Department of Neurology, Shandong Institute of Neuroimmunology, Shandong Key Laboratory of Rheumatic Disease and Translational Medicine, The First Affiliated Hospital of Shandong First Medical University & Shandong Provincial Qianfoshan Hospital, 16766 Jingshi Road, Jinan, 250014, China.
Department of Gerontology, Shandong Provincial Qianfoshan Hospital, The First Affiliated Hospital of Shandong First Medical University, 16766 Jingshi Road, Jinan, 250014, China.
Ital J Pediatr. 2023 Sep 8;49(1):116. doi: 10.1186/s13052-023-01490-z.
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.
结节性硬化症（TSC）是一种常染色体显性遗传疾病，具有不同的初始症状和复杂的临床表现。一位 14 岁的女性患者以持续发热和严重头痛为主诉就诊。医学影像学检查显示颅内多发异常病灶。该患者曾因在多家医院就诊被误诊为“脑炎和急性播散性脑脊髓炎”。最终，通过综合病例特点和基因检测结果，诊断为伴有肺炎支原体感染的 TSC。本文通过病例报告并结合文献复习，旨在提高对 TSC 临床诊断和治疗的认识，以避免误诊、漏诊和过度治疗。
