|Year : 2018 | Volume
| Issue : 3 | Page : 181-184
Prune-Belly syndrome with VACTERL association: A rare case
Sudhir Singh1, Jiledar Rawat1, Nitin Pant1, Sarita Singh2
1 Department of Paediatric Surgery, King George's Medical University, Lucknow, Uttar Pradesh, India
2 Department of Anesthesia, King George's Medical University, Lucknow, Uttar Pradesh, India
|Date of Web Publication||2-Aug-2018|
Dr. Sudhir Singh
Department of Paediatric Surgery, King George's Medical University, Lucknow - 226 003, Uttar Pradesh
Source of Support: None, Conflict of Interest: None
Prune-Belly syndrome (PBS) is a rare congenital anomaly. It consists of genital and urinary abnormalities with partial or complete absence of abdominal wall musculature. Intrauterine consequences of this syndrome are oligohydramnios, pulmonary hypoplasia, and Potter's facies. Occasionally, the syndrome can have a broad spectrum of affected anatomy with different levels of severity. Here, we are reporting a rare case of PBS with VACTERL association. Six cases have been reported till now in English literature.
Keywords: Mesodermal arrest, Prune-Belly syndrome, VACTERL association
|How to cite this article:|
Singh S, Rawat J, Pant N, Singh S. Prune-Belly syndrome with VACTERL association: A rare case. J Clin Neonatol 2018;7:181-4
Prune-Belly syndrome also known as Eagle-Barrett syndrome More Details or Triad syndrome has an incidence between 1 in 29,000 and 1 in 40,000 live male births with a male to female ratio of 20:1. The syndrome consists of a triad of abdominal wall deficiency, urogenital abnormalities, and undescended testis. VACTERL/VATER association is typically defined by the presence of at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. The incidence is estimated at approximately 1 in 10,000—1 in 40,000 live-born infants. The theory, known as the theory of mesodermal arrest, includes an aberration of mesenchymal development between the three and 4 weeks of gestation can explain the occurrence of both congenital defects.
A full term, 2.2 kg male, born to a primi mother was brought to our outpatient department at day 12 of life with an absent anal opening. He did not pass urine in stream per urethra and was passing urine and stool through the umbilicus. There was no history of meconurea. On examination, the patient had mild dehydration, mild icterus, loose abdominal musculature, stool and urine were seen coming through an opening at umbilicus [Figure 1]a. The child had been decompressing well from the umbilicus as he did not have any abdominal distension and vomiting. He also had bilateral impalpable undescended testis and a buried penis. Examination of the perineum revealed a moderately well-developed anal pit and median raphe [Figure 1]b. He also had a midline cystic swelling at lumbosacral region [Figure 1]c. On examinations of lower limbs, congenital talipes equinovarus (CTEV) was present. On auscultation of the chest, a pansystolic murmur was audible. His kidney function was mildly deranged (Serum urea: 60mg%, and Serum creatinine: 1.0mg%) and liver function test was suggestive of physiological jaundice. Ultrasonography of abdomen and spine were suggestive of bilateral hydroureteronephrosis with distended bladder, a patent urachus, and lumbosacral meningomyelocele. Echocardiogram was suggestive of a small <3 mm ventricular septal defect (VSD). A provisional diagnosis of Prune-Belly syndrome (PBS) with high ARM with lumbosacral myelomeningocele with bilateral CTEV with buried penis with small VSD was made. After initial resuscitation, the patient was planned for a laparotomy. He was explored through a left lower abdominal oblique incision. Peroperatively, there was a patent vitellointestinal duct (VID) with a patent urachus. The rectum was very mildly distended with meconium as it was unused. The bladder was distended and thick walled. Resection of the VID segment along with end-to-end anastomoses, a high sigmoid loop colostomy and a vesicostomy incorporating the urachus segment was done. The patient recovered well and was discharged on postoperative day 8. We cannot follow the baby as he did not return to us and we were not able to contact the parents.
|Figure 1: (a) Loose abdominal musculature, stool and urine were seen coming through an opening at umbilicus (shown by arrow), (b) Perineum showed a moderately well-developed anal pit and median raphe (shown by arrow), (c) Midline cystic swelling at lumbosacral region (shown by arrow)|
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Theories described for etiology of PBS were embryological aberration of mesodermal development, fetal urethral obstruction, X-linked recessive chromosomal inheritance, oligohydramnios, and delayed canalization. The most convincing theory encompasses genitourinary tract, testes, and abdominal wall musculature problems occurring as a direct result of a disturbance early in embryogenesis. This theory, known as the theory of mesodermal arrest, includes an aberration of mesenchymal development between the three and 4 weeks of gestation. Others theory described as the etiology not getting much acceptance. The PBS has a broad spectrum of affected anatomy with different levels of severity. The common are cardiovascular, respiratory, orthopedic, and gastrointestinal anomalies. As in our case, PBS is presented with spinal, anorectal, cardiac, renal, and limb anomalies: fit in VACTERL association. There were six other cases also described in literature as shown in [Table 1].,,,,, In our case, there was no trachea esophageal abnormality.
|Table 1: Reported cases of Prune-Belly Syndrome with VACTERL/VATER association|
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Associations are derivatives of causally nonspecific disruptive events acting on the developmental field which could be the entire embryo during first 4 weeks of life. This pattern of malformation generally has a sporadic occurrence in an otherwise normal family. A disruption in differentiating mesoderm in first 4—5 weeks has been suggested to be the basis for such a non-random association. Other defects of mesodermal origin such as neural tube defects, orofacial clefts, bladder exstrophy and diaphragmatic defects, CHARGE association and Goldenhar syndrome overlap implies an etiologic commonality which has been described as the axial mesodermal dysplasia spectrum. Early disturbance of mesodermal development in both the abdominal wall and the urinary tract has also been suggested to be responsible for Prune-Belly syndrome. As both VACTERL association and Prune-Belly syndrome have a common etiology of a defect in the differentiating mesoderm in the early 1st trimester, support the theory of mesodermal arrest. Our case was managed with minimal initial surgical intervention.
PBS is a complex congenital anomaly. This can present in rare association with abnormalities of other system. The initial surgical approach should be minimal life-saving procedure; aggressive corrective surgery should be avoided.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published and due efforts will be made to conceal patient identity, but anonymity cannot be guaranteed.
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Conflicts of interest
There are no conflicts of interest.
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