- Email: [email protected]
Incomplete Exstrophy of the Cloaca
THE JOURNAL OF UROLOGY
VoL 91, No. 5 May 1964 Copyright © 1964 by The Williams & Wilkins Co. Printed in U.S.A.
INCOl\IPLETE EXSTROPHY OF THE CLOACA JENS G. ROSENKRANTZ, W. CARL BAILEY
AND
KENNETH W. DUMARS, JR.
From the Departments of Surgery and Pediatrics, University of Colorado ivledical Center, Denver, Colorado
Exstrophy of the cloaca is a well-recognized anomaly, wherein the bladder is exstrophied and communicates with the ileocecal portion of the intestine. The bowel itself is malformed with a bizarre blind-ending colon distal to the ileovesical fistula. The anorectal portion of the gut is atretic or missing entirely. Other anomalies are usually found in these patients, chiefly omphalocele, rneningocele, failure of fusion of the m(tllerian ducts in the female patient and of the phallus in both sexes as well as anomalies of the bony foot or ankle, and abnormalities of the kidneys and ureters. A single umbilical artery is a common finding. The case to be presented shows the anomalies typical of exstrophy of the cloaca, except that th,• patient bad an incon1plete exstrophy of the bladder. This case is reported because of the extreme rarity of this variation and to call attention to the possibility that on initial exami·nation this entity may be mistaken for the more common imperforate anus with rectourinary fistula. CASE REPORT
A 2320 gm. white boy was transferred to this hospital when he was 2 days old because of an imperforate anus and increasing jaundice. He was born at 36 weeks' gestation, the pregnancy having been uneventful, except for the fact that at about 12 weeks' gestation the mother took 4 tablets of gestest. * At birth, it was noted that the baby had an imperforate anus and constant dribbling of urine from a hypoplastic penis. From the same orifice meconium was intermittently discharged. There was a lurn.bosacral meningocele 4 cm. in diameter, a dislocated left hip and a right metatarsus varus deformity. The infant was fed without evidence of intestinal obstruction, but was transferred to the Colorado General Hospital because of the aforementioned anomaAccepted for publication X ovember 8, 1963. * Gestest (Squibb) contains 2.5 mg. norethindrone acetate and 0.05 mg. ethinyl estradiol per tablet.
549
<•,:_,., __ · ,_-·- ___ ,. ·.
lies: increasing jaundice, and irritability, with episodic tremors of the hands. The baby was active, irritable, jaundiced, and had peripheral cyanosis. Both kidneys were enlarged. The lower abdomen was foreshortened and the pubes were widely separated, with marked diastasis of the lower rectus muscles. The bladder could be palpated in the lower abdomen and urine and meconium could be expressed from beneath the short phallus, which showed balanitic hypospadias. The scrotum. was normally formed; a right gonad was palpable and the left side of the scrotum was empty. The umbilicus contained one vein and one (left) artery. There was no omphalocele. The anus was imperforate, with only a dimple at the anal area and a poorly developed gluteal crease (fig. 1). The buccal smear was chromatin negative; and chromosomal karotype revealed the normal diploid number of 23 pairs with an XY sex chromosome pattern. Because of the similarity of this picture to exstrophy of the cloaca (lacking only the complete exstrophy of the bladder), an excretory urogram and cystogram were made. The kidneys were faintly outlined and hydronephrotic. Dye injected into the bladder filled the bladder and thence flowed into a large saccular structure in the right abdomen; from here dye flowed into the ileum (fig. 2). The diagnosis of incomplete exstrophy of the cloaca having been confirmed, the baby was prepared for surgery. However, his condition deteriorated rapidly and on the day following admission he suffered a period of cardio-respiratory arrest, was resuscitated, but died 12 hours later. Postmortem examination showed bilateral pulmonary congestion and hemorrhage and se-vere intracranial hemorrhage. The bladder lay under normal skin and subcutaneous tissue and its anterior wall appeared grossly and microscopically normal (fig. 3). The bladder neck and proximal centimeter of the urethra were normal. The right testis was normal; the left testis was histologically normal,
550
ROSENKRANTZ, BAILEY AND DUMARS, JR.
