Prune belly syndrome associated with full spectrum of VACTERL in a new born

Abstract

Prune belly syndrome (PBS) is a rare congenital anomaly of uncertain etiology. Many associations of PBS with other malformations were previously reported, but only few cases of the association with VACTERL have been described. We report a rare case of a Moroccan new born with PBS and complete VACTERL association. The cause of this association is still unknown, but a common etiology is possible, especially when for the two syndromes, a defect in mesodermal differentiation, in early first trimester, has been suggested.

Pseudo Prune Belly Syndrome: Diagnosis Revealed by Imaging – A Case Report and Brief Review

“…The literature on aetiological and embryogenetic factors of PBS and PPBS is controversial. Some investigators postulate that the disease is due to three possible factors occurring during embryogenesis: severe bladder outlet obstruction, dysgenesis of yolk sac and possibly due to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between 6 th to 10 th weeks of pregnancy [ 1 , 3 , 4 ]. The chronic obstruction at the bladder neck is attributed to a dysplastic and dysfunctional posterior urethra [ 2 ].…”

“…Familial occurrence of the disease had suggested a genetic cause, but Granberg et al have shown that the implicated HNF1β mutation was detected only in 3% of patients with prune belly syndrome [ 6 ]. Associated anomalies are numerous and include those of the VACTERL group, gastrointestinal, orthopaedic and cardiopulmonary systems [ 1 , 3 , 4 , 7 ]. We presume that the aetiological and genetic factors and the associated anomalies in PBS and PPBS are similar, as these entities belong to a single group of congenital defects lying at both ends of a spectrum, and only differ in the severity of manifestations.…”

“…Prune Belly Syndrome (PBS) or the triad syndrome, is a rare entity, usually described in male neonates. It comprises complex urinary tract anomalies, bilateral undescended testis and absence of anterior abdominal wall muscles [ 1 – 3 ]. The anomaly, which is named after the wrinkled appearance of the abdominal wall resembling a dried prune, is believed to occur in 1 in 40,000 live births, with >95% occurring in males [ 1 , 4 ].…”

Exploration of the fetus with gross anomaly: a case of pseudo prune belly syndrome

“…Prune belly syndrome (PBS) is a rare and usually a fatal congenital condition which presents with a partial or complete triad of deficient or absence of abdominal musculature, cryptorchidism and urinary tract anomalies [ 1 2 3 ]. Other congenital anomalies such as pulmonary hypoplasia, potters facies, clubfoot, imperforate anus are also found to be associated with PBS [ 4 ].…”

“…Genetically normal karyotyping is observed in most of the case of PBS [ 5 ]. However, Younous et al [ 3 ] and Metwalley et al [ 7 ] had reported PBS to be associated with Down's syndrome and other malformations like Vacteryl. Also, the chromosome 17q 12 deletions encompassing hepatocyte nuclear factor 1-β (HNF 1-β) can be determinate in cases of PBS [ 8 ].…”