Discussion
The true etiology of bladder exstrophy is not known. In classic bladder exstrophy, the lower urinary tract, genitalia, and musculoskeletal system are all affected. Prevalence of classic bladder exstrophy is 0.33 per 10,000 deliveries [2]. Some cases strongly suggest a genetic component [10]. Antenatal ultrasound findings suggestive of exstrophy-epispadias complex include the following:
- Repeated failure to visualize the bladder
- Lower abdominal wall mass
- Low-set umbilical cord
- Intestinal atresia
- Abnormal genitalia
Neonatal Clinical findings:
- The bladder is open on the lower abdomen, with mucosa fully exposed through a triangular fascial defect
- The abdominal wall appears long because of a low-set umbilicus on the upper edge of the bladder plate
- The distance between the umbilicus and anus is shortened
- The rectus abdominis muscles diverge distally and attach to the widely separated pubic bones [4]
- Indirect inguinal hernias are frequent (>80% of males, >10% of females) due to wide inguinal rings and the lack of an oblique inguinal canal
- The phallus is broad, short with upward curvature, cryptorchidism or abnormalities of the scrotum may be present
Conclusions
Bladder exstrophy is a malformation complex involving the abdominal muscles, pelvis, urinary, genital and intestinal tracts. The mechanism of this malformation remains unknown so far. Umbilical cord cyst as a clue to prenatal diagnosis of bladder exstrophy was first described by Tong et al. [6]. Our case documents the history of this anomaly, it's difficult management and serious consequences. [1-13]
Taking into the account the evolution of this case, it is possible to formulate the hypothesis that the natural history of this congenital anomaly begins with a failure of the closure of the lower abdominal wall. We think that megacystis which was apparent at 16 weeks of gestation, emerged through the abdominal wall, ruptured and it's walls everted. This would explain why the follow-up ultrasound examination at 20 weeks showed different findings. A detailed ultrasound evaluation is necessary and requires an experienced sonographer. Multidisciplinary management and counseling are necessary. [1]
References
1. Furtos C, Chene G, Varlet MN, Varlet F, Seffert P, Chauleur C. [Prenatal diagnosis and management of isolated bladder exstrophy]. Gynecol Obstet Fertil. 2010 Oct;38(10):624-30.
2. Ebert AK, Reutter H, Ludwig M, Rösch WH. The exstrophy-epispadias complex. Orphanet J Rare Dis. 2009 Oct 30;4:23.
3. Tu W, Chueh J, Kennedy W. Dichorionic diamniotic twin pregnancy discordant for bladder exstrophy. Adv Urol. 2009:186483.
4. Mabille M, De Laveaucoupet J, Senat MV, Picone O, Levaillant JM, Mas AE, MussetD. Imaging of the fetal bony pelvis by computed tomography in a case of bladder exstrophy. Ultrasound Obstet Gynecol. 2009 Jun;33(6):716-9.
5. Yiee J, Wilcox D. Abnormalities of the fetal bladder. Semin Fetal Neonatal Med. 2008 Jun;13(3):164-70.
6. Tong SY, Lee JE, Kim SR, Lee SK. Umbilical cord cyst: a prenatal clue to bladder exstrophy. Prenat Diagn. 2007 Dec;27(12):1177-9.
7. Hsieh K, O'Loughlin MT, Ferrer FA.Bladder exstrophy and phenotypic gender determination on fetal magnetic resonance imaging.Urology. 2005 May;65(5):998-9.
8. Metcalfe PD, Schwarz RD. Bladder exstrophy: neonatal care and surgical approaches. J Wound Ostomy Continence Nurs. 2004 Sep-Oct;31(5):284-92.
9. Evangelidis A, Murphy JP, Gatti JM. Prenatal diagnosis of bladder exstrophy by 3-dimensional ultrasound. J Urol. 2004 Sep;172(3):1111.
10. Froster UG, Heinritz W, Bennek J, Horn LC, Faber R. Another case of autosomal dominant exstrophy of the bladder. Prenat Diagn. 2004 May;24(5):375-7.
11. Mourtzinos A, Borer JG. Current management of bladder exstrophy. Curr Urol Rep. 2004 Apr;5(2):137-41.
12. Lee EH, Shim JY. New sonographic finding for the prenatal diagnosis of bladder exstrophy: a casereport. Ultrasound Obstet Gynecol. 2003 May;21(5):498-500.
13. Chandrasekharam VV, Bajpai M .Management of bladder exstrophy. Indian J Pediatr. 2000 Aug; 67(8):579-81.