FIG. l. A, lower abdomen. Note short distance between umbilical stump and penis (retracted under skin). B, lower abdomen and perineum. Note meningocele.
FIG. 2. Cystogram. A, bladder. B, "colon". C,
ileum.
but located in the properitoneal tissues at the left pelvic brim. The left ureter bulged into the bladder as a ureterocele, with an area of atresia about 1 cm. above the ureterovesical orifice. It was dilated and contained cloudy urine, the kidney being hydronephrotic. The right ureter and renal pelvis were duplicated, with hydrone-
phrosis and hydrometer of the lower pole system, due to atresia of the distal ureter. This ureter also bulged into the bladder as a ureterocele. The right upper pole ureter, draining a small portion of the upper pole of the kidney, was of normal caliber and entered the bladder just below and lateral to the lower pole ureter. The stomach and proximal intestine were normal, with no evidence of malrotation. Joining the ileum distally was a saccular structure, 6 cm. in length and 1.5 cm. in diameter, that occupied the right side of the abdomen (fig. 4). Near the junction of the saccular structure with the ileum, there were two slit-like openings in its wall, communicating with the posterior wall of the bladder just below the bladder dome. These 2 openings were separated by a thin band of colonic mucosa. The wall of the saccular structure had the microscopic appearance of normal colon, with an abrupt change to transitional epithelium at the junction of the fistulas with the bladder. There were 2 appendices attached to the proximal end of the saccular structure. The superior mesenteric artery, in a long arch, supplied the entire small bowel and blind-ending sac. There was no inferior mesenteric artery. Venous drainage of this area of the bowel was by means of a normal superior mesenteric vein into a normal portal vein.
551
INCOMPLETE EXSTROPHY OF CLOACA
"COLON" ---
/
"APPENDICEs"i'--
- -
Fm. 4. Diagram of bladder and distal intestine ' viewed from right side.
Fm. 3. Autopsy view of lower abdomen with bladder opened. A, probe in urethra. B, right ureterocele. Note lack of symphysis pubis, with anterior bladder wall lying directly under subcutaneous tissue. DISCUSSION
Among patients with exstrophy of the bladder there seems to be a spectrum of severity of involvement. At one extreme, a patient may have the entire bladder presenting on the abdominal surface in association with epispadias. This is the most common type. Patients have been described with fully exstrophied bladder, but without epispadias.1· 2 Incomplete exstrophy of the bladder with openings involving only part of the anterior bladder wall is not uncommon. There have been 1 Coates, W. H.: Case of a remarkable conformation of the urinary and genital organs in a female child. Edinburgh Med. Surg. J., 1: 39, 1805. 2 Higgins, C. C.: Transplantation of the ureters into the rectosigmoid for exstrophy of the bladder: Review of 41 cases. J. Urol., 57: 693, 1947. 3MacKenzie, L. L.: Split pelvis in pregnancy. Amer. J. Obstet. Gynec., 29: 255, 1935. 4 Hejtmancik, J. H., King, W. B. and Magid, M.A.: Pseudo-exstrophy of the bladder. J. Urol., 72: 829, 1954. 5 Kittredge, W. E. and Bradburn, C.: Incomplete exstrophy of the bladder: Case report. J. Urol., 72: 38, 1954. 6 Uson, A. C. and Roberts, M. S.: Incomplete exstrophy of the urinary bladder : A report of two cases. J. Urol., 79: 57, 1958.
several descriptions 3-6 of patients with the most minor degree of exstrophy-separation of the pubes, with an intact bladder located immediately under either normal or thinned-out skin and subcutaneous tissue. A similar spectrum appears to exist among patients with exstrophy of the cloaca. Beginning with Littre's description of a case in 1705, there have been many reports of complete exstrophy of the cloaca.1- 12 Russell's13 case demonstrated exstrophy of the cloaca with an opening involving only part of the anterior cloacal wall. Our case, as well as one described by von BerenbergGossler14 and one of Gough's15 cases, may be considered as varieties of exstrophy of the cloaca showing an intact covering over the cloaca. For 7 Littre: Mem. de l'Acad. Roy. des sciences, 4: 9, 1709. Cited by Duncan, A.: In: Edinburgh Med. Surg. J., 1: 43 and 132, 1805.
