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An 18-Year-Old Woman Born with Cloacal Exstrophy
0022-534 7/86/1354-0762$02.00/0 Vol. 135, April
THE JOURNAL OF UROLOGY
Copyright © 1986 by The Williams & Wilkins Co.
Printed in U.S.A.
Clinicopathological Conference AN 18-YEAR-OLD WOMAN BORN WITH CLOACAL EXSTROPHY SHARRON MEE, HEDVIG HRICAK, BARRY A. KOGAN*
AND
JOHN J. MOLNAR
From the Departments of Urology, Radiology and Pathology, University of California School of Medicine, San Francisco, California
creatinine 0.8 mg./dl. and carbon dioxide 27 mEq./1. The catheterized conduit residual volume was 30 ml. and urine culture yielded more than 100,000 colonies per ml. of mixed gramnegative rods. The pyelonephritis resolved with a short course of intravenous antibiotics and removal of the abdominal binder. Heal loopography, ultrasonography and magnetic resonance imaging of the pelvis were performed.
PRESENTATION OF CASEt
Dr. S. Mee. An 18-year-old woman was hospitalized for pyelonephritis. She had been born with cloacal exstrophy, sacral anomalies, a normal left kidney and a right pelvic kidney. Cystectomy and placement of an ileal conduit had been performed when she was 2 years old. During the procedure the patient was noted to have normal ovaries and fallopian tubes, as well as a right uterus and vaginal opening below the right ureteral orifice. A small uterus was seen on the left side but no ipsilateral vagina was visualized. The congenital sacral anomalies were investigated when the patient was 13 years old because of numbness in the left buttock and weakness in the right leg. Myelography demonstrated hydromyelia of the entire cord, and a lipoma and meningocele of the lumbosacral area with spinal cord tethering. The lipomeningocele was excised, the cord was freed and the hydromyelia was treated with a silicone shunt to the subarachnoid space, resulting in stabilization of the neurological deficits. The patient progressed normally without subsequent genitourinary problems. Menarche began when she was 13 years old, with normal monthly cycles characterized by moderate uterine cramping. When the patient was 15 years old the serum creatinine was 0.8 mg./dl. and excretory urography showed mild hydroureteronephrosis consistent with chronic placement of an ileal conduit. Three days before the current presentation with pyelonephritis the patient had undergone removal of a superficial lipoma overlying the spine. A circumferential abdominal binder had been used to compress the surgical site on the back, and this had obstructed the ileal conduit. The patient presented with a temperature of 39.4C, pelvic pain, and numerous white blood cells and bacteria in the urine. On examination the patient appeared moderately ill. The lungs and heart were normal, and there was normal breast development. Abdominal examination revealed a well healed midline scar, a right lower quadrant ileostomy and a left lower quadrant stoma from the ileal conduit. The left lower quadrant was tender to palpation, with some increased fullness. There was a clean, healing midline incision over the lumbar vertebrae. Perineal examination revealed a bifid clitoris and several small openings without an obvious vaginal vestibule. Neurologically, there was a mild decrease in the reflexes, sensation and motor function of the lower extremities, and she walked with an obvious foot drop. The hematocrit was 33 per cent, white cell count 11,800/ mm. 3 with 48 per cent neutrophils and 23 per cent bands, serum
* Requests for reprints: Department of Urology, U-518 University of California, San Francisco, California 94143. ' t Case presented at Urology Department Grand Rounds University of California, San Francisco, July 13, 1985. '
RADIOGRAPHIC FINDINGS
Dr. H. Hricak. The ileal loopogram showed free reflux into the markedly dilated right ureter and collecting system of the right pelvic kidney. Reflux into the hydronephrotic left collecting system was slightly delayed. There was poor drainage of the collecting systems of both kidneys (fig. 1). A soft tissue mass medial to the conduit suggested extrinsic conduit compression. Ultrasound (performed with a high resolution, electronically focused, linear array, real-time system with a 3.5 MHz. transducer) revealed marked hydronephrosis of the right pelvic kidney. To a lesser degree there was pelviocaliectasis of the left kidney. A large mass was evident medial to the pelvic kidney (fig. 2). The mass was well encapsulated, had uniformly distributed medium level echoes and exhibited no through transmission. The mass was considered solid, most probably ovarian in origin. Magnetic resonance imaging was performed with a Diasonics