| ORIGINAL REPORTS |
Prune Belly Syndrome, also known as Eagle-Barrett syndrome, is awell known triad of abdominal muscle deficiency or hypoplasia, urinarytract anomalies, and bilateral cryptorchidism.1 Tracheo-esophagealfistula is a sporadically occurring defect estimated to occur in 1 out4425 live births.2 Only one case of Prune Belly Syndrome, tracheo-esophagealfistula associated with VATER syndrome, and urethral atresia occurringin the same individual has been reported.3 We present a uniquecase involving a 33 week fetus with bladder distention and bilateral hydroureteronephrosisdiagnosed in utero who postnatally was diagnosed with Prune Belly Syndrome,tracheo-esophageal fistula, and urethral atresia.
CASE REPORT
The patient is a twin female product of a diamniotic, monochorionicgestation. Prenatal ultrasound at nineteen weeks showed marked bladderdistention and bilateral hydroureteronephrosis. Shortly thereafter in utero,the patient underwent weekly bladder drainage, removing over 2000 millilitersover the next thirteen weeks. During this time, a vesico-amniotic shuntwas unsuccessfully placed due to anatomically problems. Amniocentesis priorto delivery showed normal 46 XX chromosomes. The patient was born at 33weeks via spontaneous vaginal delivery to a 24 year old white female withno known medical diseases. Respiratory failure ensued requiring ventilatorysupport. The babyís initial physical examination was significantfor Potterís facies, decreased breath sounds bilaterally, and acontinuous heart murmur. She was also noted to have wrinkled skin overa lax abdominal wall with easily palpable internal organs and large bilateralflank masses. Her genitourinary exam revealed moderate clitoromegaly withscrotal/labial folds but no identifiable urethral meatus or vaginal vestibule.Rectal exam revealed a normal positioned anus with a paucity of tone.
After the placement of a 8 Fr. percutaneous suprapubic tube, a cystogramwas performed which demonstrated a large bladder with severe trabeculation.After instillation of 200 milliliters of cystograffin under gravity, bilateralgrade 5 ureteral reflux was evident by the presence of contrast in therenal pelvis bilaterally(Figure1). Next, abdominal ultrasonography was performed revealing moderatebilateral hydroureteronephrosis, thickened bladder wall, and free intraperitonealfluid. The patientís initial laboratory results revealed a normalserum creatinine of 0.3 gm/dl. Her postnatal course was complicated bythe discovery of free intraabdominal air on day 1 of life. The patientwas taken immediately to the operating room where a gastric perforationwas discovered secondary to a distal tracheo-esophageal fistula with aproximal pouch. No esophageal atresia was present. The esophagus was ligatedand a gastrotomy tube placed.
On day four of life, the patient was noted to have a creatinine of 1.0mg/dl. Urine output during this time was between 1.5-3 ml/kg/hr. Repeatabdominal ultrasonography demonstrated worsening hydroureteronephrosis.The patient was taken to the operating room for an exploratory laparotomyand urinary diversion. The bladder was noted to have two large diverticuliemanating each from the postero-lateral aspect of the bladder with a dilatedurachal remnant. (Figure2) A transverse incision was used to open the bladder which was notedto be severely thickened and trabeculated. The right ureteral orifice wasseen draining into the right diverticulum while the left ureteral orificewas identified just anterior to the left diverticulum. Bilateral diverticulectomieswere performed. The right ureter was reimplanted without a tunnel and anexternalized stent was placed. Since the left ureter was not involved inthe left diverticulum it was not reimplanted. Inspection of the bladderneck showed an abnormal trigone with laterally displaced ureteral orificesbilaterally and a hypoplastic bladder neck. No discreet urethra was notedand a feeding tube could not be passed into the urethra via a antegradefashion. Next the urachus was excised. The bladder defectswere closed in one layer with absorbable suture. The bladder specimen wasthen sent to pathology for a histology review(Figure3). A structure adherent to the posterior aspect of the bladder wasidentified as the uterus with an atretic vaginal canal and no obvious vaginalorifice. A right fallopian tube and ovary were identified but no left fallopiantube or gonad was found. A cutaneous vesicostomy was created for maximalbladder drainage.
Postoperatively, the patientís creatinine stabilized at 0.6 mg/dlby day 19 of life. Ultrasonography at this time demonstrated stable hydronephrosisbilaterally. The patient did well in the immediate postoperative periodwith mechanical ventilation and enteral feeds. However, she was unableto be weaned from the ventilatory over the ensuing months. Six months laterthe patient expired from overwhelming sepsis secondary to hospital acquiredpneumonia.
