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Abstract

A newborn with Herlyn–Werner–Wunderlich Syndrome presented with interlabial cyst. The cyst was punctured and instilled with contrast medium for cystography to demonstrate the anatomy. Simple resection of the hemivagina septum at the same sitting resolved the obstruction. Early interventions done to clinch diagnosis and institute treatment would help to prevent future complications associated with menses retention and preserve fertility.

Keywords

Hemivagina interlabial cyst uterus didelphys Gartner’s duct cyst newborn

Introduction

Herlyn–Werner–Wunderlich Syndrome (HWWS) comprises the triad of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis.^1,2 It is a rare congenital anomaly with reported cases mainly comprising postpubertal females whose symptoms were precipitated by menses retention.³ Presentation in the newborn period is extremely rare. Only a handful of other newborns have been reported in the literature (Table 1).^4–10 The embryologic reason for this anomaly is postulated to be defective development of the caudal end of the Wolffian duct causing impairment of the proper development of Müllerian ducts.¹¹ The diagnosis of HWWS should be considered in a newborn with interlabial cyst, especially when accompanied by antenatal diagnosis of absent or multicystic dysplastic kidney (MCDK).¹²

Table 1.

Characteristics of reported newborn patients (up to one month old) with Herlyn–Werner–Wunderlich Syndrome.

First author	Year	Case	Prenatal diagnosis	Symptom	Diagnostic imaging	Surgery
Capito	2008	1	Large pelvic mass, right pelvic MCDK	Vulvar mass	US, IVP/scintigraphy	Endoscopy, resection of vaginal septum. Nephrectomies were performed for two patients with non-functioning kidneys and ectopic ureters ending in blind vagina
		2	Small pelvic mass, right MCDK	Vulvar mass
		3	Left pelvic MCDK	Vulvar mass
		4	−	Vulvar mass
Vivier	2011	5	Dilated left pelvic kidney	−	US and MRI	Transhymenal resection, intraoperative endoscopy
Wu	2012	6	Right renal agenesis	Mass at vaginal introitus	US and MRI	Incision and catheter drainage, hysteroscopy
Han	2013	7	Absent left kidney and retrovesical lesion	−	US and MRI	Resection of vaginal septum
Fraga	2015	8^a	Left kidney agenesis and nasal bone hypoplasia	−	US	−
Anjali	2015	9^b	−	−	US and MRI	−
Sakaguchi	2017	10	−	Mass at vaginal introitus	US	Transhymenal resection
This case	2018	11	Right MCDK	Interlabial cyst	US	Resection of vaginal septum and intraoperative cystography

Postnatally diagnosed as having Prader–Willi Syndrome.

Postnatally diagnosed as having rectovesical fistula and meningomyelocele.

US: ultrasound; MRI: magnetic resonance imaging; IVP: intravenous pyelogram; MCDK: multicystic dysplastic kidney.

Case report

This patient was delivered at 36 weeks via Caesarean section. Right MCDK was suspected on foetal anomaly scan at 32 weeks of gestation, which was later confirmed by postnatal ultrasound done on the second day of life.

On routine follow-up at one month of age, a painless interlabial cyst was detected. The child was passing urine well and there was no palpable bladder to suggest urinary retention. Ultrasonography of the abdomen and pelvis revealed distended right hemivagina associated with uterus didelphys and ipsilateral MCDK.

On examination under general anaesthesia, the interlabial cyst was pearly grey in colour and thin-walled with surface capillary vessels (Figure 1). A normal-positioned urethral meatus cephalad to the cyst and a patent vagina opening to the left of the cyst were identified. The cyst was punctured and gently instilled with contrast medium by hand-push. Serial radiographs demonstrated contrast flowing through the two communicating hemivaginas, two divergent uterine horns and, subsequently, the Fallopian tubes. Another cystic structure, likely a Gartner’s duct cyst, also appeared (Figure 2).

Figure 1.

Interlabial cyst in a newborn girl.

Figure 2.

Serial radiographs (i–iii) were taken during contrast medium instillation of the interlabial cyst. Contrast first filled up the obstructed right hemivagina (a) and the right uterine horn (b). Subsequently, the left hemivagina (c), left uterine horn (d) and also the two Fallopian tubes (e) were seen. A third structure, likely a Gartner’s cyst (f), appeared last and was in relation with the duplicated uterovaginal structures.

Simple excision of the bulging right hemivagina septum was performed (Figure 3). Recovery was uneventful. At three months old, the right MCDK atrophied, as evidenced by ultrasonography. She was managed expectantly for the possible Gartner’s duct cyst.

Figure 3.

Post-operative appearance of the introitus with simple excision of septum done to relieve the obstruction.

