INTRODUCTION

Prune Belly Syndrome, also referred to as Eagle-Barret syndrome, is a rare disease that affects about 3.8 live births per 100,000 births in the United States. It is more common in boys, rare in girls, in only 3 to 5% of cases¹ . Parker and Guthrie first described it in 1895 and Osler in 1901. However, the term “prune belly syndrome” was given by Eagle and Barrett in 1950² .

This disease is characterized by the triad: abdominal wall defect, cryptorchidism, and urinary malformations, such as ureterohydronephrosis, renal dysplasia, and megabladder^{1 - 3} . The etiology is not entirely understood; however, it is known that there is a defect in the mesenchymal differentiation between the 6th and 10th week of gestational age^{1 - 3} .

The earlier the malformations are corrected, the better clinical outcomes are expected⁴ . Here we present a report of a late correction due to loss of patient follow-up and the possible negative implications of this delay⁵ .

Patient information and diagnostic evaluation

A 6-year-old male patient. Accompanied in the hospital service since birth. At birth, hy- poplasia of the abdominal muscles was observed and confirmed by a new ultrasound of bilateral ureterohydronephrosis associated with megabladder. The diagnosis was made through gestational ultrasound, which showed bilateral ureterohydronephrosis, bladder wall thickening, and abdominal wall muscle hypoplasia, characterizing the syndrome triad.

Initially followed up by the nephrology and urology team, the patient suffered recurrent urinary infections, most febrile and requiring hospitalization. The patient was scheduled for surgical treatment but lost outpatient follow-up, thus delaying definitive treatment. Figures 1 (A and B) show the patient’s abdominal physical condition when returning to hospital follow-up, evidencing the hypoplasia of the abdominal muscles.

Figure 1 : (A and B): Hypoplasia of the patient’s abdominal muscles 

Therapeutic and surgical approach

After returning from hospital follow-up at six years of age, the patient showed the fol- lowing anatomical alterations: bilateral megaureter, megabladder, persistent urachus, cryptorchidism, hypoplasia of the rectus abdominis, and phimosis.

Surgical treatment was proposed, the gold standard for correcting urinary anatomical alterations and abdominal wall defects.

Intraoperatively, a ureteroscopy was performed, which showed significant narrowing in the left ureter. Therefore, left ureteral reimplantation was chosen. Associated with ura- chal excision, bilateral orchidopexy, postectomy, and Monford abdominoplasty, as shown in figures 2 (A and B) and 3 . The immediate postoperative appearance is shown in figure 4

Figure 2 : (A and B) shows: intraoperatively, the marking of the skin flap to be removed for the reconstruction of the patient’s abdominal wall is evidenced 

Figure 3 : Incisions in the aponeurosis for intra-abdominal access and carrying out the descent of the testes into the scrotum 

Figure 4 : Immediate postoperative period, showing the appearance after Monford abdominoplasty, orchidopexy, and postectomy 

DISCUSSION

Prune Belly syndrome is a complex disease due to the broad spectrum of clinical symptoms. The syndrome can manifest with signs of the genitourinary, cardiopulmonary, musculoskeletal, or gastrointestinal tract4,5. Therefore, multidisciplinary management is necessary, as presented in this case, involving also different medical subspecialties such as nephrology, urology, pediatric surgery, and plastic surgery. It was also monitored by the physiotherapy and social assistance team.

The disease has different spectra of presentation ranging from I to III stages. Subtype I has high perinatal morbidity due to cardiopulmonary malformations, mainly pulmonary hypoplasia. Most children are stillborn, and newborns remain alive for a few days until death. Patients with subtype II present the full spectrum of the syndrome with the classic triad. Subtype III presents an incomplete phenotype with less severe renal alterations^{4 , 5} . This group is the most benefited in indicating surgical approaches to correct malformations.

Surgical management with correction of cryptorchidism and phimosis should ideally occur between 6 to 18 months due to recurrent urinary tract infections and deterioration of renal function, consequently increasing the morbidity and mortality of these patients^{4 , 5} . The period for performing abdominoplasty and correction of urinary tract malformations remains uncertain.

Seidel et al. report indicating corrections in children under four years old before entering school. Some reports have already shown that the combined approach with correction of urinary malformations, orchidopexy, and abdominoplasty is feasible without increasing perioperative morbidity⁶ .

Delayed correction of cryptorchidism is known to contribute to infertility. However, other mechanisms are associated with infertility in these patients, such as retrograde ejaculation and prostatic, seminal, and vas deferens malformations⁷ .

Abdominoplasty is indicated to improve aesthetics, and intra-abdominal pressure improves bladder emptying. Several techniques are described in the literature, with the Monford technique being the most used with good results⁸ . Fearon et al. bring, as a result of their review, the high need for reoperation to bring the suture edges closer to the skin after correction, reaching up to 20%, as occurred in the case in question⁹ .

The diagnosis of rare congenital diseases is not simple and often occurs late, especially in developing countries such as Brazil, and even if it occurs promptly, treatment is often delayed due to lack of access to the health service, which may compromise the results. It is known that even when correction occurs on time, about 40 to 50% of patients will need renal replacement therapy, and 15% of them will progress to renal transplantation due to renal dysplasia¹⁰ .

CONCLUSION

Pune Belly syndrome is a disease with a broad spectrum of symptoms; therefore, it needs an individualized approach.

The literature shows that even in high-volume hospital settings, the number of cases is low, making it difficult to standardize treatment. Even with early treatments, the rate of renal dysfunction requiring replacement therapy and renal transplantation is high. Studies with a more significant number of patients and longer follow-up times are needed to better understand and manage these patients, aiming to enhance the quality of care delivered.