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以孤立性神经系统表现为特征的结节性硬化症非典型病例：一例报告。

Atypical case of tuberous sclerosis with isolated neurologic findings: A case report.

作者信息

Devkota Shritik, Bhatta Om Prakash, Kalikote Arun, Gyawali Prakash, Lamichhane Samiksha

机构信息

Department of Radiodiagnosis and Imaging Anil Baghi Hospital Punjab India.

Department of Radiodiagnosis and Imaging Postgraduate Institute of Medical Education and Research Chandigarh India.

出版信息

Clin Case Rep. 2024 Sep 3;12(9):e9379. doi: 10.1002/ccr3.9379. eCollection 2024 Sep.

DOI:10.1002/ccr3.9379
PMID:39229295
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11369680/
Abstract

Tuberous sclerosis (TSC) is an autosomal dominant neurocutaneous disorder. This case highlights rare isolated neurologic finding in a TSC patient emphasizing the need for heightened suspicion even in the absence of any cutaneous findings and family history.

摘要

结节性硬化症（TSC）是一种常染色体显性遗传的神经皮肤疾病。该病例突出了一名TSC患者罕见的孤立性神经系统表现，强调即使在没有任何皮肤表现和家族史的情况下，也需要提高警惕。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8697/11369680/f847b81fac8c/CCR3-12-e9379-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8697/11369680/88604e8bd020/CCR3-12-e9379-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8697/11369680/036d719a7c93/CCR3-12-e9379-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8697/11369680/f847b81fac8c/CCR3-12-e9379-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8697/11369680/88604e8bd020/CCR3-12-e9379-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8697/11369680/036d719a7c93/CCR3-12-e9379-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8697/11369680/f847b81fac8c/CCR3-12-e9379-g001.jpg

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本文引用的文献

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Tuberous sclerosis complex: A clinical diagnosis in Ethiopian patients.结节性硬化症复合征：埃塞俄比亚患者的临床诊断。
Medicine (Baltimore). 2024 Feb 9;103(6):e37135. doi: 10.1097/MD.0000000000037135.
2
First descriptions of tuberous sclerosis by Désiré-Magloire Bourneville (1840-1909).迪西雷-马格洛ire·布尔内维尔（1840 - 1909年）对结节性硬化症的首次描述。
Neuropathology. 2018 Dec;38(6):577-582. doi: 10.1111/neup.12515. Epub 2018 Sep 14.
3
Tuberous Sclerosis Complex: A Review.结节性硬化症复合体：综述
Pediatr Ann. 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01.
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Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.结节性硬化症综合诊断标准更新：2012 年国际结节性硬化症共识会议推荐。
Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001.
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Trends in the prevalence of tuberous sclerosis complex manifestations: an epidemiological study of 166 Japanese patients.结节性硬化症表现的流行趋势：166 例日本患者的流行病学研究。
PLoS One. 2013 May 17;8(5):e63910. doi: 10.1371/journal.pone.0063910. Print 2013.
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The Tuberous Sclerosis 2000 Study: presentation, initial assessments and implications for diagnosis and management.结节性硬化症 2000 研究：表现、初步评估以及对诊断和治疗的影响。
Arch Dis Child. 2011 Nov;96(11):1020-5. doi: 10.1136/adc.2011.211995. Epub 2011 Aug 3.
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The natural history of epilepsy in tuberous sclerosis complex.结节性硬化症相关癫痫的自然病史。
Epilepsia. 2010 Jul;51(7):1236-41. doi: 10.1111/j.1528-1167.2009.02474.x. Epub 2009 Dec 22.
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Lancet. 2008 Aug 23;372(9639):657-68. doi: 10.1016/S0140-6736(08)61279-9.
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J Craniomaxillofac Surg. 2002 Dec;30(6):361-6. doi: 10.1054/jcms.2002.0322.
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