Discussion

HWWS classically involves the constellation of uterine didelphys, hemivagina septum and ipsilateral renal agenesis. The renal anomaly encompasses more than true renal agenesis and includes dysplasia with varying degree of involution.¹³

Literature about this syndrome in the paediatric age group is sparse as most reported cases consisted of post-pubertal females. In one of the largest series, the patients presented with a peak incidence at 10–15 years of age with dysmenorrhea, paravaginal mass, vaginal discharge, lower abdominal pain or pyocolpus.¹⁴ The diagnosis can be missed when regular menstruation occurs from the contralateral hemivagina. If left untreated, future fertility can be compromised by various complications such as endometriosis, pelvic adhesions, pyosalpinx and pyocolpus.¹⁴

Only a handful of cases presented in the newborn period, and the most common clinical feature was the development of an interlabial cyst, which resulted from distension of the obstructed hemivagina with secretions due to maternal oestrogenic effect (Table 1). This mode of presentation affords an opportunity for early diagnosis and treatment, which is immeasurably important for the prevention of complications with irreversible damage to the reproductive organs. For this purpose, we propose early intervention with examination under anaesthesia and cystography to confirm the diagnosis, and prompt resection of the obstructing hemivagina septum. While the operation does not need to be done emergently, the window of opportunity does slip away with the regression of the cyst as maternal hormones recede, as occurred to a newborn described by Capito et al.¹⁰

Coupled with good examination, cystography would be able to discern HWWS from other main differential diagnoses of an interlabial cyst in a newborn; which include prolapsed ectopic ureterocele, hydrocolpus from imperforate hymen, paraurethral cyst (Skene cyst), simple hymenal cyst and sarcoma botyroids.¹⁵ Prolapsing ureterocele presents with difficulty in urination along with a protruding mass from the urethral meatus. Instillation of contrast medium in this case will demonstrate its continuity with the ureter. For imperforate hymen, contrast medium will light up the non-duplicated reproductive structures. A paraurethral cyst is filled with milky-coloured fluid and it is located adjacent to one side of the urethral meatus, slightly distorting it but not obstructing urine flow. A hymenal cyst is attached to the hymen at the vaginal orifice. For paraurethral cyst and hymenal cyst, injected contrast medium will just show the cyst interior. Sarcoma botryoids has a characteristic appearance of a grape-like cluster such that imaging before biopsy is rarely necessary.

Currently, ultrasonography and magnetic resonance imaging (MRI) are the modalities of choice for the diagnosis and surgical planning of HWWS.¹⁶ While ultrasonography was often used as the initial diagnostic imaging, a good number of cases underwent other investigations, often in the form of MRI and endoscopy (Table 1). Small anatomical structures posed a challenge when endoscopic examination was employed.⁵ MRI gave good morphological definition due to its multiplanar capability, and was advantageous in older patients to locate associated complications, that is, endometriosis, pelvic inflammation and adhesions.¹⁷ We found cystography particularly useful as a diagnostic modality when interlabial cyst was the presenting feature of a newborn with HWWS. It efficiently allowed the confirmation of diagnosis with clear demonstration of the duplicated uterovaginal structure, the communication between vaginal and uterine lumen, and the associated Gartner’s duct cyst. But this method inherently involved the exposure of ionizing radiation to a newborn, which we attempted to reduce by capturing images serially, and by not using a continuous X-ray beam.

Excision of the obstructing vaginal septum is the current preferred surgical treatment as it offers complete relief of obstruction and preserves reproductive potential.^18,19 The prognosis is good when the condition is promptly recognized and managed early, with many able to achieve successful pregnancy. Gartner’s duct cyst is known to be associated with this syndrome and is formed by a mesonephric remnant which has remained in the vaginal wall.¹¹ If the Gartner’s duct cyst is asymptomatic and is associated with a non-functioning kidney, it can be observed. Aspiration and simple excision of the Gartner’s duct cyst can be performed for symptomatic lesions.

Conclusions

In summary, presence of prenatal MCDK and postnatal interlabial cyst should alert one to the possibility of HWWS. Newborn presentation with interlabial cyst presents a unique opportunity to make an early diagnosis with cystography, and provide early treatment with resection of the obstructing hemivagina septum, to prevent complications and preserve future fertility.

Supplemental Material

supplementalhww – Supplemental material for Herlyn–Werner–Wunderlich Syndrome: Case report of a newborn presenting with interlabial cyst

Supplemental material, supplementalhww for Herlyn–Werner–Wunderlich Syndrome: Case report of a newborn presenting with interlabial cyst by Yee Ling Cheong and Narasimhan Kannan Laksmi in Proceedings of Singapore Healthcare

Footnotes

Author contribution

Both authors conceptualized the project and performed literature review. CYL prepared the initial manuscript. NKL revised the manuscript and made critical changes. Both authors were responsible for the overall surgical care of the patient. Both authors read and approved the manuscript.

Declaration of conflicting interests

The authors declare that there is no conflict of interest.

Funding

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

Informed consent

Written informed consent was obtained from the patients for their anonymized information to be published in this article.

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Supplementary Material

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