JOURNAL OF RARE DISEASES 2026;5(1):60-67

doi:10.12376/j.issn.2097-0501.2026.01.009

A Case of Tuberous Sclerosis Complex with Multiple Organ Involvement Caused by TSC2 Gene Mutation

Hongli ZHANG 1 ; Jiayuan DAI 2 ; Yan WANG 3 ; Weihong ZHANG 4 ; Wenbin MA 5 ; Hanhui FU 6 ; Chunxia HE 3 ; Jun ZHENG 7 ; Wenda WANG 8 ; Wei ZUO 9 ; Yaping LIU 10 ; Min SHEN 2

Affiliations

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Keywords

tuberous sclerosis complex; TSC2; multiple organ involvement; genetic testing; multidisciplinary treatment

Country

China

Language

Chinese

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder primarily caused by pathogenic variants in the TSC1 or TSC2 genes. It is characterized by multisystem hamartomatous lesions and neuropsychiatric manifestations. Here we report a young male patient with TSC involving multiple organs, caused by a heterozygous frameshift mutation in TSC2 (c.2071delC, p.Arg691Alafs*7). The patient initially presented with classic facial angiofibromas and hypomelanotic macules, and subsequently developed psychiatric and behavioral disturbances with auditory hallucinations. Neuroimaging revealed an intracranial mass lesion, which was confirmed as a subependymal giant cell astrocytoma on postoperative histopathology following surgery performed at an outside institution. After admission, the patient underwent a comprehensive diagnostic workup, and multidisciplinary treatment evaluation revealed extensive multisystem involve-ment, including the nervous system, skin, kidneys, lungs, heart, eyes, pancreas, liver and bones. Combined with relevant literature, this article discusses the molecular mechanisms, clinical phenotypes, and comprehensive management of TSC, in order to provide a reference for the standardized and individualized management of this disease.