8 Keith, A.: Malformations of the hind end of the body: III. Ectopia vesicae and allied conditions. Brit. Med. J., 2: 1857, 1908. 9 von Geldern, C. E.: The etiology of cloacal exstrophy and allied malformations. J. Urol., 82:
134, 1959. 10 Kermauner, F.: In: Schwalbe, E.: Die Morphologie der Missbildungen des Menschen und der Tiere, III Teil, I Lieferung, 1. Abteilung. Jena: Gustav Fischer, 1909, pp. 78-85. 11 von Geldern, C. E.: The etiology of exstrophy of the bladder. Arch. Surg., 8: 61, 1924. 12 Swan, H. and Christensen, S. P.: Exstrophy of the cloaca. Pediatrics, 12: 645, 1953. 13 Russell, K. F.: A case of complicated exstrophy of the bladder presenting many unusual features. Brit. J. Urol., 11: 31, 1939. 14 von Berenberg-Gossler, H.: Beitrage zur Entwickelungsgeschichte der Caudalen Darmabschnitte und des Urogenitalsystems des Menschen auf Teratologischer Grundlage. Anat. Hefte, 49:
611, 1913.
15 Gough, M. H.: Anorectal agenesis with persistence of the cloaca. Proc. Roy. Soc. Med., 52: 886, 1959.
552
ROSENKRANTZ, BAILEY AND DUMARS, JR.
these reasons we have named this entity incomplete exstrophy of the cloaca. A number of theories 8 • 9 , 16- 18 have been advanced concerning the abnormal embryologic events which culminate in the formation of exstrophy of the cloaca. A detailed discussion of these theories is beyond the scope of this paper. However, many of the structures involved in this entity (lower abdominal wall, cloacal membrane and adjacent hind-gut, allantois, metanephric diverticula, phallic anlagen, umbilical stalk, and notocord) arise from tissue which originates in a small area just caudal to the primitive streak. An early, well localized injury in this area, could, then, account for such a diversity of anomalies involving the anterior abdominal wall, the bladder and colon, the ureters and mullerian ducts, the phallus, and even the umbilicus and lumbosacral spine. Accurate recognition of the various visceral anomalies in these patients is extremely important. The case of the infant reported here was 16 Hall, E.G., McCandless, A. E. and Rickham, P. P.: Vesico-intestinal fissure with dip hall us. Brit. J. Urol., 25: 219, 1953. 17 Morison, J.E.: Extroversion of the primitive hind gut. Arch. Dis. Child., 15: 105, 1940. 18 Kindred, J. E.: Eventration of the abdominal viscera associated with umbilical hernia, hemipenes and hydromyelomeningocele in a newborn infant. Anat. Rec., 128: 379, 1957.
originally described as one of imperforate anus with rectourinary fistula. Cystography was invaluable in confirming suspicions about the more severe nature of anomalies and defining the abnormal nature of the gastrointestinal tract. As yet, few infants with exstrophy of the cloaca, complete or incomplete, have survived. Although the incidence of major obstructive anomalies of the urinary tract is high, the incidence of life-threatening anomalies involving other organ systems is surprisingly low. If these patients are to survive, it appears that accurate preoperative knowledge of the anatomic aberrations is necessary, coupled with a carefully laid plan of early surgical attack. The surgery would involve division of the intestino-urinary fistula, ileostomy or colostomy as appropriate, and adequate drainage of the frequently obstructed kidneys in as simple and direct a manner as possible. SUMMARY
A case report is presented of a patient who had anomalies typical of exstrophy of the cloaca, but with an incompletely exstrophied bladder. It is postulated that there is a spectrum of degree of exstrophy in this group of anomalies, analogous to that seen in exstrophy of the bladder. Theimportance of accurate preoperative diagnosis of the various anatomic abnormalities is stressed.
