Prune Belly Syndrome Associated With Exomphalos and Anorectal Agenesis

By Jenny Walker, A.I. Prokurat, and Irene M. Irving

Liverpool, England

�9 We have recently treated a child with prune belly syndrome in association with exomphalos and anorectal agenesis. This case raises the total incidence of exompha- los and anorectal agenesis to four and five. respectively, in our series of 13 cases of prune belly syndrome, Our case report lays emphasis on the severe respiratory problems that can complicate surgery in prune belly patients, W e also attempt to relate the pattern of anomalies in our series to the controversy surrounding the embryogenesis of prune belly syndrome and suggest that our case material lends support to the concept of prune belly syndrome being due to an early disturbance of mesodermal development in both the abdominal wall and the urinary tract, W e also suggest that the reported occurrence of gastroschisis in association with prune belly syndrome adds weight to the unifying theory of the embryogenesis of gastroschisis and exomphalos. �9 1987 by Grune & Stratton. Inc.

INDEX WORDS: Prune belly syndrome; anorectal agenesis; exomphalos.

p RUNE BELLY S Y N D R O M E (PBS) is a well- documented triad of abdominal wall deficiency,

urinary tract anomalies, and cryptorchidism. The com- plete triad can, by definition, occur only in males but the abdominal wall defect does occur occasionally in females, with or without the typical urinary tract anomalies. Other congenital anomalies are associated with PBS, particularly musculoskeletal deformities. Most series also include some gastrointestinal tract anomalies, of which errors of fixation and rotation are the most common) -3 Anorectal agenesis has not often been reported in association with PBS although some cases are on record. 3-7 Exomphalos and gastroschisis are likewise not regarded as being commonly asso- ciated with PBS, but the former has been reported in two children with PBS and imperforate anus 4"8 while gastroschisis with PBS has been reported in two c a s e s . 9,10

During the last 33 years, 13 cases of PBS have been treated at Alder Hey Children's Hospital, Liverpool. Four of these children had exomphalos and five had anorectal agenesis. In this report we present the most recent of these cases, and we discuss the possible embryological implications of the associated malfor- mations encountered in our series.

CASE REPORT

A 38-week-gestation male infant was delivered by cesarean sec- tion for fetal distress. His mother had had ruptured membranes for over 36 hours before delivery. At birth he had respiratory distress

and was found to have a large exomphalos, grossly deficient abdomi- nal musculature, undescended testes, and anorectal agenesis. The exomphalos, which contained small intestine, colon, and liver, had a ruptured sac (Fig 1). The remnants of the sac contained purulent fluid, culture of which subsequently yielded r streptococ- cus, as did the mother's amniotic fluid. At laparotomy a few hours after birth, he was found to have a huge floppy bladder and a solitary left kidney with a tortuous ureter. A divided sigmoid colostomy was performed and the exomphalos was repaired. The lax musculature facilitated closure of the wide abdominal wall defect. Urethral catheterization was very difficult but eventually a 3.5 French feeding tube was passed and this provided satisfactory bladder drainage. Intravenous cefuroxime and metronidazole were given intraoperatively and postoperatively. Postoperatively, he required full ventilation and intravenous feeding.

From day 3 he was progressively weaned from the ventilator, and on day 6 he was extubated but developed severe respiratory distress and required reintubation and full ventilation. Weaning from the ventilator was restarted but on day 13, when he had been on continuous positive airway pressure (CPAP) for 24 hours, his condition deteriorated rapidly and septic screening revealed a uri- nary tract infection due to Pseudomonas and gross candidiasis. Full ventilation was recommenced and intravenous ceftazidine, ampho- tericin, and 5-flucytosine were commenced. When his sepsis was under control he was again weaned on to CPAP, but even short periods without CPAP could not be tolerated, and it was not until day 32 that he was finally extubated. During this period, cardiopul- monary abnormalities were excluded and screening of his dia- phragms showed them to be flat but to move normally. The conclusion was reached that his dependence on the ventilator had been due to his inability to cough effectively.

