genet. 2011 Oct;19(10). doi: 10.1038/ejhg.2011.68. Epub 2011 Apr 27.
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Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.SMAD3 基因突变可导致综合征型主动脉瘤和夹层，伴发病症有早发性骨关节炎。
Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9.
7
The Loeys-Dietz syndrome: an update for the clinician.洛伊氏迪茨综合征：临床医生的最新资讯。
Curr Opin Cardiol. 2010 Nov;25(6):546-51. doi: 10.1097/HCO.0b013e32833f0220.
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Neuroradiologic manifestations of Loeys-Dietz syndrome type 1.1型洛伊斯-迪茨综合征的神经放射学表现
AJNR Am J Neuroradiol. 2009 Sep;30(8):1614-9. doi: 10.3174/ajnr.A1651. Epub 2009 Jun 25.
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Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis.转化生长因子-β信号通路在胸主动脉瘤发生发展中的作用：发病机制中的一个悖论
J Vasc Res. 2009;46(2):119-37. doi: 10.1159/000151766. Epub 2008 Sep 2.
10
Aneurysm syndromes caused by mutations in the TGF-beta receptor.由转化生长因子-β受体突变引起的动脉瘤综合征
N Engl J Med. 2006 Aug 24;355(8):788-98. doi: 10.1056/NEJMoa055695.