A Female Infant with Rectovestibular Fistula and Imperforate Hymen

ABSTRACT

In a female neonate with anorectal malformation (ARM), the diagnosis is usually simple. But when there are two openings in the introitus and absent anal opening at the normal site, the scenario poses a diagnostic challenge. Careful and detailed evaluation of anomaly is therefore necessary before planning definitive correction. Imperforate hymen, although is not commonly associated with ARM should always be kept in mind as a differential diagnosis and other vaginal anomalies like Mayer–Rokitansky–Küster–Hauser syndrome should be ruled out before definitive surgical correction.

INTRODUCTION

Imperforate hymen is a congenital anomaly of the female genital tract in which the hymen completely obstructs vaginal opening.[1] Usually, this congenital anomaly is detected during adolescence when the patient presents with amenorrhea and cyclical abdominal pain.[2] However, it can be seen in neonates as an abdominal mass, incidental finding during clinical examination, or while catheterization for other investigations. Herewith, we present this case of a female infant who was diagnosed in infancy while being evaluated for anorectal malformation (ARM).

CASE SUMMARY

A female neonate was admitted to our hospital on day 1 of life with absent anal opening and passing meconium from the introitus. There was no abdominal distension or vomiting. Systemic and abdominal examinations were normal. Perineal examination revealed absent anal opening at the normal site and two openings in the introitus. The anterior opening was small and the patient passed urine through this opening. The posterior opening was bigger in size allowing 8 French infant feeding tube and meconium was coming out of this opening, thereby suggesting a fistula to the rectum. No vaginal opening could be seen and there was a space between these two openings which was bulging when the patient was crying [Figure 1]. Abdominal ultrasound revealed normal urinary system but could not confirm the presence of the uterus. Perineal ultrasound suggested the presence of the vagina. Echocardiography was normal. The patient was started on per rectal washes and observed in the neonatal intensive care unit for a week to ensure adequate deflation of stools.

Figure 1.

Newborn female infant passing meconium from vestibule and bulging of imperforate hymen

Magnetic resonance imaging (MRI) pelvis was done at 10 weeks of age which confirmed the presence of normal vagina and uterus and the presence of the horseshoe kidney. Anterior sagittal anorectoplasty with hymenotomy was done at 3 months of age. No colostomy was done and surgery was done in single stage. The patient is on regular follow-up having completed anal dilatation; vaginal opening and neoanus are at the place without any complications.

DISCUSSION

Imperforate hymen is an uncommon anomaly of the female genital tract, in which the hymen completely obstructs vaginal opening. In neonates, it may present with hydrocolpos or hydrometrocolpos, presenting as abdominal mass.[1]

Absent anal opening and the presence of two orifices at introitus pose a diagnostic challenge. This scenario leads to the differential diagnosis of anorectal agenesis without fistula, a rectovaginal fistula (high or low, rectovestibular fistula with either urogenital sinus or Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome.[3] The association of rectovestibular fistula with imperforate hymen is not commonly reported in the literature. Imperforate hymen is rarely reported to be associated with other anomalies such as vaginal atresia, urogenital sinus, ARMs, and renal anomalies.[4]

Although the management of imperforate hymen is easy, its association with vestibular fistula creates diagnostic difficulty. Differentials to this condition are vestibular fistula with urogenital sinus and MRKH and both of these conditions need major reconstructive surgery for correction, which can be done at the same time of correction for ARM. Therefore, it is extremely necessary to confirm the diagnosis before planning definitive surgery. Ultrasonography and MRI are very helpful in diagnosis as well as to rule out other congenital anomalies. MRI provides details of anatomy such as type and level of ARM, type of fistula, and anatomy of sphincter muscle complex. An additional advantage of MRI over other imaging modalities is its ability to detect other associated anomalies such as urogenital and spinal cord anomalies[5] which are essential for planning definitive management. As in our case, MRI confirmed normal genital tract, thereby suggesting no need for vaginal reconstruction.

A neonate with absent anal opening and two orifices in vestibule who fails to pass meconium within 24 hours of birth suggests Anorectal atresia and usually requires colostomy. The association of MRKH syndrome with rectovestibular fistula is rare and should be suspected in female neonates with ARM and two openings in the introitus. A correct preoperative diagnosis helps to correct both malformations in the same operative procedure.

Early diagnosis and simultaneous correction of vaginal anomaly and anorectoplasty provide added advantages; it prevents psychological trauma and avoids the need for delayed surgical procedures through scarred perineum. Hence, proper evaluation by MRI pelvis should be done before definitive surgery and whenever possible, a single-stage surgery provides maximum benefits.

CONCLUSION

In a female patient with ARM and two openings in the introitus, a careful and detailed evaluation is necessary before definitive surgery. MRI is very valuable in diagnosis and also provides anatomical details. Our case was unique that imperforate hymen, although not reported can present with ARM. Early and single-stage surgery corrects both anomalies and also reduces surgical and psychological trauma to the patient as well as their parents.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.