Tuberous sclerosis complex and gynaecological complications: navigating diagnostic and surgical challenges

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterised by benign tumours in multiple organs, with potential complications in the reproductive system. The author reports a case of a nulliparous woman in her mid-30s with a history of TSC and prior radical nephrectomy for renal angiomyolipoma. She presented with a history of heavy menstrual bleeding, dysmenorrhoea and lower abdominal pain. Imaging studies were suggestive of a large ruptured haemorrhagic ovarian cyst with the presence of blood in the uterine cavity. Laparoscopy-guided biopsy was performed by a gastrointestinal surgeon due to extensive adhesions. Intraoperative findings included a friable mass adherent to the pouch of Douglas and dense ovarian adhesions. Postoperative recovery was uneventful, and the patient was put on hormonal therapy. This case highlights the complex interplay of TSC-related pathology with gynaecological emergencies, emphasising the role of multidisciplinary management.

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Publication Details

Journal
BMJ Case Reports
Published
2025-05-01
DOI
https://doi.org/10.1136/bcr-2025-265601
Primary Topic
Tuberous Sclerosis Complex Research
Type
article
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article

Tuberous sclerosis complex and gynaecological complications: navigating diagnostic and surgical challenges

Vaishnavi Rajaraman, Sobha S. Nair, Bribin Bright
1 links
BMJ Case Reports
Tuberous Sclerosis Complex Research
article

Tuberous sclerosis complex and gynaecological complications: navigating diagnostic and surgical challenges

Vaishnavi Rajaraman, Sobha S. Nair, Bribin Bright
article en

Abstract

Tuberous sclerosis complex (TSC) is a rare genetic disorder characterised by benign tumours in multiple organs, with potential complications in the reproductive system. The author reports a case of a nulliparous woman in her mid-30s with a history of TSC and prior radical nephrectomy for renal angiomyolipoma. She presented with a history of heavy menstrual bleeding, dysmenorrhoea and lower abdominal pain. Imaging studies were suggestive of a large ruptured haemorrhagic ovarian cyst with the presence of blood in the uterine cavity. Laparoscopy-guided biopsy was performed by a gastrointestinal surgeon due to extensive adhesions. Intraoperative findings included a friable mass adherent to the pouch of Douglas and dense ovarian adhesions. Postoperative recovery was uneventful, and the patient was put on hormonal therapy. This case highlights the complex interplay of TSC-related pathology with gynaecological emergencies, emphasising the role of multidisciplinary management.

BMJ Case ReportsVol. 18(5)
Amrita Institute of Medical Sciences and Research Centre (IN), Government Medical College (IN)
Good health and well-being
Openalex Percentile: Top 88%
Tuberous Sclerosis Complex Research
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