Herlyn-Werner-Wunderlich syndrome

Clinical History

A 14-year-old girl presented to the emergency department with a history of increasing pelvic pain, without fever, diarrhoea or urinary symptoms. She had menarche at the age of 12 and her menstrual cycles were regular. Physical examination and routine laboratory tests were in the normal range.

Imaging Findings

A pelvic ultrasound revealed a 60x85mm retrovesical cystic lesion with fine internal echoes (Fig. 1) and absence of the right kidney (Fig. 2). MRI revealed two uterine horns and clearly demonstrated 2 cervixes and 2 vaginal cavities. There was a voluminous collection in the right horn that communicated caudally with another large ovoid collection distending the right hemivagina; signal intensity of both collections (bright signal intensity in T1W image, intermediate signal intensity on T2: Fig. 3) was consistent with blood products, suggestive of a right haematometrocolpos (Fig. 4). A large tubular cystic mass with similar signal, adjacent to the right uterus was identified which corresponded to a haematosalpinx (Fig. 4). Both ovaries were normal. A diagnosis of uterus didelphys with associated obstructed hemivagina and ipsilateral renal agenesis (Herlyn-Werner-Wunderlich Syndrome) was made.

Discussion

Müllerian duct abnormalities (MDA) cover a wide range of developmental anomalies, resulting from non-development, defective fusion, or defects in regression of the septum during fetal development. HWW Syndrome refers to a congenital anomaly of the Müllerian ducts associated with a developmental defect of the mesonephric ducts in which there is the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis and that accounts for approximately 5% of MDAs [1-2]. The vaginal introitus is not affected; a haematocolpos appears, due to the presence of vertical vaginal fibrous septa derived from failure resorption during Müllerian ducts embryological development at the eighth week of gestation.

The most common clinical presentation is an abdominal mass secondary to haematocolpos from retained menstrual flow, pain and dysmenorrhoea [3]. Rarely, the clotted blood may become infected, termed pyocolpos [4]. Patients start to experience abdominal and, less commonly, perineal discomfort, secondary to the enlarging haematocolpos, which may also lead to urinary retention and constipation in some cases. Early recognition is important in order to avoid long term complications such as retrograde tubal reflux and consequent endometriosis, as well as to preserve fertility.

When suspecting a genitourinary anomaly, an initial screening ultrasound should be followed by MRI rather than CT, since the latter involves radiation exposure and many questions remain unanswered because of its limited soft-tissue resolution. Considering the vast differentials in uterovaginal anomalies, precise anatomical delineation of the uterus, tubes, cervix and vagina is essential.
Irrespective of imaging modality, the key findings are: duplication of the uterus and vagina, unilateral haematocolpos or haematometrocolpos and renal agenesis. The right side is affected nearly twice as frequently as the left one [2-5].

Treatment invariably requires surgical intervention. Laparoscopic vaginal septum excision remains the treatment of choice [6].

Teaching points:
•The Herlyn–Werner–Wunderlich (HWW) syndrome is a rare variant of mullerian duct anomalies characterised by the combination of uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis.
•When congenital abnormalities of the reproductive tract are encountered in female infants, a screening should be made for renal anomalies and vice versa.
•MRI is the preferred modality for the delineation of uterine malformation.

Differential Diagnosis List

Final Diagnosis

Uterus didelphys with obstructed hemivagina and renal agenesis: Herlyn-Werner-Wunderlich Syndrome.

URL:	https://www.eurorad.org/case/13209
DOI:	10.1594/EURORAD/CASE.13209
ISSN:	1563-4086