A Case of Tuberous Sclerosis Complex with Multiple Organ Involvement Caused by <i>TSC2</i> Gene Mutation

Hongli ZHANG; Jiayuan DAI; Yan WANG; Weihong ZHANG; Wenbin MA; Hanhui FU; Chunxia HE; Jun ZHENG; Wenda WANG; Wei ZUO; Yaping LIU; Min SHEN

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

VernacularTitle:TSC2基因突变致多器官受累的结节性硬化症一例
Author: 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
Author Information

1. Department of Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Department of Medical Genetics, the First Affiliated Hospital of Nanchang University, Nanchang 330006, China;.
2. Department of Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
3. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
4. Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
5. Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
6. Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
7. Department of Cardiac Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
8. Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
9. Department of Pharmacy, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
10. Department of Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Clinical Genetics Group, Medical Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
Publication Type:Journal Article
Keywords: tuberous sclerosis complex; TSC2; multiple organ involvement; genetic testing; multidisciplinary treatment
From: JOURNAL OF RARE DISEASES 2026;5(1):60-67
CountryChina
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.