Pelvic inflammatory myofibroblastic tumor in a patient with Wilson's disease and KBG syndrome: A case report

Abdominal ultrasound (US) is frequently used in patients with Wilson disease (WD) to identify possible renal and hepatic involvement. KBG syndrome (KBGs) is a rare condition characterized by skeletal abnormalities and intellectual disability, which usually has no abdominal manifestations. A 12-year-old girl, affected by WD and KBGs, was referred to us due to a 51 × 34 mm cystic mass on the left ovary seen by abdominal US, initially interpreted as a left ovarian cyst. She underwent monthly follow-up US that showed a progressive increase in the size of the cyst. By the fourth month, the features had changed to a complex formation of the left ovary. Tumor markers, including CA125, AFP and BHCG, among others) were within normal limits. The patient was taken electively to the operating room for a laparoscopic resection of the suspected complex ovarian lesion. Intraoperatively we found a solid mass that connected on one side to the left parametrium and on the other side to a jejunal loop through what appeared to be a pseudo mesentery. The left ovary only had a simple cyst of approximately 3 cm in diameter. The right ovary and both Fallopian tubes were normal. We detached the mass from both connections using surgical staplers. She recovered well from the operation and was discharged home on the seventh postoperative day. The pathology analysis was consistent with an inflammatory myofibroblastic pseudotumor, and the margins were free of disease. At one year of follow-up with US and magnetic resonance imaging she has had no signs of recurrence. The preoperative evaluation of adnexal and pelvic masses in syndromic females should include cross-sectional imaging, as ultrasound may not provide sufficient anatomical detail.