VoL 91, No. 5 May 1964 Copyright © 1964 by The Williams & Wilkins Co. Printed in U.S.A.
INCOl\IPLETE EXSTROPHY OF THE CLOACA JENS G. ROSENKRANTZ, W. CARL BAILEY
AND
KENNETH W. DUMARS, JR.
From the Departments of Surgery and Pediatrics, University of Colorado ivledical Center, Denver, Colorado
Exstrophy of the cloaca is a well-recognized anomaly, wherein the bladder is exstrophied and communicates with the ileocecal portion of the intestine. The bowel itself is malformed with a bizarre blind-ending colon distal to the ileovesical fistula. The anorectal portion of the gut is atretic or missing entirely. Other anomalies are usually found in these patients, chiefly omphalocele, rneningocele, failure of fusion of the m(tllerian ducts in the female patient and of the phallus in both sexes as well as anomalies of the bony foot or ankle, and abnormalities of the kidneys and ureters. A single umbilical artery is a common finding. The case to be presented shows the anomalies typical of exstrophy of the cloaca, except that th,• patient bad an incon1plete exstrophy of the bladder. This case is reported because of the extreme rarity of this variation and to call attention to the possibility that on initial exami·nation this entity may be mistaken for the more common imperforate anus with rectourinary fistula. CASE REPORT
A 2320 gm. white boy was transferred to this hospital when he was 2 days old because of an imperforate anus and increasing jaundice. He was born at 36 weeks' gestation, the pregnancy having been uneventful, except for the fact that at about 12 weeks' gestation the mother took 4 tablets of gestest. * At birth, it was noted that the baby had an imperforate anus and constant dribbling of urine from a hypoplastic penis. From the same orifice meconium was intermittently discharged. There was a lurn.bosacral meningocele 4 cm. in diameter, a dislocated left hip and a right metatarsus varus deformity. The infant was fed without evidence of intestinal obstruction, but was transferred to the Colorado General Hospital because of the aforementioned anomaAccepted for publication X ovember 8, 1963. * Gestest (Squibb) contains 2.5 mg. norethindrone acetate and 0.05 mg. ethinyl estradiol per tablet.
549
<•,:_,., __ · ,_-·- ___ ,. ·.
lies: increasing jaundice, and irritability, with episodic tremors of the hands. The baby was active, irritable, jaundiced, and had peripheral cyanosis. Both kidneys were enlarged. The lower abdomen was foreshortened and the pubes were widely separated, with marked diastasis of the lower rectus muscles. The bladder could be palpated in the lower abdomen and urine and meconium could be expressed from beneath the short phallus, which showed balanitic hypospadias. The scrotum. was normally formed; a right gonad was palpable and the left side of the scrotum was empty. The umbilicus contained one vein and one (left) artery. There was no omphalocele. The anus was imperforate, with only a dimple at the anal area and a poorly developed gluteal crease (fig. 1). The buccal smear was chromatin negative; and chromosomal karotype revealed the normal diploid number of 23 pairs with an XY sex chromosome pattern. Because of the similarity of this picture to exstrophy of the cloaca (lacking only the complete exstrophy of the bladder), an excretory urogram and cystogram were made. The kidneys were faintly outlined and hydronephrotic. Dye injected into the bladder filled the bladder and thence flowed into a large saccular structure in the right abdomen; from here dye flowed into the ileum (fig. 2). The diagnosis of incomplete exstrophy of the cloaca having been confirmed, the baby was prepared for surgery. However, his condition deteriorated rapidly and on the day following admission he suffered a period of cardio-respiratory arrest, was resuscitated, but died 12 hours later. Postmortem examination showed bilateral pulmonary congestion and hemorrhage and se-vere intracranial hemorrhage. The bladder lay under normal skin and subcutaneous tissue and its anterior wall appeared grossly and microscopically normal (fig. 3). The bladder neck and proximal centimeter of the urethra were normal. The right testis was normal; the left testis was histologically normal,
550
ROSENKRANTZ, BAILEY AND DUMARS, JR.
