부산대학교 도서관

Background: The incidence of MRKH is 1 in every 4,500 female live births, while Heterotaxysyndrome occurs in 4 in every 1M live births. There was one reported case of MRKH with Hypothyroidism and one case with Hypoplastic R lung. The incidence of MRKH plus Heterotaxy syndrome with polysplenia is still unknown. MKRH with ovarian tumors revealed 5 reported cases but none of these was consistent with ovarian serous cystadenocarcinoma. There is no documented association of Heterotaxy syndrome with polysplenia and ovarian serous cystadenocarcinoma. Clinical Presentation: A 29-year old female was admitted for an appendectomy with incidental note of an unresectable retroperitoneal mass. Biopsy showed suppurative appendix and an abscess with granuloma formation. She underwent pelvic laparotomy with bilateral salpingooophorectomy at age 16 for primary amenorrhea and an absent vaginal orifi ce. Diagnostic Work Up: CBC showed anemia and persistent leukocytosis with absolute neutrophilia. There were low Na+ and K+ levels and remittent azotemia with hypoalbuminemia. TSH was high but T3 was low. Karyotyping bared normal 46,XX karyotype. Chest X-ray revealed narrowed right intercostal spaces; hyperlucent left lung with widened intercostal spaces; shifting of the trachea and mediastinum to the right; and elevated right hemidiaphragm. Chest and abdominal CT scan demonstrated structural alterations consistent with Heterotaxy syndrome; a lobulated, solid mass with areas of hypodensities and punctuate calcifi cations within the pelvic cavity. 2D-Echocardiography showed a dextro-positioned heart.Hormone panel was consistent with menopausal levels. Immunohistochemistry studies showed infi ammatory myofi broblastic tumor. Autopsy revealed ovarian serous cystadenocarcinoma. Treatment Outcome: Anemia was corrected, and intravenous antibiotics were started. Patient was discharged improved, however, eventually succumbed after 5 months.