Tuberous sclerosis complex: a case report and literature review

Author:

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

Abstract

AbstractTuberous 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.

Funder

Shandong Provincial Traditional Chinese Medicine Science and Technology Development Plan Project

Key research and development program of Shandong Province

National Natural Science Foundation of China Incubation Fund

Shandong Provincial Medical and Health Science and Technology Development Program

Publisher

Springer Science and Business Media LLC

Subject

General Mathematics

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