Tuberous sclerosis complex: a case report and literature review

被引：2

作者：

Li, Yanlin ^{[1
,2
]}

Si, Zhihua ^{[1
,2
]}

Zhao, Wei ^{[3
]}

Xie, Cong ^{[3
]}

Zhang, Xu ^{[3
]}

Liu, Ju ^{[4
]}

Liu, Jinzhi ^{[3
,5
,6
,7
,8
,9
]}

Xia, Zhangyong ^{[5
,6
,9
]}

机构：

[1] Shandong First Med Univ, Affiliated Hosp 1, Shandong Inst Neuroimmunol, Dept Neurol,Shandong Key Lab Rheumat Dis & Transla, 16766 Jingshi Rd, Jinan 250014, Peoples R China

[2] Shandong Prov Qianfoshan Hosp, 16766 Jingshi Rd, Jinan 250014, Peoples R China

[3] Shandong First Med Univ, Hosp Affiliated 1, Shandong Prov Qianfoshan Hosp, Dept Radiol, 16766 Jingshi Rd, Jinan 250014, Peoples R China

[4] Shandong Univ, Shandong Prov Qianfoshan Hosp, Med Res Ctr, Lab Microvasc Med, 16766 Jingshi Rd, Jinan 250014, Shandong, Peoples R China

[5] Shandong First Med Univ, Liaocheng Peoples Hosp, Dept Neurol, 67 Dongchang West Rd, Liaocheng 252000, Peoples R China

[6] Shandong First Med Univ, Liaocheng Clin Sch, 67 Dongchang West Rd, Liaocheng 252000, Peoples R China

[7] Shandong Univ, Shandong Prov Qianfoshan Hosp, Cheeloo Coll Med, Dept Gerontol, 44 Wenhua West Rd, Jinan 250012, Peoples R China

[8] Shandong First Med Univ, Shandong Prov Qianfoshan Hosp, Affiliated Hosp 1, Dept Geriatr Neurol, 16766 Jingshi Rd, Jinan 250014, Peoples R China

[9] Shandong Univ, Liaocheng Peoples Hosp, Cheeloo Coll Med, Dept Neurol, 44 Wenhua West Rd, Jinan 250012, Peoples R China

来源：

ITALIAN JOURNAL OF PEDIATRICS | 2023年 / 49卷 / 01期

关键词：

Tuberous sclerosis complex; Clinical manifestations; Neuroimaging manifestations; Misdiagnosis and overtreatment; Case report; PHENOTYPE;

D O I：

10.1186/s13052-023-01490-z

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页数：9

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