Herlyn-Werner-Wunderlich syndrome in an adolescent with epilepsy: Diagnostic and surgical challenges-first case report from Palestine.

A 14-year-6-month-old girl, a school student, was referred to our hospital with a 6-month history of progressively worsening cyclical lower abdominal pain that coincided with her menses. She described the pain as colicky and cramping, lasting 3-5 days with each period and occasionally radiating to the lower back and inner thighs. The pain was associated with mild nausea, pelvic heaviness, and occasional dizziness, but there was no vomiting, urinary symptoms, bowel disturbance, or fever. At its worst, she rated the pain 7/10. Before the presentation of 6 days, she attended a different hospital for an acute exacerbation and received only symptomatic treatment; persistent and recurrent symptoms prompted representation to our service. Her menarche occurred at age 12 years, and her cycles had been regular, but over the past 6 months dysmenorrhea had become progressively more severe. Her past medical history was notable for epilepsy diagnosed in childhood (she reported a seizure 3 days prior to admission) and a previous bilateral herniorrhaphy when she was 7-year-old. She was reportedly non-adherent with anti-epileptic medication. There was no relevant family history of Müllerian or renal anomalies. No history of tobacco smoking or illicit drug intake. On examination, she was alert and oriented but uncomfortable. Vital signs were within normal limits. Abdominal palpation elicited focal tenderness on the right lower quadrant with mild guarding but no peritonism, distention, or palpable masses. External genital inspection was unremarkable, and a formal pelvic examination was deferred because of her age and institutional policy. Initial laboratory tests, including a complete blood count and renal function tests, were within normal ranges. A pelvic US was performed and raised concern for a Müllerian anomaly. The uterus appeared bicornuate with the right horn containing echogenic material, and a large posterior pelvic cystic structure (approximately 8 × 6 cm) with internal dense content was seen behind the bladder. Additionally, the right ovary contained a separate small cyst (3.5 cm). Given the discordant and complex sonographic findings, a contrast-enhanced CT of the abdomen and pelvis was performed and established the diagnosis of HWWS—uterine didelphys with an obstructed right hemivagina and ipsilateral (right) renal agenesis, as seen in Figure 1 . Since it’s a better study for evaluation of soft tissues, MRI was also performed, as seen in Figure 2 , and showed similar findings. Fig. 1 Contrast-enhanced computed tomography (CT) of the abdomen and pelvis (coronal and axial views). Contrast-enhanced CT images of the abdomen and pelvis demonstrate the absence of the right kidney (green arrow), consistent with right renal agenesis. The uterine duplication is partially visualized (red arrows), suggesting uterine didelphys. The left kidney appears normal in size and enhancement (blue arrow). Fig 1 dummy alt text Fig. 2 Pelvic magnetic resonance imaging (MRI) (STIR coronal and T1 + c axial images). MRI of the pelvis demonstrates uterine didelphys with two distinct uterine horns and cervices (yellow arrows). A right-sided obstructed hemivagina is seen as a high-signal-intensity, fluid-distended structure (red arrows) on T1-weighted images, consistent with hematocolpos/hematometra secondary to vaginal obstruction. The left hemivagina appears normal and communicates with the external vaginal canal. Fig 2 dummy alt text Contrast-enhanced computed tomography (CT) of the abdomen and pelvis (coronal and axial views). Contrast-enhanced CT images of the abdomen and pelvis demonstrate the absence of the right kidney (green arrow), consistent with right renal agenesis. The uterine duplication is partially visualized (red arrows), suggesting uterine didelphys. The left kidney appears normal in size and enhancement (blue arrow). Pelvic magnetic resonance imaging (MRI) (STIR coronal and T1 + c axial images). MRI of the pelvis demonstrates uterine didelphys with two distinct uterine horns and cervices (yellow arrows). A right-sided obstructed hemivagina is seen as a high-signal-intensity, fluid-distended structure (red arrows) on T1-weighted images, consistent with hematocolpos/hematometra secondary to vaginal obstruction. The left hemivagina appears normal and communicates with the external vaginal canal. Transvaginal US was used as the initial imaging modality because of its accessibility and role as a first-line test in adolescents with pelvic pain. A contrast-enhanced CT scan was obtained emergently to better characterize the large posterior pelvic collection and to exclude acute complications (eg, an abscess or complex adnexal mass) because CT was immediately available at presentation. MRI, the gold standard for detailed assessment of Müllerian anomalies, was performed subsequently once the patient was stabilized to provide definitive characterization of uterine anatomy and to guide surgical planning. Under general anesthesia, the patient was placed in the lithotomy position. The perineum and genital area were prepared and draped in the usual sterile fashion. A speculum was gently inserted, and the left cervix was identified and displaced by the obstructed right hemivagina. The right vaginal septum was incised, and clotted blood was evacuated from the cavity; the cavity was irrigated thoroughly. The septum was excised until both cervical ostia were palpable. Hymenal repair was performed, and hemostasis was secured. The patient tolerated the procedure well and was transferred to the recovery area in stable condition.

