Uterine lymphangioleiomyomatosis in a premenopausal woman with tuberous sclerosis: A case report

Abstract

Lymphangioleiomyomatosis is a rare disease characterized by abnormal smooth muscle cell growth. It primarily occurs in the lungs but can also rarely occur in other organs, in which case it is classified as extrapulmonary lymphangioleiomyomatosis. It often accompanies tuberous sclerosis complex. This report concerns a case of uterine lymphangioleiomyomatosis with spontaneous uterine rupture in a young woman with tuberous sclerosis complex. A 27-year-old nulligravida patient presented to the emergency room with vaginal bleeding. She had a history of clinical diagnosis of tuberous sclerosis complex and pulmonary lymphangioleiomyomatosis. Initially, abdominopelvic computed tomography and magnetic resonance imaging suggested a hemorrhagic necrosis and rupture of degenerated uterine myoma. She underwent emergency exploratory laparotomy. The right side of her normal-sized uterus were ruptured without any specific mass. Active bleeding and hematoma from the ruptured uterus and partially ruptured right ovary were noted. The procedure included total hysterectomy and right salpingo-oophorectomy. Pathological analysis confirmed lymphangioleiomyomatosis in the uterine serosa and myometrium. Lymphangioleiomyomatosis mainly occurs in women of reproductive age and worsens with estrogen. Early diagnosis and careful follow-up are necessary due to the risk of worsening gynecological symptoms or even uterine rupture during pregnancy. This case enhances our understanding of extrapulmonary lymphangioleiomyomatosis and highlights the importance of comprehensive evaluation in complex clinical scenarios.

Keywords

• Lymphangioleiomyomatosis
• Tuberous sclerosis
• Uterus
• Perivascular epithelioid cell neoplasms