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CLINICAL LETTERS
Skin-Covered Bladder Exstrophy Diagnosed Antenatally A 29-year-old primigravida with no history of illnesses, drug intake, or exposure to radiation during pregnancy was referred to our ultrasound unit at 15 weeks’ gestation
because of an abnormal image of the fetal urinary bladder. The scan revealed a slightly enlarged bladder located outside the lower abdominal cavity, small bilateral ureterocele, and pyelectasis (Figure 1, A and B). The amniotic fluid index was normal. Amniocentesis was performed, and chromosomal analysis showed a normal 46,XY male karyotype.
Figure 1. Images from a fetus with skin-covered bladder exstrophy. A, Sonogram at 15 weeks’ gestation showing an enlarged urinary bladder located outside the abdominal cavity. The arrow indicates a thin layer of skin covering the urinary bladder. The anterior wall of the bladder is not visible. B, Sonogram at 15 weeks. The arrows indicate bilateral ureterocele. C, Histologic image of the anterior wall of the urinary bladder (postmortem, hematoxylineosin, original magnification ×50). The wide black arrow indicates keratinized stratified squamous epithelium on the skin surface; narrow black arrow, metaplastic squamous epithelium covering the inner lumen of the urinary bladder; and white arrow, thin layer of dermis covering the bladder lacking muscularis. No abdominal wall structures are present. D, Histologic image of the anterolateral wall of the urinary bladder (postmortem, hematoxylineosin, original magnification ×32). The black arrow indicates the inner lumen of the bladder covered with urothelial epithelium; and white arrow, widened vessels corresponding to cavernous bodies of the undeveloped penis. A
B
C
D
J Ultrasound Med 2013; 32:2043–2046
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Clinical Letters
After a consultation with a pediatric urologist, a diagnosis of a very rare anomaly called pseudoexstrophy of the bladder was established. A follow-up scan at 21 weeks’ gestation showed a long-shaped urinary bladder and a dilated right ureter. Both kidneys were normal. The lower part of the bladder was turned inside out. The anterior wall could not be visualized, and it looked as if it was made only of skin. Although the pelvic anatomy was difficult to describe, the iliac wings appeared normal. External male genitals could not be identified. The amniotic fluid index was normal. The mother was counseled by a pediatric urologist regarding the long-term quality of life and requested termination of the pregnancy. The autopsy revealed the following findings: The pubic symphysis was widened, and the rectus abdominis muscles were absent. An enlarged urinary bladder with normal ureteral orifices was eviscerated and covered with a thin layer of skin. External genital organs were abnormal. There was no penis, and an enlarged scrotum contained bilateral gelatinous masses probably corresponding to cavernous bodies. Normal testes were found in the location typical of ovaries. The right ureter and renal pelvis were widened. The anus was imperforate. Histologic examination confirmed the diagnosis of pseudoexstrophy of the bladder (Figure 1, C and D). The exstrophy-epispadias complex is a congenital anomaly that involves a spectrum of abnormalities of the lower abdominal wall, urinary bladder, pelvic bones, and external genitalia. It occurs in 1 per 10,000 pregnancies (1 per 50,000 deliveries) and is probably caused by failure of the abdominal wall to close early in the fetal development.1,2 In pseudoextrophy (skin-covered exstrophy), which is the mildest form of bladder exstrophy, a thin epithelial membrane covers an intact bladder. The bladder covering may consist of skin alone or may contain a patch of ectopic vesical mucosa.1,2 There are only a few cases of pseudoexstrophy reported in the literature, all of them diagnosed postnatally.3–7 Covered exstrophy is known to be associated with anorectal malformations, a pouch colon, and genital anomalies, including diphallus and a bifid scrotum.3–7 All of these findings are very uncommon in association with classic bladder exstrophy. The urethra and internal sphincter are usually intact, providing normal urinary continence, and clinical features may be very subtle. Nevertheless, because of possible serious morbidities, prenatal counseling remains difficult.1 The long-term quality of life, especially regarding urinary and sexual functions in a male fetus with nonvisible external genitals, is questionable, and the literature on this subject is scarce.
