延胡索酸水合酶缺陷型子宫平滑肌瘤1例

A Case of Fumarate Hydratase Deficiency Uterine Leiomyoma

摘要: 患者女性，44岁，已婚已育，因“子宫肌瘤2次剔除术后8年，经量增多1年”于2022年10月29日入院，查体示：外阴发育正常，阴道通畅，宫颈暴露困难，光滑，宫体前位，如孕5个月大小，形态不规则，质中，活动可，无压痛。双侧附件区未扪及明显异常。辅助检查：① 妇科超声：子宫前位，约15.8 cm × 11.0 cm × 10.2 cm，包膜欠光滑，外形欠规则，肌层回声不均匀，肌层内见多发低回声结节及团块，较大者右后壁下段8.8 cm × 5.8 cm (外凸)，均边界清；② 血红蛋白：94 g/L。术后病理提示：家族遗传性平滑肌瘤。

Abstract: A 44-year-old married woman was admitted to the hospital on October 29th, 2022 because of “8 years after the second myomectomy, the menstrual flow increased by one year”. Physical examina-tion showed that the vulva developed normally, the vagina was unobstructed, the cervical exposure was difficult, smooth, and the uterus was in the front position, such as the size of 5 months pregnant, irregular in shape, medium in quality, movable and without tenderness. No obvious abnormality was found in bilateral adnexal areas. Auxiliary examination: ① Gynecological ultrasound: the uterus is in the anterior position, about 15.8 cm × 11.0 cm × 10.2 cm, the capsule is not smooth, the shape is irregular, the echo of the muscular layer is uneven, and multiple hypoechoic nodules and masses are seen in the muscular layer, and the lower part of the right posterior wall is 8.8 cm × 5.8 cm (protruding), with clear boundaries; ② Hemoglobin: 94 g/L. Postoperative pathological find-ings: familial leiomyoma.