Tuberous sclerosis complex: a case report and literature review

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.

Etiological analysis of 167 cases of drug-resistant epilepsy in children

“…These gene variants are situated within the mTOR pathway and are known to trigger excessive activation of the mTOR pathway. This, in turn, disrupts normal cell proliferation and ultimately contributes to the development of malformed cerebral cortex, a condition closely associated with the onset of DRE [ 32 ]. Furthermore, three cases exhibited epileptic seizures attributable to mitochondrial gene variants (POLG, MT-TL1, DNM1L), as documented in previous studies [ 33 – 35 ].…”