Prune-Belly Syndrome: Case Series and Review of the Literature Regarding Early Prenatal Diagnosis, Epidemiology, Genetic Factors, Treatment, and Prognosis

Abstract

Prune-belly syndrome (PBS) is a rare congenital syndrome characterized by deficient abdominal muscles, urinary tract malformation, and in males, cryptorchidism and has an estimated incidence of 1 in 35,000 to 1 in 50,000 live births. The syndrome might be due to severe bladder outlet obstruction or to abdominal muscle deficiency secondary to a migrational defect of the lateral mesoblast between weeks 6 and 7 of pregnancy. The current review of the medical record reports a special focus on epidemiology, genetic factors, early prenatal diagnosis clusters, treatment, and prognosis of PBS.

Prenatal diagnosis of sex chromosome aneuploidies and disorders of sex development – a retrospective analysis of 11-year data

“…The etiology of prune belly sequence is still unknown. Only 3-5% of cases are females [25]. There are only few published reports of the association of a prune belly sequence with some type of sex chromosome abnormality [1,8,23].…”

Prognosis of Isolated First-Trimester Fetal Megacystis with Spontaneous Resolution

“…These diseases are symptoms of an abnormal abdominal muscle wall. The relationship between pathology of abdominal muscle wall and fetal megacystis has been previously evoked in Prune belly syndrome [8] . A link between inguinal hernia or cryptorchidism and first-trimester fetal megacystis cannot be concluded on the basis of these observations, but is worth considering.…”

A First Description of Prune Belly Syndrome in Central Africa

“…The impaired elimination of urine from the bladder leads to oligohydramnios. 1,4,5 Developmental delays and growth retardation have also been reported.…”

“…Clinical features of our patient were similar to those described in literature and were suggestive of PBS. 1,4 The etiology of PBS is poorly understood. The deficient abdominal wall musculature associated with prune belly syndrome often results in numerous functional disabilities, including impaired bladder, urinary tract malformation, impaired bowel function, poor posture and balance, and in males, cryptorchidism.…”