[Prune belly syndrome. Necropsy study of 2 cases]

Area of Science:

• Pediatric Urology
• Developmental Biology
• Medical Genetics

Background:

• Prune Belly syndrome is a rare congenital disorder typically affecting males, characterized by abdominal muscle deficiency, urinary tract abnormalities, and cryptorchidism.
• Understanding the pathogenesis of Prune Belly syndrome is crucial for diagnosis and management.
• Previous theories have proposed various causes, including genetic and mechanical factors.

Observation:

• Two cases of Prune Belly syndrome in newborns (one female, one male) are presented.
• Both cases exhibited urethral obstruction and additional congenital anomalies.
• The female neonate had imperforate anus, vaginal septae, and a bicornuate uterus.
• The male neonate presented with unilateral anorchia and hyaline membrane disease.

Findings:

• The observed malformations in these cases, particularly the complex anomalies in the female newborn, provide further evidence supporting the mechanical pathogenic theory of Prune Belly syndrome.
• Cytogenetic analysis revealed normal karyotypes in both patients, ruling out chromosomal abnormalities as the cause.
• The absence of detected chromosomal abnormalities strengthens the focus on mechanical factors in Prune Belly syndrome development.

Implications:

• These findings underscore the importance of considering mechanical obstruction as a significant factor in the etiology of Prune Belly syndrome, even in female cases.
• The detailed case reports can aid clinicians in recognizing and managing the diverse spectrum of anomalies associated with this syndrome.
• Further research into mechanical forces during fetal development may elucidate the precise mechanisms underlying Prune Belly syndrome.