Tuberous sclerosis complex: a case report and literature review

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with different initial symptoms and complex clinical manifestations. A 14-year-old female patient presented with persistent fever and severe headache. Medical imaging examinations revealed multiple abnormal intracranial lesions. The...

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Autores principales: Li, Yanlin, Si, Zhihua, Zhao, Wei, Xie, Cong, Zhang, Xu, Liu, Ju, Liu, Jinzhi, Xia, Zhangyong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485941/
https://www.ncbi.nlm.nih.gov/pubmed/37679848
http://dx.doi.org/10.1186/s13052-023-01490-z
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author Li, Yanlin
Si, Zhihua
Zhao, Wei
Xie, Cong
Zhang, Xu
Liu, Ju
Liu, Jinzhi
Xia, Zhangyong
author_facet Li, Yanlin
Si, Zhihua
Zhao, Wei
Xie, Cong
Zhang, Xu
Liu, Ju
Liu, Jinzhi
Xia, Zhangyong
author_sort Li, Yanlin
collection PubMed
description Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with different initial symptoms and complex clinical manifestations. A 14-year-old female patient presented with persistent fever and severe headache. Medical imaging examinations revealed multiple abnormal intracranial lesions. The patient had previously been misdiagnosed with “encephalitis and acute disseminated encephalomyelitis” after visiting numerous hospitals. Eventually, by combing the characteristics of the case and genetic testing results, the patient was diagnosed with TSC accompanied by Mycoplasma pneumoniae infection. The purpose of this case report and literature review is to improve understanding of the clinical diagnosis and treatment of TSC so as to avoid misdiagnosis, missed diagnosis, and overtreatment. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13052-023-01490-z.
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spelling pubmed-104859412023-09-09 Tuberous sclerosis complex: a case report and literature review Li, Yanlin Si, Zhihua Zhao, Wei Xie, Cong Zhang, Xu Liu, Ju Liu, Jinzhi Xia, Zhangyong Ital J Pediatr Review Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with different initial symptoms and complex clinical manifestations. A 14-year-old female patient presented with persistent fever and severe headache. Medical imaging examinations revealed multiple abnormal intracranial lesions. The patient had previously been misdiagnosed with “encephalitis and acute disseminated encephalomyelitis” after visiting numerous hospitals. Eventually, by combing the characteristics of the case and genetic testing results, the patient was diagnosed with TSC accompanied by Mycoplasma pneumoniae infection. The purpose of this case report and literature review is to improve understanding of the clinical diagnosis and treatment of TSC so as to avoid misdiagnosis, missed diagnosis, and overtreatment. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13052-023-01490-z. BioMed Central 2023-09-08 /pmc/articles/PMC10485941/ /pubmed/37679848 http://dx.doi.org/10.1186/s13052-023-01490-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Review
Li, Yanlin
Si, Zhihua
Zhao, Wei
Xie, Cong
Zhang, Xu
Liu, Ju
Liu, Jinzhi
Xia, Zhangyong
Tuberous sclerosis complex: a case report and literature review
title Tuberous sclerosis complex: a case report and literature review
title_full Tuberous sclerosis complex: a case report and literature review
title_fullStr Tuberous sclerosis complex: a case report and literature review
title_full_unstemmed Tuberous sclerosis complex: a case report and literature review
title_short Tuberous sclerosis complex: a case report and literature review
title_sort tuberous sclerosis complex: a case report and literature review
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10485941/
https://www.ncbi.nlm.nih.gov/pubmed/37679848
http://dx.doi.org/10.1186/s13052-023-01490-z
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