Background: Prune belly syndrome (PBS) is a rare congenital disorder defined by deficient abdominal musculature, urinary tract anomalies and cryptorchidism. Clinical presentation is variable, and extrarenal malformations are common. Materials and Methods: A retrospective descriptive study of seven patients diagnosed with PBS between 1990 and 2024 in a tertiary-care hospital was carried out. Clinical, biochemical, radiological, auxological and surgical data were reviewed. Results: All patients had megacystis and abdominal muscle hypoplasia. Megalourethra was observed in three (43%), cryptorchidism in six (86%), hydronephrosis in all cases and renal dysplasia in four (57%). Extrarenal anomalies included congenital heart disease in three patients (43%), musculoskeletal defects in three (43%) and other malformations in two (28%). Mean serum creatinine level was 0.83 mg/dL at birth and 1.30 mg/dL at the last follow-up. Two patients (28%) required clean intermittent catheterisation, and one (14%) underwent renal transplantation at 14 years. Surgical procedures included orchidopexy in five patients (71%), vesicostomy in four (57%) and Mitrofanoff appendicovesicostomy in one patient. Conclusions: PBS is a rare disorder with a heterogeneous clinical spectrum. This cohort revealed a high prevalence of cardiac anomalies. Renal dysplasia, recurrent urinary tract infections and delayed surgical intervention were associated with progressive renal impairment. Management in centres with multidisciplinary teams is essential.
Roche-Gomez et al. (Thu,) studied this question.