DISCUSSION
The Prune Belly Syndrome in females is a rarer occurrence than in maleswith an observed prevalence in males of 5/100,000 versus 1/100,000 in females.By definition this syndrome is only completely expressed in males(presenceof cryptorchidism mandatory), however, three percent of the reported casesoccur in genetic females and is generally known as Pseudo-Prune Belly Syndrome(PPBS).4,5 Our patient was found to have the typical phenotypeof PPBS, lax abdominal musculature, large distended bladder, and urethralatresia as well as an unilateral absent ovarian structure, absent leftfallopian tube and atretic vagina. These anomalies are consistent withother reported cases of PPBS in which vaginal atresia, bicornuate uterus,urethral atresia, and hydronephrosis are commonly noted.6
A detailed search of the literature revealed no reported associationbetween the PPBS and tracheo-esophageal fistula. It is interesting to notethat both PPBS and tracheo-esophageal fistula in associated with VATERsyndrome are described with the same type of urinary tract anomaly, hydroureteronephrosis.Lloyd et. al did speculate that tracheo-esophageal in association withVATER syndrome is due to a teratogenic insult between 32-49 days of gestation,a similar time period for the development of PPBS after exposure to anunidentified teratogen.8 This would argue for the possibilityof an insult occurring during development that resulted in the concomitantdefects seen in this patient. However, our patient did not have any othercharacteristics of VATER syndrome. The distal tracheo-esophageal fistulawith a proximal pouch is the most common type of tracheo-esophageal. Itis suspected that the gastric perforation was the result of barotraumafrom the mechanical ventilation.
Reinberg reported the only other case of Prune Belly Syndrome, VATERsyndrome, and urethral atresia in a stillborn and stated that the urethralatresia without a patent urachus or vesicocutaneous fistula is a universallylethal anomaly.3 However, our patient had no patent urachusor vesicocutaneous fistula. She did, however, receive weekly ultrasoundguided needle drainage of her bladder after 19 weeks of gestation. Fluidfrom the bladder drainage was not sent for analysis. The bladder drainageperformed in utero to relieve the obstructive process affecting the urinarytract may have improved the neonatal outcome by reducing the intra-abdominalpressure and volume and thus avoiding pulmonary maldevelopment. The effectof this bladder drainage on the ultimate renal function is less clear.
The vesico-amniotic shunt was inserted and its correct position confirmedby ultrasonography. However possible due to the twin pregnancy and monochorionicgestation, the vesico-amniotic shunt was noted to have migrated 1 weekafter its placement. This is consistent with previous reports which statethat approximately one third of shunts placed will migrate and become non-functional.As for the pre-term labor, it can not be ruled out that it was not dueto the multiple percutaneous bladder drainage procedure. However grossand microscopic inspection of the placenta after birth did not reveal anyevidence of chorioamnionitis.
Postnatally, the patient creatinine of 0.3 mg/dl reflected the motherísability to filter toxins while the patient was in utero. However by day4 of life, it was evident that the patientís hydroureteronephrosishad worsen as was evident by ultrasonography and a rising creatinine of1.0 mg/dl. After maximal urinary drainage was provided via a cutaneousvesicostomy, the patientís creatinine returned to 0.6 mg/dl. Duckettstated if the nadir creatinine level is less than 0.8 mg/dl, the patientíschance of developing renal failure is dramatically less.9 Postoperativeultrasonography demonstrated stable bilateral hydronephrosis.
Pediatric urologists and pediatricians should be aware of the potentialfor other anomalies when confronting a newborn with Prune Belly Syndrome.
REFERENCES
1. Woodhouse, C.R., Ransley, P.G., Innes-Williams, D.: Prune Belly Syndrome--Reportof 47 Cases. Archives of Disease in Childhood, 57 (11): 856-859, 1982.
2. Coran, A.G., Oldham, K.T.: The Pediatric Thorax. In Greenfield, L.J.,Mulholland, M.W., Oldham, K.T., and Zelenock, G.B. Surgery Scientific Principlesand Practices. J.B. Lippincott Company, 1993, pp.1806-1831.
3. Reinberg, Y., Chelimsky, G., and Gonzalez, R.: Urethral Atresia andthe Prune Belly Syndrome. Report of Six Cases. British Journal of Urology,72 (1): 112-114, 1993.
4. Donnelly, L.F., Johnson, J.F.: Unilateral Abdominal Wall Hypoplasia:Radiographic Findings in Two Infant Girls. Pediatric Radiology, 25 (4):278-281, 1995.
5. Druschel, C.M.: A Descriptive Study of Prune Belly Syndrome in NewYork State, 1983-1989. Archives of Pediatric Adolescent Medicine, 149:70-76, 1995.
6. Reinberg, Y., Shapiro, E., Manivel, C.J., Manley, C.B., Pettinato,G., and Gonzalez, R.: Prune Belly Syndrome in Females: A Triad of AbdominalMuscular Defiency and anomalies of the Urinary and Genital Systems. TheJournal of Pediatrics, 118 (3): 395-398, 1991.
7. Sutherland, R.S., Mevorach, R.A., and Kogan, B.A.: The Prune BellySyndrome: Current Insights. Pediatric Nephrology, 9: 770-778, 1995.
8. Lloyd, D.J., Mckenzie, J., Kaye,H.H., and Russell, G.: VATER Syndrome:Hypothesis and Report of Two Further Cases. Teratology, 15: 43-46, 1976.
9. Coplen, D.E., Snow, B.W., Duckett, J.W.: Prune Belly syndrome. InGillenwater, J.Y., Grayhack, J.T., Howards, S.S., Duckett, J.W. Adult andPediatric Urology, ed 3. St. Louis, Mosby, 1996 , pp2297-2316.