This case report was prepared in accordance with local institutional policy. Written informed consent for publication of the clinical details and images was obtained from the patient's parents. All identifying details have been removed.

A written informed consent was obtained from the patient for publication of this case report and its accompanying images. A copy of the consent form is available for review by the Editor-in-Chief upon request. It has not been submitted elsewhere, and all authors have approved the submission.

HWWS, though rare, should be suspected in young females presenting with cyclical pelvic pain and renal anomalies. Early diagnosis through imaging and surgical correction via septal excision and vaginoplasty ensure favorable reproductive and functional outcomes.

We report a rare case of HWWS (uterus didelphys with obstructed right hemivagina and ipsilateral renal agenesis) in a 14-year-old female presenting with cyclical pelvic pain. Early diagnosis of Müllerian malformations in adolescent females with recurrent dysmenorrhea is crucial, particularly when other comorbid conditions are present. Müllerian anomalies such as a bicornuate uterus with obstructed hemivagina can present diagnostic uncertainty because sonographic appearances may be complex and overlapping. While ultrasonography is a useful first-line tool, MRI provides superior soft-tissue contrast and multiplanar detail and is the preferred modality for defining Müllerian anatomy prior to definitive surgery. In our case, CT was performed urgently to evaluate the large posterior collection and exclude urgent intra-abdominal pathology or bleeding; MRI was then used for surgical planning. Although this patient had a history of epilepsy, she experienced no perioperative seizures, and there was no evidence that epilepsy altered imaging interpretation or the surgical approach. Standard perioperative measures for patients with seizure disorder (continuation of anti-epileptic medication when possible and readiness for seizure management) were followed. Uterine didelphys, blocked hemivagina, and urological abnormalities are the hallmarks of the HWWS, commonly referred to as oblique vaginal septum syndrome, ipsilateral renal agenesis syndrome, and obstructed hemivagina. Herlyn and Werner provided a thorough description of the ipsilateral renal abnormality and blocked hemivagina syndrome in 1971, after it was initially documented in 1922 [ 6 ]. The Müllerian ducts develop craniocaudally and fuse between the 6th and 22nd weeks of gestation. HWWS is a rare clinical presentation of Müllerian abnormalities. HWWS is estimated to occur in 0.1%-3.8% of patients with Müllerian anomalies and is typically diagnosed soon after menarche when obstructive symptoms begin. Early recognition is critical, as delayed diagnosis can lead to complications such as endometriosis, pelvic adhesions, infertility, and recurrent infections [ 7 ]. It is still unclear what causes HWWS with urological abnormalities and how it develops. The exact etiology of HWWS is unclear, but it is believed to be the result of developmental disturbance during embryogenesis. That is, disruption in development, canalization, or fusion of the Müllerian ducts and urogenital sinus results in malformations of the genital tracts. In normal circumstances, Müllerian duct fusion is completed by 12 weeks of gestation, with canalization taking place at around 20 weeks. Failure of vertical or lateral fusion, or canalization defect, can result in duplicated uterine, cervical, and vaginal structures characteristic of HWWS [ 8 ]. Tong et al. noted that most patients with HWWS present after menarche with cyclic pelvic pain due to obstructed hemivagina and hematocolpos, with septal excision being the treatment of choice [ 8 ]. In our patient, abdominal and pelvic contrast-enhanced CT ( Fig. 1 ) revealed the absence of the right kidney, confirming right renal agenesis, and pelvic MRI ( Fig. 2 ) revealed uterus didelphys with two distinct uterine horns and cervices and an obstructed and dilated right hemivagina containing high-signal-intensity fluid consistent with hematocolpos or hematometra. These findings are the classic triad of HWWS and are