By the time he was extubated he had progressed from parenteral feeding to nasogastric feeds and by day 36 was able to tolerate full oral feeds. There were no problems with his colostomy. During one episode of catheter obstruction, urine drained from the colonic mucous fistula, indicating the presence of a rectourinary fistula.

Absence of the right kidney was confirmed by ultrasound exami- nation and by DMSA scan. Intravenous urography showed a hyper- trophied hydronephrotic left kidney with a dilated ureter. A cysto- urethrogram showed a large irregular bladder with a stenosed posterior urethra. There was gross reflux into a duplex left collecting system. When he was 8 weeks old a vesicostomy was performed. At the same time, an attempt was made to find his testes in order to ligate the testicular arteries for facilitation of future orchidopexy, but it was impossible to locate them because of dense peritoneal adhesions. Postoperatively, the vesicostomy drained satisfactorily and he was discharged home at the age of 10 weeks on prophylactic

From the Department of Paediatric Surgery, University of Liv- erpool, Alder Hey Children's Hospital, Liverpool, England.

Presented at the 33rd Annual Congress of the British Association of Paediatric Surgeons, Birmingham, England, July 16-18, 1986.

Address reprint requests to Jenny Walker, FRCS, Department of Paediatric Surgery, Alder Hey Children's Hospital, Liverpool L12 2AP England.

�9 1987 by Grune & Stratton, Inc. 0022-3468/87/2203-0008503.00/0

Journal of Pediatric Surgery, Vol 22, No 3 (March), 1987: pp 215-217 215

216 WALKER, PROKURAT, AND IRVING

Fig 1. Appearance of abdomen immediately before operation demonstrating that the umbilical vein and the single umbilical artery were splayed out in the remnant of the amniotic sac, which had ruptured revealing liver and bowel, The wrinkled abdominal skin and flared costal margin are evident.

co-trimoxazole in view of the vesicoureteric reflux. At that time he was in good health, smiling, and showing evidence of normal mental development. He is now aged 9 months and is well and developing normally (Fig 2).

DISCUSSION

In the case reported here, it was initially impossible to wean the baby from the ventilator because of his inability to cough effectively, which resulted in a rapid accumulation of secretions, and three of our earlier patients died as a result of postoperative respiratory problems. The susceptibility of PBS patients to respi- ratory infections is well recognized and is attributed not only to the laxity of the abdominal muscles but also to the commonly associated chest deformities and to inefficiency of the flattened diaphragm. Two authors x1'12 have emphasized the particular problems encountered during and after general anesthesia in these children, and our own experience serves to emphasize the importance of this aspect of the man- agement of PBS.

In Table 1 we list the anomalies encountered in our series of 13 cases of PBS. The high incidence of genitourinary anomalies is as anticipated, but the incidence of exomphalos and of anorectal agenesis is higher than in other reported series.

Several theories have been advanced to explain the embryogenesis of PBS. One suggestion is that the primary problem is obstruction to urinary outflow in utero, resulting in gross urinary tract dilatation, which causes atrophy of the abdominal wall musculature and impedes testicular descent. A second theory is that the primary defect is in the abdominal wall musculature and that its weakness impairs normal micturition, leading to urinary tract dilatation. However, the typi-

Fig 2. Appearance at age 9 months. The furrowing of the abdominal wall is accentuated because of the fixation by operative scarring. The colonic mucous fistula (left lower quadrant) has almost closed. The apparent umbilicus is the vesicostomy. The knee dimples typical of PBS can be seen.

cal prune belly abdominal wall can occur in the absence of any urinary tract dilatation and, conversely, infants with severe congenital urinary tract dilatation usually have a normally muscularized abdominal wall.

