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Complete Urorectal Septum Malformation Sequence Associated with Prune Belly Syndrome and Omphalocele

Bilal Mirza, Muhammad Saleem 

Department of Pediatric Surgery, Children’s Hospital and Institute of Child Health, Lahore, Pakistan

 

Correspondence:

Muhammad Bilal Mirza

Department of Pediatric Surgery

Children’s Hospital and Institute of Child Health

Ferozepur Road, Lahore, Punjab, Pakistan

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Abstract

Complete urorectal septum malformation sequence is a fatal congenital entity with very high mortality. We present the case of a newborn with imperforate anus, aphalia, and ruptured omphalocele. Abdominal wall was wrinkled and thinned similar with prune belly. Further workup depicted right renal agenesis. The newborn developed sepsis while admitted to our hospital and succumbed.

Keywords: urorectal septum malformation sequence, prune belly syndrome, omphalocele

 

Introduction

Anorectal malformations may be encountered as simple as anal stenosis with merely minute disruption in the normal development of the ano-rectum or, at the other end of this spectrum, it may be a part of more extensive anomaly involving the entire caudal aspects of the developing fetus.

Complete variety of urorectal septum malformation sequence (URSMS) is a severe congenital disruption characterized by absence of any of perineal openings, a vestigial cutaneous tissue devoid of any urethra in place of phallus, malformations of distal alimentary tract, urinary system, and spine [1,2]. Its coexistence with other congenital anomalies with an overlap of organ involvement suggests even more exquisite damage thus worsening the prognosis further [1-3]. We herein describe a case of complete URSMS associated with prune belly, omphalocele, and patent urachus.

Case Report

A newborn, weighing 2.5 kg, born by spontaneous vaginal delivery at a peripheral center, was transferred on first day of life with no perineal openings (imperforate anus and aphalia) but with passage of urine and meconium through the ruptured omphalocele.

The newborn was a product of consanguineous marriage and parents refuted any exposure to drugs or teratogens during gestation. No antenatal scans were performed however the pregnancy and delivery both were described as uneventful. The grandmother described that the omphalocele was intact at birth and the neonate passed urine through the caudal aspect of omphalocele; however over a few hours, the omphalocele ruptured spontaneously and meconium also started pouring out of the omphalocele.

On examination, the neonate neither had Potter facies and nor there was any respiratory distress. Temperature was 96F, respiratory rate was 55/min, and pulse was 150/min. There were no perineal openings and a skin protuberance, devoid of urethra, was present at the location of normal phallus. The anterior abdominal wall was lax and thin as in prune belly syndrome. At the site of umbilicus here was a ruptured omphalocele (Fig. 1 and 2).

On careful examination of the ruptured omphalocele, a patent urachus was found at the caudal aspect of the exomphalos. Few loops of small bowel were fixed at the defect and meconium was pouring out through one of the perforated loops.

Figure 1: Figure showing ruptured omphalocele sac, wrinkled and lax abdominal wall, and aphalia. Potter facies is not present.

fig 5-1

Figure 2: Close view showing imperforate anus, aphalia, ruptured omphalocele with passage of meconium and site of patent urachus (arrow).

fig 5-2

The omphalocele sac was all meconium stained. The patient was resuscitatedin the neonatal unit and further workup done. An erect X-ray abdomen scan did not show pneumoperitoneum or air fluid levels. Abdomen ultrasound revealed right renal agenesis and an empty urinary bladder. The initial laboratory work up including complete blood count (CBC), renal function tests (RFTs), serum electrolytes were normal. The patient was planned for surgical exploration with creation of a bowel stoma, vesicostomy, and closure of omphalocele defect on elective surgery however the neonate developed signs of sepsis with raised C-reactive protein and deranged clotting profile along with thrombocytopenia. The patient succumbed to sepsis on the 5th day of life.

Discussion

Association of URSMS and Prune belly has rarely been described in literature. On review of the literature only two casespointed this rare association.

First case was that of a stillborn fetus reported in 2013 by Goswami et al. [3], the second case was reported in 2014 by Farooqui et al. [4]. Now we are reporting a case of URSMS associated with prune belly syndrome and omphalocele. No other case of complete variety of URSMS associated with prune belly syndrome and omphalocele could be found on literature search. Nevertheless, a case of URSMS associated with omphalocele alone has been reported by Patilet et al. [5].

Giuliani et al. [6] reported a case of prune belly syndrome associated with omphalocele, patent urachus, and persistent cloaca. Their extrapolation revolved around prune belly syndrome, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMHPS), and OEIS (omphalocele, exstrophy, imperforate anus, spinal anomaly) complex as differential diagnoses; we, however, believe that their case can more plausibly be a partial URSMS associated with prune belly syndrome, patent urachus, and omphalocele. Similarly, our case was associated with the same types of malformations as reported by Giuliani et al. [6] but there was a complete variety of URSMS in the index case.

Complete URSMS is a fatal condition with over 95% mortality which is attributed to oligohydramnios secondary to urethral atresia (aphalia) resulting in pulmonary hypoplasia and potter sequence [1-3]. Very few survivors are those associated with patent urachus that enabled urinary drainage thus helped thwarting potter sequence[7]. Few recent reports of survival with in-utero interventions (vesico-amniotic shunt) have emerged in literature [8,9]. Simultaneous presence of prune belly syndrome would further detriment the prognosis [3,4]. In the two reported cases of URSMS with prune belly syndrome, one was a stillborn and other died at 3 months of age (survived due to patent urachus) due to urinary tract infection related sepsis [3,4].

Giuliani et al. [6], however, successfully managed their case and the follow-up was up to 33 months. Further fate is not known as they had to perform multiple surgical interventions. Our case also had patent urachus which justified absence of potter sequence and pulmonary hypoplasia.The ruptured omphalocele may also not be the accusatory factor for mortality as the gut loops were fixed at the omphalocele defect and abdomen was soft with passage of meconium through omphalocele defect till the day of demise. As the neonate was born at a peripheral centre (mostly have poor sterilization practices) may also be a reason of early onset of sepsis.

To infer, URSMS associated with prune belly syndrome and omphalocele is a very rare entity. Presence of anorectal malformation in a case of prune belly syndrome especially in a female neonate warrants pondering on lines of associated URSMS. The concurrent abdominal wall defect (omphalocele) with these complex malformations point towards a common pathway in their development. The severity of developmental aberration drives to the specific anomalies which we consider as a set in a particular malformation.



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