2044
Our case complied with the conditions of pseudoexstrophy of the bladder. The bladder was covered with a thin layer of epithelium. Except for a megaureter, the urinary tract was intact. Bilateral ureterocele is a common finding in the exstrophy-epispadias complex because of an abnormal development of the ureterovesical junction.1 However, there was a severe malformation of the external genitals, and the fetus would have required complicated multistage surgery after birth. For that reason, the mother opted for termination of the pregnancy. The differential diagnosis of pseudoexstrophy should include classic exstrophy, the OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), a patent urachus, and a normal bladder. The most common sonographic manifestation of classic bladder exstrophy is nonvisualization of the bladder.8 In our case, the bladder was enlarged and located outside the fetal abdomen. In addition, a thin layer of skin could be identified. The OEIS complex is considered the extreme end of the exstrophy-epispadias complex and may also be seen with pseudoexstrophy. An association with palatal, renal, cardiac, and spinal anomalies can occur.9 Our case did not fit the OEIS complex, as neither omphalocele nor a spinal defect was present. A patent urachus can be diagnosed by visualization of a cystic mass in the umbilical cord communicating with the bladder. It regresses in size spontaneously during pregnancy.10 In conclusion, to our knowledge, we report the first case of antenally diagnosed skin-covered bladder exstrophy. We hope that the images provided will facilitate the diagnosis of this anomaly in the future. Magdalena Rudzińska, MSc, Julia Bijok, MD, Kornelia Tomaszewska, MD, Diana Massalska, MD, Piotr Gastoł, PhD, Joanna Ostrowska, MD, Grzegorz Jakiel, PhD, MD, Tomasz Roszkowski, MD First Department of Obstetrics and Gynecology Center for Medical Postgraduate Education Warsaw, Poland (M.R., J.B., K.T., D.M., G.J., T.R.) Department of Pediatric Urology Children’s Memorial Health Institute Warsaw, Poland (P.G.) Department of Pathology Professor Witold Orlowski Clinical Hospital Center for Medical Postgraduate Education Warsaw, Poland (J.O.) doi:10.7863/ultra.32.11.2043
J Ultrasound Med 2013; 32:2043–2046
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Clinical Letters
References 1.
Ebert AK, Reutter H, Ludwig M, Rösch WH. The exstrophy-epispadias complex. Orphanet J Rare Dis 2009; 4:23. 2. Stec AA. Embryology and bony and pelvic floor anatomy in the bladder exstrophy-epispadias complex. Semin Pediatr Surg 2011; 20:66–70. 3. Meisheri IV, Kasat LS, Bahety G, Sawant V, Kothari P, Kumar A. Pseudoexstrophy of the bladder: a rare variant. Pediatr Surg Int 2001; 17:224–225. 4. Swana HS, Gallagher PG, Weiss RM. Pseudoexstrophy of the bladder: case report and literature review. J Pediatr Surg 1997; 32:1480–1481. 5. Devendra K, Mahajan JK, Rao KL. Pseudoexstrophy associated with megalourethra. J Pediatr Surg 2002; 37:E26. 6. O’Leary R, Davies P, Challis D, Bury G. Closed bladder exstrophy (pseudoexstrophy) associated with mesodermal anomalies. J Ultrasound Med 1995; 14:311–314. 7. Chadha R, Sharma A, Bagga D, Mahajan JK. Pseudoexstrophy associated with congenital pouch colon. J Pediatr Surg 1998; 33:1831–1833. 8. Goldstein I, Shalev E, Nisman D. The dilemma of prenatal diagnosis of bladder exstrophy: a case report and a review of the literature. Ultrasound Obstet Gynecol 2001; 17:357–359. 9. Ben-Neriah Z, Withers S, Thomas M, et al. OEIS complex: prenatal ultrasound and autopsy findings. Ultrasound Obstet Gynecol2007; 29:170–177. 10. Raga F, Bonilla-Musoles F, Castillo JC. SonoAVC: a new tool in early diagnosis of patent urachus with bladder prolapse. Ultrasound Obstet Gynecol 2012; 39:241–242.
