A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement

Hua Zheng; Yunfei Zhi; Lujing Ying; Lan Zhu; Mingliang JI; Ze Liang; Jiangshan Wang; Haifeng Shi; Weihong Zhang; Mengsu Xiao; Yushi Zhang; Kaifeng XU; Zhaohui LU; Yaping Liu; Ruiyi XU; Huijuan Zhu; Li Wen; Yan Zhang; Gang Chen; Limeng Chen

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A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement

VernacularTitle:一例结节性硬化症多器官受累患者的多学科诊疗
Author: Hua ZHENG ¹ ; Yunfei ZHI ² ; Lujing YING ² ; Lan ZHU ³ ; Mingliang JI ³ ; Ze LIANG ³ ; Jiangshan WANG ⁴ ; Haifeng SHI ⁵ ; Weihong ZHANG ⁵ ; Mengsu XIAO ⁶ ; Yushi ZHANG ⁷ ; Kaifeng XU ⁸ ; Zhaohui LU ⁹ ; Yaping LIU ¹⁰ ; Ruiyi XU ¹¹ ; Huijuan ZHU ¹² ; Li WEN ¹⁰ ; Yan ZHANG ¹³ ; Gang CHEN ¹ ; Limeng CHEN ¹
Author Information

1. Department of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
2. Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
3. Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
4. Emergency Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
5. Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
6. Department of Ultrasound, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
7. Department of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
8. Department of Respiratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
9. Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
10. Institute of Clinical Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
11. Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
12. Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.
13. Department of Hematology, 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; uterine abscess; anemia
From: JOURNAL OF RARE DISEASES 2024;3(1):79-86
CountryChina
Language:Chinese
Abstract:
Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.