MT/S system with a 0.5 tesla cryogenic magnet operating at 0.35 tesla (proton resonance frequency 15 MHz.). Direct sagittal, coronal and transaxial sections through the pelvis were imaged with the spin-echo technique, and repetition times of 2.0, 1.5 and 0.5 seconds. The echo delay times used were 28 and 56 msec. In the transaxial mode a multiple echo was performed with repetition times of 28 to 140 msec. Imaging sections were 7 mm. thick with a 3 mm. gap between sections. The right pelvic kidney was identified and moderate pelviocaliectasis, as well as dilatation of the right pelvic ureter to the level of the ileal conduit, was well demonstrated (fig. 3, A). Anterior and to the right of the pelvic kidney there was a normal uterus with good definition of the endometrium and myometrium (fig. 3, B). A normal cervix and continuation to the vagina on the right side were well displayed on coronal and sagittal sections. Medial to the pelvic kidney was a complex midline pelvic mass with 2 large components. The superior component had a high signal intensity regardless of the repetition and echo delay times used (a finding compatible with either a fat-containing tumor or a cyst filled with old blood). The inferior, smaller mass had a magnetic resonance image characteristic of solid tissue. It was not clear whether the pelvic mass represented a single lesion or 2 coincidental masses. In addition, the patient had marked distortion of the lumbosacral spine with associated dysraphism and, in the same location, an associated lipoma to the left of the midline (fig. 3, C).
762
WOMAN BORN WITH CLOACAL EXSTROPHY
763
REVIEW AND DIFFERENTIAL DIAGNOSIS
FIG. 1. Heal loopogram 20 minutes after removal of catheter demonstrates poor drainage from both collecting systems, despite good drainage of distal ilea! conduit.
FIG. 2. Abdominal ultrasound, transverse section, shows large mass (M) with uniform internal echoes. Mass was believed to be solid and is medial to pelvic kidney ( K).
Dr. B. A. Kogan. This young woman had done extremely well after surgical repair of the cloacal exstrophy. She was intelligent, doing well in college and socially well adjusted. She was sexually inactive. Notably, there was no history of urinary or gynecological problems. The episode of pyelonephritis most likely was precipitated by obstruction owing to the abdominal binder placed after the lipectomy. However, there was obvious evidence of earlier obstruction, that is the large conduit residual (measured after the binder was removed), the hydronephrosis on sonography and the loopogram findings. Deterioration of ileal conduits during the long term is well recognized and could explain these findings but the radiographic appearance was atypicaL Furthermore, the close proximity of the pelvic masses suggested compression or invasion of the loop as the most likely cause. The nature of the masses was unclear. Sonography demonstrated a single, solid pelvic mass. However, magnetic resonance imaging clearly delineated 2 separate lesions with apparently different characteristics. That the upper mass was an anterior meningocele or collection of cerebrospinal fluid related to the previous spinal defect and surgery was unlikely on the basis of the operative notes and magnetic resonance imaging, which suggested a high fat content or blood. It could have been a lipoma or, more likely, a remnant of hindgut inadvertently buried within the pelvis during the early reconstruction. This remnant presumably could fill with mucus, and the high fat content in the secretions might have the characteristics seen on magnetic resonance imaging. Also to be considered was the possibility of hematocolpos or hematometrium. The right uterus was well visualized and normal in appearance, although deviated laterally. A small left uterus had been noted at the time of urinary diversion. If this organ was drained by a vagina with an imperforate hymen it might have become distended with blood in postpubertal years. Old blood might have characteristics of the upper lesion on magnetic resonance imaging but the lower lesion would be difficult to explain. Furthermore, the mass was believed to be solid on sonography. The most likely possibility was an ovarian tumor. A teratoma containing numerous different tissue types would be likely in the pelvis and might have widely varying characteristics on magnetic resonance imaging. That it would appear as 2 separate masses is less likely and the preoperative impression was that there were 2 different lesions, perhaps the upper being a hindgut remnant and the lower an ovarian tumor. An exploratory laparotomy was performed for diagnosis and to relieve the obstruction.
