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Italian Journal of Pediatrics
Published in: Italian Journal of Pediatrics 1/2023

Open Access 01-12-2023 | Tuberous Sclerosis | Review

Tuberous sclerosis complex: a case report and literature review

Authors: Yanlin Li, Zhihua Si, Wei Zhao, Cong Xie, Xu Zhang, Ju Liu, Jinzhi Liu, Zhangyong Xia

Published in: Italian Journal of Pediatrics | Issue 1/2023

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Abstract

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.
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Metadata
Title
Tuberous sclerosis complex: a case report and literature review
Authors
Yanlin Li
Zhihua Si
Wei Zhao
Cong Xie
Xu Zhang
Ju Liu
Jinzhi Liu
Zhangyong Xia
Publication date
01-12-2023
Publisher
BioMed Central
Published in
Italian Journal of Pediatrics / Issue 1/2023
Electronic ISSN: 1824-7288
DOI
https://doi.org/10.1186/s13052-023-01490-z

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