[Prune-belly syndrome in a female]

Area of Science:

• Pediatric Urology
• Medical Genetics
• Developmental Biology

Background:

• Prune-Belly Syndrome (PBS) is a rare congenital disorder typically affecting males, characterized by the triad of abdominal muscle deficiency, urinary tract malformations, and cryptorchidism.
• The exact etiology of PBS remains debated, with various theories including genetic factors, intrauterine obstruction, and developmental abnormalities.

Observation:

• This report details an exceptionally rare case of a female newborn diagnosed with Prune-Belly Syndrome.
• The patient presented with significant malformations of the genitourinary tract, severe abdominal muscle deficiency, and renal dysplasia.
• Associated congenital anomalies were also noted, adding complexity to the clinical presentation.

Findings:

• The female presentation of Prune-Belly Syndrome is exceedingly uncommon, challenging traditional understandings of the condition's sex predilection.
• The observed constellation of malformations in this case provides valuable data for understanding the phenotypic spectrum of PBS.
• The case highlights the importance of considering PBS in neonates with severe abdominal wall defects and genitourinary anomalies, regardless of sex.

Implications:

• This case contributes to the limited literature on female Prune-Belly Syndrome, potentially refining diagnostic criteria and genetic counseling approaches.
• Further investigation into the genetic and developmental pathways underlying PBS is warranted, particularly concerning sex-specific variations.
• Understanding the pathogenesis of this syndrome is crucial for improving prenatal diagnosis, management strategies, and long-term outcomes for affected individuals.