FIG. 3. Magnetic resonance imaging. A, coronal image shows right pelvic kidney (K) and ureter (arrow). B, more anterior coronal section clearly demonstrates right corpus uterus (asterisk), cervix (black arrow) and vagina (white arrow), as well as 2 separate masses (Mand U) with different imaging characteristics. C, transverse image at 81 level demonstrates lipoma (L) posteriorly and mass (M) anteriorly. There is no obvious connection.
764
CLINICOPATHOLOGICAL CONFERENCE
with follicular cysts, and multiple tubo-ovarian and parametrial adhesions. DISCUSSION
FIG. 4. Gross specimen shows markedly thickened uterus with remnant of normal vagina on left side. Uterus and fallopian tube (right side) were filled with chocolate brown fluid. OPERATIVE FINDINGS
Doctor Mee. The lower quadrant masses were identified. The lower mass was firm, 5 cm. in diameter, and connected superiorly by an isthmus to an 8 X 6 X 5 cm. cystic mass containing chocolate colored fluid and inferiorly to a normal vagina. The ileal conduit and its mesentery were compressed over and adherent to the superior mass. Both masses were resected en bloc and the ileal conduit was revised. PATHOLOGICAL FINDINGS
Dr. J. J. Molnar. The lower mass was solid (fig. 4) but, when bisected, drained 15 ml. chocolate brown fluid. The mass was identified by gross and microscopic examination as uterus lined with proliferative endometrium. Sections from the distal end of the uterus showed a cervix-like lumen with miillerian epithelial lining. The larger mass was cystic and filled with chocolate brown soft material. Microscopic examination showed extensive sheets of hemosiderin-laden macrophages occupying submucosal areas of a fallopian tube. A section through a thickened part of the cyst showed normal ovary with a few follicular cysts. The serosal surfaces were covered by congested fibrovascular tissue representing adhesions containing scattered leukocytes. PATHOLOGICAL DIAGNOSIS
Uterus with proliferative endometrium (left portion of a duplex uterus), left tube with old hematosalpinx, left ovary
Doctor Kogan. Cloacal exstrophy is caused most likely by an abnormal persistent cloacal membrane, presumably consisting of endoderm and ectoderm only. Although unstable, so that it ultimately ruptures, its presence presumably prevents ingrowth of normal mesoderm, accounting for the midline defects seen in this condition. Not only is the abdominal wall open but the pubic symphysis is spread widely and midline spinal defects also are common. It is not surprising that the genitalia are likely to be separated and, therefore, bifid. In the male subject the scrotum generally is underdeveloped or bifid and the corpora cavernosa are separated widely. Although reconstruction is possible the resulting phallus most often is inadequate. Most male patients should be assigned the female gender and should undergo reconstruction as soon as feasible (generally when they are 1 to 2 years old). In female patients the persistent cloacal membrane prevents fusion of the miillerian ducts and genital tubercles, resulting in a bicornate or, in some instances, a duplicated uterus. The vagina is duplicated or absent and the clitoris generally is bifid. Our patient had complete duplication of the uterus and vagina with a bifid clitoris. Hematocolpos most likely occurs as a result of an imperforate hymen. In our case the vagina below the mass was completely normal in appearance, and the obstruction most likely was caused by cervical atresia. As the uterus was distended by menstrual blood, the only outlet was reflux back up the fallopian tube. The uterine muscle prevents gross distension of the uterus but there is no such mechanism preventing the fallopian tube from reaching large proportions. With improvements in neonatal and pediatric surgical care, it is likely that increasing numbers of these children will survive. The high incidence of genital abnormalities makes it likely that similar cases will be seen more often. A high index of suspicion for this type of problem might have enabled earlier diagnosis and allowed for internal drainage, preserving both ovaries and preventing the obstruction of the conduit. SUBSEQUENT COURSE
Doctor Mee. The patient was asymptomatic 2 months postoperatively, with a well healed abdominal wound and a healthy stoma. A followup ultrasound showed complete resolution of the hydronephrosis. The uterus and right ovary appeared to be normal, and no other pelvic masses were seen. A vaginal examination revealed a small but adequately distensible vagina.