consistent with the theory of abnormal embryologic development of the mesonephric and Müllerian ducts. HWWS is subdivided into three forms depending on the degree of obstruction and communication between duplicated structures: Type I (completely obstructed hemivagina), Type II (partially obstructed hemivagina with communication), and Type III (nonobstructed hemivagina). The case presented herein is Type I HWWS, as proven by MRI findings of completely obstructed right hemivagina. Anatomic detail on MRI ( Fig. 2 ) was crucial for surgical planning, confirming that the obstruction was confined to the right hemivagina and the contralateral uterus and vagina were normal. Müllerian anomalies are optimally evaluated by MRI, which provides precise characterization of uterine anatomy, septal anatomy, and hematocolpos. In addition, CT is highly useful for the detection of associated renal agenesis. The combination of these modalities gives an overall assessment and aids in the exclusion of differential diagnoses such as transverse vaginal septum, imperforate hymen, and unicornuate uterus with a noncommunicating horn. The main approach to managing HWWS includes surgical intervention to relieve the obstruction, maintain fertility, and prevent recurrence. The most appropriate procedure is the resection of the obstructing vaginal septum along with the drainage of the hematocolpos, which also serves to relieve the patient’s presenting symptoms [ 3 ]. In the absence of immediate surgical intervention, the temporary use of oral contraceptives or GnRH analogs, which serve as menstrual suppressants, is effective in managing the obstructed cavity with the allowance of bleeding [ 9 ]. In the described situation, the patient received the definitive management of HWWS through a single-stage vaginoplasty, which includes septal excision, evacuation of clotted blood, and the establishment of passage between the two cervices [ 9 , 10 ]. The patient’s satisfactory recuperation is a testament to the value of early and effective recognition, as well as the minimally invasive approach, in restoring the patient’s reproductive anatomy and function to normal parameters. This case highlights the importance of considering HWWS in adolescents with cyclical pelvic pain and associated renal anomalies; a pragmatic imaging approach in which US followed by CT (for acute assessment) and MRI (for definitive anatomic definition) is sometimes necessary when MRI is not immediately available; and that timely transvaginal septum excision with evacuation of hematocolpos can rapidly relieve symptoms and preserve reproductive potential. We also emphasize the need for multidisciplinary perioperative planning in patients with comorbidities such as epilepsy, even when those comorbidities do not ultimately change intraoperative management.

Herlyn–Werner–Wunderlich syndrome (HWWS), or obstructed hemivagina and ipsilateral renal anomaly syndrome, is a rare congenital Müllerian duct anomaly characterized by the triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis [ 1 , 2 ]. The syndrome arises from abnormal embryologic development of the mesonephric and paramesonephric ducts, and faulty fusion or canalization leads to associated reproductive and urinary tract anomalies [ 3 ]. HWWS typically presents after menarche with progressive cyclic pelvic pain, dysmenorrhea, and occasionally a palpable mass secondary to hematocolpos [ 4 ]. Delay in diagnosis is common and may result in endometriosis, pelvic adhesions, chronic infection, and infertility, and thus early diagnosis is essential [ 2 , 5 ]. Imaging studies, especially ultrasound (US), magnetic resonance imaging (MRI), and computed tomography (CT), are crucial in precise diagnosis, identification of anatomical anomalies, and preoperative evaluation [ 3 , 4 ]. In definitive treatment, surgical correction—in the majority of cases, transvaginal septal excision or vaginoplasty—is carried out to remove obstruction and preserve reproductive function. This case report depicts the clinical presentation, radiologic diagnosis, and successful surgical treatment of HWWS in a 14-year-old girl and highlights the importance of early recognition of this rare anomaly.