A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement
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 angiofibro...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Rare Diseases
2024-01-01
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| Series: | 罕见病研究 |
| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.01.011 |
| _version_ | 1797289811743080448 |
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| author | ZHENG Hua ZHI Yunfei YING Lujing ZHU Lan JI Mingliang LIANG Ze WANG Jiangshan SHI Haifeng ZHANG Weihong XIAO Mengsu ZHANG Yushi XU Kaifeng LU Zhaohui LIU Yaping XU Ruiyi ZHU Huijuan WEN Li ZHANG Yan CHEN Gang CHEN Limeng |
| author_facet | ZHENG Hua ZHI Yunfei YING Lujing ZHU Lan JI Mingliang LIANG Ze WANG Jiangshan SHI Haifeng ZHANG Weihong XIAO Mengsu ZHANG Yushi XU Kaifeng LU Zhaohui LIU Yaping XU Ruiyi ZHU Huijuan WEN Li ZHANG Yan CHEN Gang CHEN Limeng |
| author_sort | ZHENG Hua |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-07T19:11:25Z |
| format | Article |
| id | doaj.art-814077ec2af145b48d11a5b014acc542 |
| institution | Directory Open Access Journal |
| issn | 2097-0501 |
| language | zho |
| last_indexed | 2024-03-07T19:11:25Z |
| publishDate | 2024-01-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj.art-814077ec2af145b48d11a5b014acc5422024-03-01T03:13:14ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012024-01-0131798610.12376/j.issn.2097-0501.2024.01.011A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ InvolvementZHENG HuaZHI YunfeiYING Lujing0ZHU Lan1JI Mingliang2LIANG Ze3WANG Jiangshan4SHI Haifeng5ZHANG Weihong6XIAO Mengsu7ZHANG Yushi8XU Kaifeng9LU Zhaohui10LIU Yaping11XU Ruiyi12ZHU Huijuan13WEN Li14ZHANG Yan15CHEN Gang16CHEN Limeng17Department of Internal Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaEmergency Department, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Ultrasound, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Urology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Respiratory Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaInstitute of Clinical Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaInstitute of Clinical Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaDepartment of Nephrology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, ChinaTuberous 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.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.01.011tuberous sclerosis complexuterine abscessanemia |
| spellingShingle | ZHENG Hua ZHI Yunfei YING Lujing ZHU Lan JI Mingliang LIANG Ze WANG Jiangshan SHI Haifeng ZHANG Weihong XIAO Mengsu ZHANG Yushi XU Kaifeng LU Zhaohui LIU Yaping XU Ruiyi ZHU Huijuan WEN Li ZHANG Yan CHEN Gang CHEN Limeng A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement 罕见病研究 tuberous sclerosis complex uterine abscess anemia |
| title | A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement |
| title_full | A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement |
| title_fullStr | A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement |
| title_full_unstemmed | A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement |
| title_short | A Case Report of Multidisciplinary Diagnosis and Treatment of a Patient with Tuberous Sclerosis Complex and Multi-Organ Involvement |
| title_sort | case report of multidisciplinary diagnosis and treatment of a patient with tuberous sclerosis complex and multi organ involvement |
| topic | tuberous sclerosis complex uterine abscess anemia |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.01.011 |
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