THE JOURNAL OF UROLOGY
Copyright © 1986 by The Williams & Wilkins Co.
Printed in U.S.A.
Clinicopathological Conference AN 18-YEAR-OLD WOMAN BORN WITH CLOACAL EXSTROPHY SHARRON MEE, HEDVIG HRICAK, BARRY A. KOGAN*
AND
JOHN J. MOLNAR
From the Departments of Urology, Radiology and Pathology, University of California School of Medicine, San Francisco, California
creatinine 0.8 mg./dl. and carbon dioxide 27 mEq./1. The catheterized conduit residual volume was 30 ml. and urine culture yielded more than 100,000 colonies per ml. of mixed gramnegative rods. The pyelonephritis resolved with a short course of intravenous antibiotics and removal of the abdominal binder. Heal loopography, ultrasonography and magnetic resonance imaging of the pelvis were performed.
PRESENTATION OF CASEt
Dr. S. Mee. An 18-year-old woman was hospitalized for pyelonephritis. She had been born with cloacal exstrophy, sacral anomalies, a normal left kidney and a right pelvic kidney. Cystectomy and placement of an ileal conduit had been performed when she was 2 years old. During the procedure the patient was noted to have normal ovaries and fallopian tubes, as well as a right uterus and vaginal opening below the right ureteral orifice. A small uterus was seen on the left side but no ipsilateral vagina was visualized. The congenital sacral anomalies were investigated when the patient was 13 years old because of numbness in the left buttock and weakness in the right leg. Myelography demonstrated hydromyelia of the entire cord, and a lipoma and meningocele of the lumbosacral area with spinal cord tethering. The lipomeningocele was excised, the cord was freed and the hydromyelia was treated with a silicone shunt to the subarachnoid space, resulting in stabilization of the neurological deficits. The patient progressed normally without subsequent genitourinary problems. Menarche began when she was 13 years old, with normal monthly cycles characterized by moderate uterine cramping. When the patient was 15 years old the serum creatinine was 0.8 mg./dl. and excretory urography showed mild hydroureteronephrosis consistent with chronic placement of an ileal conduit. Three days before the current presentation with pyelonephritis the patient had undergone removal of a superficial lipoma overlying the spine. A circumferential abdominal binder had been used to compress the surgical site on the back, and this had obstructed the ileal conduit. The patient presented with a temperature of 39.4C, pelvic pain, and numerous white blood cells and bacteria in the urine. On examination the patient appeared moderately ill. The lungs and heart were normal, and there was normal breast development. Abdominal examination revealed a well healed midline scar, a right lower quadrant ileostomy and a left lower quadrant stoma from the ileal conduit. The left lower quadrant was tender to palpation, with some increased fullness. There was a clean, healing midline incision over the lumbar vertebrae. Perineal examination revealed a bifid clitoris and several small openings without an obvious vaginal vestibule. Neurologically, there was a mild decrease in the reflexes, sensation and motor function of the lower extremities, and she walked with an obvious foot drop. The hematocrit was 33 per cent, white cell count 11,800/ mm. 3 with 48 per cent neutrophils and 23 per cent bands, serum
* Requests for reprints: Department of Urology, U-518 University of California, San Francisco, California 94143. ' t Case presented at Urology Department Grand Rounds University of California, San Francisco, July 13, 1985. '
RADIOGRAPHIC FINDINGS
Dr. H. Hricak. The ileal loopogram showed free reflux into the markedly dilated right ureter and collecting system of the right pelvic kidney. Reflux into the hydronephrotic left collecting system was slightly delayed. There was poor drainage of the collecting systems of both kidneys (fig. 1). A soft tissue mass medial to the conduit suggested extrinsic conduit compression. Ultrasound (performed with a high resolution, electronically focused, linear array, real-time system with a 3.5 MHz. transducer) revealed marked hydronephrosis of the right pelvic kidney. To a lesser degree there was pelviocaliectasis of the left kidney. A large mass was evident medial to the pelvic kidney (fig. 2). The mass was well encapsulated, had uniformly distributed medium level echoes and exhibited no through transmission. The mass was considered solid, most probably ovarian in origin. Magnetic resonance imaging was performed with a Diasonics MT/S system with a 0.5 tesla cryogenic magnet operating at 0.35 tesla (proton