FIG. l. A, lower abdomen. Note short distance between umbilical stump and penis (retracted under skin). B, lower abdomen and perineum. Note meningocele.
FIG. 2. Cystogram. A, bladder. B, "colon". C,
ileum.
but located in the properitoneal tissues at the left pelvic brim. The left ureter bulged into the bladder as a ureterocele, with an area of atresia about 1 cm. above the ureterovesical orifice. It was dilated and contained cloudy urine, the kidney being hydronephrotic. The right ureter and renal pelvis were duplicated, with hydrone-
phrosis and hydrometer of the lower pole system, due to atresia of the distal ureter. This ureter also bulged into the bladder as a ureterocele. The right upper pole ureter, draining a small portion of the upper pole of the kidney, was of normal caliber and entered the bladder just below and lateral to the lower pole ureter. The stomach and proximal intestine were normal, with no evidence of malrotation. Joining the ileum distally was a saccular structure, 6 cm. in length and 1.5 cm. in diameter, that occupied the right side of the abdomen (fig. 4). Near the junction of the saccular structure with the ileum, there were two slit-like openings in its wall, communicating with the posterior wall of the bladder just below the bladder dome. These 2 openings were separated by a thin band of colonic mucosa. The wall of the saccular structure had the microscopic appearance of normal colon, with an abrupt change to transitional epithelium at the junction of the fistulas with the bladder. There were 2 appendices attached to the proximal end of the saccular structure. The superior mesenteric artery, in a long arch, supplied the entire small bowel and blind-ending sac. There was no inferior mesenteric artery. Venous drainage of this area of the bowel was by means of a normal superior mesenteric vein into a normal portal vein.
551
INCOMPLETE EXSTROPHY OF CLOACA
"COLON" ---
/
"APPENDICEs"i'--
- -
Fm. 4. Diagram of bladder and distal intestine ' viewed from right side.
Fm. 3. Autopsy view of lower abdomen with bladder opened. A, probe in urethra. B, right ureterocele. Note lack of symphysis pubis, with anterior bladder wall lying directly under subcutaneous tissue. DISCUSSION
Among patients with exstrophy of the bladder there seems to be a spectrum of severity of involvement. At one extreme, a patient may have the entire bladder presenting on the abdominal surface in association with epispadias. This is the most common type. Patients have been described with fully exstrophied bladder, but without epispadias.1· 2 Incomplete exstrophy of the bladder with openings involving only part of the anterior bladder wall is not uncommon. There have been 1 Coates, W. H.: Case of a remarkable conformation of the urinary and genital organs in a female child. Edinburgh Med. Surg. J., 1: 39, 1805. 2 Higgins, C. C.: Transplantation of the ureters into the rectosigmoid for exstrophy of the bladder: Review of 41 cases. J. Urol., 57: 693, 1947. 3MacKenzie, L. L.: Split pelvis in pregnancy. Amer. J. Obstet. Gynec., 29: 255, 1935. 4 Hejtmancik, J. H., King, W. B. and Magid, M.A.: Pseudo-exstrophy of the bladder. J. Urol., 72: 829, 1954. 5 Kittredge, W. E. and Bradburn, C.: Incomplete exstrophy of the bladder: Case report. J. Urol., 72: 38, 1954. 6 Uson, A. C. and Roberts, M. S.: Incomplete exstrophy of the urinary bladder : A report of two cases. J. Urol., 79: 57, 1958.
several descriptions 3-6 of patients with the most minor degree of exstrophy-separation of the pubes, with an intact bladder located immediately under either normal or thinned-out skin and subcutaneous tissue. A similar spectrum appears to exist among patients with exstrophy of the cloaca. Beginning with Littre's description of a case in 1705, there have been many reports of complete exstrophy of the cloaca.1- 12 Russell's13 case demonstrated exstrophy of the cloaca with an opening involving only part of the anterior cloacal wall. Our case, as well as one described by von BerenbergGossler14 and one of Gough's15 cases, may be considered as varieties of exstrophy of the cloaca showing an intact covering over the cloaca. For 7 Littre: Mem. de l'Acad. Roy. des sciences, 4: 9, 1709. Cited by Duncan, A.: In: Edinburgh Med. Surg. J., 1: 43 and 132, 1805.