J Ultrasound Med 2013; 32:2043–2046
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CLINICAL LETTERS
Skin-Covered Bladder Exstrophy Diagnosed Antenatally A 29-year-old primigravida with no history of illnesses, drug intake, or exposure to radiation during pregnancy was referred to our ultrasound unit at 15 weeks’ gestation
because of an abnormal image of the fetal urinary bladder. The scan revealed a slightly enlarged bladder located outside the lower abdominal cavity, small bilateral ureterocele, and pyelectasis (Figure 1, A and B). The amniotic fluid index was normal. Amniocentesis was performed, and chromosomal analysis showed a normal 46,XY male karyotype.
Figure 1. Images from a fetus with skin-covered bladder exstrophy. A, Sonogram at 15 weeks’ gestation showing an enlarged urinary bladder located outside the abdominal cavity. The arrow indicates a thin layer of skin covering the urinary bladder. The anterior wall of the bladder is not visible. B, Sonogram at 15 weeks. The arrows indicate bilateral ureterocele. C, Histologic image of the anterior wall of the urinary bladder (postmortem, hematoxylineosin, original magnification ×50). The wide black arrow indicates keratinized stratified squamous epithelium on the skin surface; narrow black arrow, metaplastic squamous epithelium covering the inner lumen of the urinary bladder; and white arrow, thin layer of dermis covering the bladder lacking muscularis. No abdominal wall structures are present. D, Histologic image of the anterolateral wall of the urinary bladder (postmortem, hematoxylineosin, original magnification ×32). The black arrow indicates the inner lumen of the bladder covered with urothelial epithelium; and white arrow, widened vessels corresponding to cavernous bodies of the undeveloped penis. A
B
C
D
J Ultrasound Med 2013; 32:2043–2046
2043
3211jum_online_Layout 1 10/21/13 8:44 AM Page 2044
Clinical Letters
After a consultation with a pediatric urologist, a diagnosis of a very rare anomaly called pseudoexstrophy of the bladder was established. A follow-up scan at 21 weeks’ gestation showed a long-shaped urinary bladder and a dilated right ureter. Both kidneys were normal. The lower part of the bladder was turned inside out. The anterior wall could not be visualized, and it looked as if it was made only of skin. Although the pelvic anatomy was difficult to describe, the iliac wings appeared normal. External male genitals could not be identified. The amniotic fluid index was normal. The mother was counseled by a pediatric urologist regarding the long-term quality of life and requested termination of the pregnancy. The autopsy revealed the following findings: The pubic symphysis was widened, and the rectus abdominis muscles were absent. An enlarged urinary bladder with normal ureteral orifices was eviscerated and covered with a thin layer of skin. External genital organs were abnormal. There was no penis, and an enlarged scrotum contained bilateral gelatinous masses probably corresponding to cavernous bodies. Normal testes were found in the location typical of ovaries. The right ureter and renal pelvis were widened. The anus was imperforate. Histologic examination confirmed the diagnosis of pseudoexstrophy of the bladder (Figure 1, C and D). The exstrophy-epispadias complex is a congenital anomaly that involves a spectrum of abnormalities of the lower abdominal wall, urinary bladder, pelvic bones, and external genitalia. It occurs in 1 per 10,000 pregnancies (1 per 50,000 deliveries) and is probably caused by failure of the abdominal wall to close early in the fetal development.1,2 In pseudoextrophy (skin-covered exstrophy), which is the mildest form of bladder exstrophy, a thin epithelial membrane covers an intact bladder. The bladder covering may consist of skin alone or may contain a patch of ectopic vesical mucosa.1,2 There are only a few cases of pseudoexstrophy reported in the literature, all of them diagnosed postnatally.3–7 Covered exstrophy is known to be associated with anorectal malformations, a pouch colon, and genital anomalies, including diphallus and a bifid scrotum.3–7 All of these findings are very uncommon in association with classic bladder exstrophy. The urethra and internal sphincter are usually intact, providing normal urinary continence, and clinical features may be very subtle. Nevertheless, because of possible serious morbidities, prenatal counseling remains difficult.1 The long-term quality of life, especially regarding urinary and sexual functions in a male fetus with nonvisible external genitals, is questionable, and the literature on this subject is scarce.