A more tenable theory is that the muscular defi- ciency of both the abdominal wall and urinary tract results from an early disturbance of embryogenesis. The timing of the postulated teratogenic insult is open to debate but Ives 5 presents a good case for the basic defect being a disturbance of mesodermal development in the third week of gestation, which would account for all three parts of the triad. The coexistence of anorectal agenesis in a high proportion of our cases lends weight to this concept of an early error of embryogenesis. It is

PRUNE BELLY, EXOMPHALOS, AND IMPERFORATE ANUS 217

Table 1, Associated Congenital Malformations in 13 Cases of PBS Treated at Alder Hey Children's Hospital, 1953 to 1985

Deficient Abdominal Undescended Hydro- Mega- Gastrointestinal Umbilical Musculoskeletal

Sex Musculature Testes Megacystis nephrosis ureter Urethra Anomalies Anomalies Anomalies

1 M + + + t + Anorectal agenesis with Exomphalos Funnel chest rectovesical fistula, primitive rnesentery

2 M + -t- + + + Primitive mesentery Exomphalos 3 M + + + + + Megalourethra Esophageal atresia with

with penile TOF, anorectal agene- fistula sis with rectourethral

fistula

4 M + + + Left-sided liver Exomphalos 5 M + + + + Anorectal agensis with

rectourinary fistula

6 M + + + + Valves

7 M + + + + +

8 M + + + + Megalourethra 9F + + +

1 0 M + + + + 11 M + + + + Diverticulum

12F + +

Anorectal agenesis with rectovesical fistula,

primitive mesentery

13 M* -t- + + + + Stenosed Anorectal agenesis with Exomphalos

posterior reetourinary fistula urethra

CTEV, flared cos- tal margin

Flared costal margin

Sacral agenesis, CTEV, sepa-

rated pubes

CTEV CTEV, scoliosis,

chest defor- mity

Flared costal margin

*Patient in this case report.

ra ise had superior bladder exstrophy. Abbreviation: CTEV, congenital talipes equinovarus.

also reasonable to suggest that a coexistent exompha- los could result from a concomitant failure of the formation of the umbilical ring in early gestation.

Although all the umbilical anomalies in our series were cases of exomphalos, there are two recent well- documented cases of gastroschisis associated with

PBS. 9'1~ The latter association runs counter to the usual finding that gastroschisis is not associated with the syndromes with which exomphalos tends to be associated, 13 and this adds some weight to the unifying theory of the embryogenesis of gastroschisis and exom- phalos. 14,~5

R E F E R E N C E S

1. Eagle JF, Barrett GS: Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syn- drome. Pediatrics 6:721-736, 1950

2. Silverman FN, Huang N: Congenital absence of the abdomi- nal muscles. Am J Dis Child 80:91-124, 1950

3. Metrick S, Brown RH, Rosenblum A: Congenital absence of the abdominal musculature and associated anomalies. Pediatrics 19:1043-1052, 1957

4. Cremin B J: The urinary tract anomalies associated with agenesis of the abdominal walls. Br J Radiol 44:767-772, 1971

5. Ives E J: The abdominal muscle deficiency triad syndrome: Experience with ten cases. Birth Defects 10:127-135, 1974

6. Welch K J: Abdominal musculature deficiency syndrome (prune belly), in Ravitch MM, et al (eds): Pediatric Surgery. Chicago, Year Book Medical, 1979, pp 1220-1232

7. Morgan CL, Grossman H, Novak R: Imperforate anus and colon calcification in association with the prune belly syndrome. Pediatr Radiol 7:19-21, 1978

8. Petersen DS, Fish L, Cass AS: Twins with congenital defi- ciency of abdominal musculature. J Urol 107:670-672, 1972

9. Willert C, Cohen H, Yu Y-MT, et al: Association of prune belly syndrome and gastroschisis. Am J Dis Child 132:526-527, 1978

10. Short KL, Groff DB, Cook L: The concomitant presence of gastroschisis and prune belly syndrome in a twin. J Pediatr Surg 20:186-187, 1985

11. Hannington-Kiff JG: Prune-belly syndrome and general an- aesthaesia. Br J Anaesth 42:649-651, 1970

12. Karamanian A, Kravath R, Nagashima H, et al: Anaesthetic management of "prune belly" syndrome. Br J Anaesth 46:897-899, 1974

13. Moore TC: Gastroschisis and omphalocele: Clinical dif- fernces. Surgery 82:561-568, 1977

14. Shaw A: The myth of gastroschisis. J Pediatr Surg 10:235- 244, 1975

15. Glick PL, Harrison MR, Adzick NS, et al: The missing link in the pathogenesis of gastroschisis. J Pediatr Surg 20:406-409, 1985