resonance frequency 15 MHz.). Direct sagittal, coronal and transaxial sections through the pelvis were imaged with the spin-echo technique, and repetition times of 2.0, 1.5 and 0.5 seconds. The echo delay times used were 28 and 56 msec. In the transaxial mode a multiple echo was performed with repetition times of 28 to 140 msec. Imaging sections were 7 mm. thick with a 3 mm. gap between sections. The right pelvic kidney was identified and moderate pelviocaliectasis, as well as dilatation of the right pelvic ureter to the level of the ileal conduit, was well demonstrated (fig. 3, A). Anterior and to the right of the pelvic kidney there was a normal uterus with good definition of the endometrium and myometrium (fig. 3, B). A normal cervix and continuation to the vagina on the right side were well displayed on coronal and sagittal sections. Medial to the pelvic kidney was a complex midline pelvic mass with 2 large components. The superior component had a high signal intensity regardless of the repetition and echo delay times used (a finding compatible with either a fat-containing tumor or a cyst filled with old blood). The inferior, smaller mass had a magnetic resonance image characteristic of solid tissue. It was not clear whether the pelvic mass represented a single lesion or 2 coincidental masses. In addition, the patient had marked distortion of the lumbosacral spine with associated dysraphism and, in the same location, an associated lipoma to the left of the midline (fig. 3, C).
762
WOMAN BORN WITH CLOACAL EXSTROPHY
763
REVIEW AND DIFFERENTIAL DIAGNOSIS
FIG. 1. Heal loopogram 20 minutes after removal of catheter demonstrates poor drainage from both collecting systems, despite good drainage of distal ilea! conduit.
FIG. 2. Abdominal ultrasound, transverse section, shows large mass (M) with uniform internal echoes. Mass was believed to be solid and is medial to pelvic kidney ( K).
Dr. B. A. Kogan. This young woman had done extremely well after surgical repair of the cloacal exstrophy. She was intelligent, doing well in college and socially well adjusted. She was sexually inactive. Notably, there was no history of urinary or gynecological problems. The episode of pyelonephritis most likely was precipitated by obstruction owing to the abdominal binder placed after the lipectomy. However, there was obvious evidence of earlier obstruction, that is the large conduit residual (measured after the binder was removed), the hydronephrosis on sonography and the loopogram findings. Deterioration of ileal conduits during the long term is well recognized and could explain these findings but the radiographic appearance was atypicaL Furthermore, the close proximity of the pelvic masses suggested compression or invasion of the loop as the most likely cause. The nature of the masses was unclear. Sonography demonstrated a single, solid pelvic mass. However, magnetic resonance imaging clearly delineated 2 separate lesions with apparently different characteristics. That the upper mass was an anterior meningocele or collection of cerebrospinal fluid related to the previous spinal defect and surgery was unlikely on the basis of the operative notes and magnetic resonance imaging, which suggested a high fat content or blood. It could have been a lipoma or, more likely, a remnant of hindgut inadvertently buried within the pelvis during the early reconstruction. This remnant presumably could fill with mucus, and the high fat content in the secretions might have the characteristics seen on magnetic resonance imaging. Also to be considered was the possibility of hematocolpos or hematometrium. The right uterus was well visualized and normal in appearance, although deviated laterally. A small left uterus had been noted at the time of urinary diversion. If this organ was drained by a vagina with an imperforate hymen it might have become distended with blood in postpubertal years. Old blood might have characteristics of the upper lesion on magnetic resonance imaging but the lower lesion would be difficult to explain. Furthermore, the mass was believed to be solid on sonography. The most likely possibility was an ovarian tumor. A teratoma containing numerous different tissue types would be likely in the pelvis and might have widely varying characteristics on magnetic resonance imaging. That it would appear as 2 separate masses is less likely and the preoperative impression was that there were 2 different lesions, perhaps the upper being a hindgut remnant and the lower an ovarian tumor. An exploratory laparotomy was performed for diagnosis and to relieve the obstruction.