2044
Our case complied with the conditions of pseudoexstrophy of the bladder. The bladder was covered with a thin layer of epithelium. Except for a megaureter, the urinary tract was intact. Bilateral ureterocele is a common finding in the exstrophy-epispadias complex because of an abnormal development of the ureterovesical junction.1 However, there was a severe malformation of the external genitals, and the fetus would have required complicated multistage surgery after birth. For that reason, the mother opted for termination of the pregnancy. The differential diagnosis of pseudoexstrophy should include classic exstrophy, the OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), a patent urachus, and a normal bladder. The most common sonographic manifestation of classic bladder exstrophy is nonvisualization of the bladder.8 In our case, the bladder was enlarged and located outside the fetal abdomen. In addition, a thin layer of skin could be identified. The OEIS complex is considered the extreme end of the exstrophy-epispadias complex and may also be seen with pseudoexstrophy. An association with palatal, renal, cardiac, and spinal anomalies can occur.9 Our case did not fit the OEIS complex, as neither omphalocele nor a spinal defect was present. A patent urachus can be diagnosed by visualization of a cystic mass in the umbilical cord communicating with the bladder. It regresses in size spontaneously during pregnancy.10 In conclusion, to our knowledge, we report the first case of antenally diagnosed skin-covered bladder exstrophy. We hope that the images provided will facilitate the diagnosis of this anomaly in the future. Magdalena Rudzińska, MSc, Julia Bijok, MD, Kornelia Tomaszewska, MD, Diana Massalska, MD, Piotr Gastoł, PhD, Joanna Ostrowska, MD, Grzegorz Jakiel, PhD, MD, Tomasz Roszkowski, MD First Department of Obstetrics and Gynecology Center for Medical Postgraduate Education Warsaw, Poland (M.R., J.B., K.T., D.M., G.J., T.R.) Department of Pediatric Urology Children’s Memorial Health Institute Warsaw, Poland (P.G.) Department of Pathology Professor Witold Orlowski Clinical Hospital Center for Medical Postgraduate Education Warsaw, Poland (J.O.) doi:10.7863/ultra.32.11.2043
J Ultrasound Med 2013; 32:2043–2046
3211jum_online_Layout 1 10/21/13 8:44 AM Page 2045
Clinical Letters
References 1.
Ebert AK, Reutter H, Ludwig M, Rösch WH. The exstrophy-epispadias complex. Orphanet J Rare Dis 2009; 4:23. 2. Stec AA. Embryology and bony and pelvic floor anatomy in the bladder exstrophy-epispadias complex. Semin Pediatr Surg 2011; 20:66–70. 3. Meisheri IV, Kasat LS, Bahety G, Sawant V, Kothari P, Kumar A. Pseudoexstrophy of the bladder: a rare variant. Pediatr Surg Int 2001; 17:224–225. 4. Swana HS, Gallagher PG, Weiss RM. Pseudoexstrophy of the bladder: case report and literature review. J Pediatr Surg 1997; 32:1480–1481. 5. Devendra K, Mahajan JK, Rao KL. Pseudoexstrophy associated with megalourethra. J Pediatr Surg 2002; 37:E26. 6. O’Leary R, Davies P, Challis D, Bury G. Closed bladder exstrophy (pseudoexstrophy) associated with mesodermal anomalies. J Ultrasound Med 1995; 14:311–314. 7. Chadha R, Sharma A, Bagga D, Mahajan JK. Pseudoexstrophy associated with congenital pouch colon. J Pediatr Surg 1998; 33:1831–1833. 8. Goldstein I, Shalev E, Nisman D. The dilemma of prenatal diagnosis of bladder exstrophy: a case report and a review of the literature. Ultrasound Obstet Gynecol 2001; 17:357–359. 9. Ben-Neriah Z, Withers S, Thomas M, et al. OEIS complex: prenatal ultrasound and autopsy findings. Ultrasound Obstet Gynecol2007; 29:170–177. 10. Raga F, Bonilla-Musoles F, Castillo JC. SonoAVC: a new tool in early diagnosis of patent urachus with bladder prolapse. Ultrasound Obstet Gynecol 2012; 39:241–242.
J Ultrasound Med 2013; 32:2043–2046
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