8 Keith, A.: Malformations of the hind end of the body: III. Ectopia vesicae and allied conditions. Brit. Med. J., 2: 1857, 1908. 9 von Geldern, C. E.: The etiology of cloacal exstrophy and allied malformations. J. Urol., 82:
134, 1959. 10 Kermauner, F.: In: Schwalbe, E.: Die Morphologie der Missbildungen des Menschen und der Tiere, III Teil, I Lieferung, 1. Abteilung. Jena: Gustav Fischer, 1909, pp. 78-85. 11 von Geldern, C. E.: The etiology of exstrophy of the bladder. Arch. Surg., 8: 61, 1924. 12 Swan, H. and Christensen, S. P.: Exstrophy of the cloaca. Pediatrics, 12: 645, 1953. 13 Russell, K. F.: A case of complicated exstrophy of the bladder presenting many unusual features. Brit. J. Urol., 11: 31, 1939. 14 von Berenberg-Gossler, H.: Beitrage zur Entwickelungsgeschichte der Caudalen Darmabschnitte und des Urogenitalsystems des Menschen auf Teratologischer Grundlage. Anat. Hefte, 49:
611, 1913.
15 Gough, M. H.: Anorectal agenesis with persistence of the cloaca. Proc. Roy. Soc. Med., 52: 886, 1959.
552
ROSENKRANTZ, BAILEY AND DUMARS, JR.
these reasons we have named this entity incomplete exstrophy of the cloaca. A number of theories 8 • 9 , 16- 18 have been advanced concerning the abnormal embryologic events which culminate in the formation of exstrophy of the cloaca. A detailed discussion of these theories is beyond the scope of this paper. However, many of the structures involved in this entity (lower abdominal wall, cloacal membrane and adjacent hind-gut, allantois, metanephric diverticula, phallic anlagen, umbilical stalk, and notocord) arise from tissue which originates in a small area just caudal to the primitive streak. An early, well localized injury in this area, could, then, account for such a diversity of anomalies involving the anterior abdominal wall, the bladder and colon, the ureters and mullerian ducts, the phallus, and even the umbilicus and lumbosacral spine. Accurate recognition of the various visceral anomalies in these patients is extremely important. The case of the infant reported here was 16 Hall, E.G., McCandless, A. E. and Rickham, P. P.: Vesico-intestinal fissure with dip hall us. Brit. J. Urol., 25: 219, 1953. 17 Morison, J.E.: Extroversion of the primitive hind gut. Arch. Dis. Child., 15: 105, 1940. 18 Kindred, J. E.: Eventration of the abdominal viscera associated with umbilical hernia, hemipenes and hydromyelomeningocele in a newborn infant. Anat. Rec., 128: 379, 1957.
originally described as one of imperforate anus with rectourinary fistula. Cystography was invaluable in confirming suspicions about the more severe nature of anomalies and defining the abnormal nature of the gastrointestinal tract. As yet, few infants with exstrophy of the cloaca, complete or incomplete, have survived. Although the incidence of major obstructive anomalies of the urinary tract is high, the incidence of life-threatening anomalies involving other organ systems is surprisingly low. If these patients are to survive, it appears that accurate preoperative knowledge of the anatomic aberrations is necessary, coupled with a carefully laid plan of early surgical attack. The surgery would involve division of the intestino-urinary fistula, ileostomy or colostomy as appropriate, and adequate drainage of the frequently obstructed kidneys in as simple and direct a manner as possible. SUMMARY
A case report is presented of a patient who had anomalies typical of exstrophy of the cloaca, but with an incompletely exstrophied bladder. It is postulated that there is a spectrum of degree of exstrophy in this group of anomalies, analogous to that seen in exstrophy of the bladder. Theimportance of accurate preoperative diagnosis of the various anatomic abnormalities is stressed.