Uterus-Like Mass in Association with Neural Tube Defect: A Case Report and Review of the Literature

Abstract

Uterus-like mass is an extremely rare choristoma of müllerian origin arising in association with neural tube defects. In this article, we describe the case of a 9-year-old girl with spina bifida, a mass lesion within the conus, and a subcutaneous lipoma in the lumbosacral region. Histopathological examination of the conus lesion revealed a uterus-like structure comprising of endometrial glands and stroma surrounded by fascicles of smooth muscle. This case differs from the few previously described cases in absence of neurological symptoms and early age at diagnosis. Thorough histopathological examination of resected tissue is therefore recommended for the diagnosis of this rare entity, as it may not have a typical presentation in all instances.

Clinicopathological Characteristics of Primary Ovarian Adenomyoma: A Single-institutional Experience

“…Similar to ovarian adenomyoma, abdominal/pelvic pain and discomfort and irregular menstruation were common clinical presentations of extrauterine, nonovarian adenomyoma. Some patients presented with site-specific symptoms: constipation in patients with intestinal lesions (31,35), back pain and paresthesia in those with spinal lesions (28)(29)(30), and palpable masses in those with a testicular lesion (52), a nodal lesion (49), or inguinal lesions (46,50). Endometriosis was the most commonly associated condition.…”

“…Anomalous gastrointestinal or urinary tract lesions were found in a few cases (31). All patients with conus medullaris lesions exhibited spinal dysraphism (28)(29)(30). Local excision was curative in most cases, but segmental resection of the intestine was performed in cases involving the intestinal wall or mesentery.…”

Extrauterine adenomyoma: A case report and systematic review of the literature

“…The mass was homogeneously enhanced on contrast-enhanced T1WI Bulut 2013 79 Giant hypervascular lobulated mass measuring 8 × 12 × 13 cm, with central necrosis, filling the pelvis, indenting the uterus, rectosigmoid and bladder, closely related to the uterine corpus. Reported to be a large necrotic leiomyoma without exclusion of malignancy Kakkar 2013 44 Sagittal T1WI and T2WI show a low-lying spinal cord tethered to an intradural lipoma at the L4 level with cystic loculation. Intradural lipoma is continuous with subcutaneous fat through spina bifida at the L5-S1 level.…”

“…[20][21][22] Extrauterine adenomyoma is a rare condition that is usually located at the level of the pararectal space, the ovary, the peritoneum or the broad ligament. 14,[23][24][25] Other reported sites of disease include the uterosacral ligament, 20,26 omentum, 18,27,28 liver, [28][29][30][31] bowel, 19,22,27,[32][33][34][35][36][37] mesentery, [38][39][40] abdominal and pelvic wall, 27,41,42 nerve structures, 43,44 inguinal region, [45][46][47] tubes, [48][49][50] and diaphragm and lung. 28 The most common reported symptoms include abdominopelvic pain, abdominal discomfort, dyspareunia, bowel obstructive symptoms, and pelvic heaviness.…”

Clear cell carcinoma arising from a uterus‐like mass

“…A uterus‐like mass is considered a rare form of endometriosis, characterized by central endometriosis with cavity formation and smooth muscle proliferation surrounding the cavity . A total of 26 cases in English and 4 cases in Japanese scientific literature, including those arising in the ovaries, broad ligaments, or other organs, such as the small bowel or colon, have been reported previously, and only one study described the occurrence of a malignant tumor . Recently, we identified a case of clear cell carcinoma in a uterus‐like mass of the retroperitoneal space.…”