1. OHVIRA Syndrome with Imperforate Anus
Peter Cosgrove, MD1; Kyle Kahlden, MD1; Julie Sanchez, MD2; Lori Barr, MD3; Valerie Jurgens, MD1
1Pediatrics, UT Austin Dell Medical School, 2Dept of Pediatric Surgery, 3Dept of Pediatric Radiology, Dell Children’s Medical Center.
Introduction
Results
OHVIRA syndrome (Obstructed hemivagina with ipsilateral renal agenesis), also known as Herlyn-Werner-Wunderlich (HWWS), is a rare Mullerian duct anomaly (MDA) that results in uterine didelphys, obstructed vaginal vault, and unilateral renal agenesis. It may present at birth or soon after the beginning of menses as fluid collects in the obstructed vaginal vault. Literature review describes association with acute abdomen presentation and rare reports of intestinal malrotation or abdominal vascular anomalies. We describe a case with the first documented association of OHVIRA syndrome with an ano-rectal malformation.
Obstructed hemivagina with ipsilateral renal agenesis (OHVIRA) syndrome is a rare entity among females resulting from failure of the distal Mullerian tubes to fuse normally by the 10th week of gestation.3 Patients with HWWS are often asymptomatic until menarche when they present with progressive pain due to hydrometrocolpos and hemivaginal obstruction within the first year.4
Case Presentation LV
An 11-year-old girl presented with five days of acute colicky abdominal pain. At presentation she was afebrile without back pain, dysuria, chills nor vaginal discharge. Menarche occurred six months prior and her last menstrual period was two weeks prior. She denied dysmenorrhea and menorrhagia. Prior history included primary anoplasty repair for imperforate anus with intermittent dilations, solitary left kidney with pyelonephritis and intermittent constipation. She was admitted for concern for subacute obstruction and bowel clean-out for constipation.
Laboratory examination indicated peripheral blood leukocytosis but otherwise normal renal and liver function. Urinalysis and urine culture were normal without pyuria and urinary hCG was negative. Nuclear renogram and renal ultrasound confirmed the solitary left kidney with compensatory hypertrophy noted. Abdominal plain films were normal. Transabdominal pelvic ultrasound revealed a fluid-filled structure posterior to the bladder thought to represent hematocolpos. Abdominal magnetic resonance imaging (MRI) without contrast re-demonstrated the unilateral left kidney. Pelvis MRI without contrast demonstrated uterus didelphys with two vaginas, two uteri and two ovaries. Both vaginas and the right uterus and right fallopian tube were distended with complex fluid. RV
Figure 4: T2-weighted,fat-saturated coronal view of the pelvis demonstrates the dilated right vagina (RV) and the more dilated left vagina (LV).
Mullerian duct anomalies detected by ultrasound are described as 4 in 1,000 women between the ages of 8 and 93 years.3 Incidence may be as high as 25% in women with recurrent miscarriages and subfertility.4 Renal agenesis occurs more frequently in uterus didelphys and can be found in up to 29.8% of MDAs. Anorectal malformations range from 2 to 6 per 10,000 live births worldwide.5
Vagina, external view. The retractor is in the patent left hemivagina. The whitish structure in the middle is the right hemivaginal bulge.
External view: 2 silk sutures on the edges of the hemivaginal bulge, which has been incised, hematocolpos draining out. Note the foley (left) and retractor (right) on top
External view of vagina post excision. The middle is the suture line from the vaginal septum. The top cavity (redder) is the formerly obstructed right hemivagina. The bottom cavity (pink) is the patent left hemivagina.
Figure 1: TC-99m DMSA Kidney Scan demonstrates absent right kidney.
Hospital Course
She started a course of prophylactic antibiotics and started oral contraceptive pills to further suppress menstrual flow even though her only sign of infection was mild leukocytosis. Thereafter she underwent cystoscopy, vaginoscopy and vaginoplasty under general anesthesia. Cystoscopy was normal except for deviation of the bladder anteriorly due to extrinsic compression and a single ureteral opening on the left consistent with her right renal agenesis. Vaginoscopy identified the patient’s right hemivaginal bulge compressing the left cervix. The hemivaginal bulge was incised allowing drainage of the hematocolpos. The vaginal septum was then excised with primary closure to allow confluence of the formerly obstructed right hemivagina and the patent left hemivagina. Her pain has subsequently improved and there is no current plan for further surgery.
Take Home Points
Present with progressive pain due to hydrometrocolpos and hemivaginal obstruction within the first year after menarche1
Recognize that solitary kidney is associated with mullerian duct anomaly
If congenital absence of a kidney in a female, transabdominal pelvis ultrasound should be used to identify the uterus and both ovaries.
MRI has now rendered laparoscopy only to cases with the need to clarify anatomy or treat concomitant endometriosis
References RU RV
Smith NA, Laufer MR. Obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome: management and follow-up. Fertility and sterility 2007;87:918-22
Haddad B, Barranger E, Paniel BJ. Blind hemivagina: long-term follow-up and reproductive performance in 42 cases. Human reproduction (Oxford, England) 1999;14:1962-4
Byrne J, Nussbaum-Blask A, Taylor WS, et al. Prevalence of Mullerian duct anomalies detected at ultrasound. American journal of medical genetics 2000;94:9-12.
Acien P. Incidence of Mullerian defects in fertile and infertile women. Human reproduction (Oxford, England) 1997;12:
Organization WH. International Clearinghouse for Birth Defects Surveillance and Research. Birth defects surveillance: a manual for programme managers Geneva: World Health Organization 2014.
Figure 2: T2-weighted, fat-saturated axial image of the pelvis: right uterus (RU) and dilated right vagina (RV).
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