FIG. 3. Magnetic resonance imaging. A, coronal image shows right pelvic kidney (K) and ureter (arrow). B, more anterior coronal section clearly demonstrates right corpus uterus (asterisk), cervix (black arrow) and vagina (white arrow), as well as 2 separate masses (Mand U) with different imaging characteristics. C, transverse image at 81 level demonstrates lipoma (L) posteriorly and mass (M) anteriorly. There is no obvious connection.
764
CLINICOPATHOLOGICAL CONFERENCE
with follicular cysts, and multiple tubo-ovarian and parametrial adhesions. DISCUSSION
FIG. 4. Gross specimen shows markedly thickened uterus with remnant of normal vagina on left side. Uterus and fallopian tube (right side) were filled with chocolate brown fluid. OPERATIVE FINDINGS
Doctor Mee. The lower quadrant masses were identified. The lower mass was firm, 5 cm. in diameter, and connected superiorly by an isthmus to an 8 X 6 X 5 cm. cystic mass containing chocolate colored fluid and inferiorly to a normal vagina. The ileal conduit and its mesentery were compressed over and adherent to the superior mass. Both masses were resected en bloc and the ileal conduit was revised. PATHOLOGICAL FINDINGS
Dr. J. J. Molnar. The lower mass was solid (fig. 4) but, when bisected, drained 15 ml. chocolate brown fluid. The mass was identified by gross and microscopic examination as uterus lined with proliferative endometrium. Sections from the distal end of the uterus showed a cervix-like lumen with miillerian epithelial lining. The larger mass was cystic and filled with chocolate brown soft material. Microscopic examination showed extensive sheets of hemosiderin-laden macrophages occupying submucosal areas of a fallopian tube. A section through a thickened part of the cyst showed normal ovary with a few follicular cysts. The serosal surfaces were covered by congested fibrovascular tissue representing adhesions containing scattered leukocytes. PATHOLOGICAL DIAGNOSIS
Uterus with proliferative endometrium (left portion of a duplex uterus), left tube with old hematosalpinx, left ovary
Doctor Kogan. Cloacal exstrophy is caused most likely by an abnormal persistent cloacal membrane, presumably consisting of endoderm and ectoderm only. Although unstable, so that it ultimately ruptures, its presence presumably prevents ingrowth of normal mesoderm, accounting for the midline defects seen in this condition. Not only is the abdominal wall open but the pubic symphysis is spread widely and midline spinal defects also are common. It is not surprising that the genitalia are likely to be separated and, therefore, bifid. In the male subject the scrotum generally is underdeveloped or bifid and the corpora cavernosa are separated widely. Although reconstruction is possible the resulting phallus most often is inadequate. Most male patients should be assigned the female gender and should undergo reconstruction as soon as feasible (generally when they are 1 to 2 years old). In female patients the persistent cloacal membrane prevents fusion of the miillerian ducts and genital tubercles, resulting in a bicornate or, in some instances, a duplicated uterus. The vagina is duplicated or absent and the clitoris generally is bifid. Our patient had complete duplication of the uterus and vagina with a bifid clitoris. Hematocolpos most likely occurs as a result of an imperforate hymen. In our case the vagina below the mass was completely normal in appearance, and the obstruction most likely was caused by cervical atresia. As the uterus was distended by menstrual blood, the only outlet was reflux back up the fallopian tube. The uterine muscle prevents gross distension of the uterus but there is no such mechanism preventing the fallopian tube from reaching large proportions. With improvements in neonatal and pediatric surgical care, it is likely that increasing numbers of these children will survive. The high incidence of genital abnormalities makes it likely that similar cases will be seen more often. A high index of suspicion for this type of problem might have enabled earlier diagnosis and allowed for internal drainage, preserving both ovaries and preventing the obstruction of the conduit. SUBSEQUENT COURSE
Doctor Mee. The patient was asymptomatic 2 months postoperatively, with a well healed abdominal wound and a healthy stoma. A followup ultrasound showed complete resolution of the hydronephrosis. The uterus and right ovary appeared to be normal, and no other pelvic masses were seen. A vaginal examination revealed a small but adequately distensible vagina.