Mayer-rokitansky syndrome and anorectal malformation
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《美国医学杂志》
Department of Pediatric Surgery, Maulana Azad Medical College, New Delhi, India
I read the Clinical Brief ' Mayer-Rokitansky syndrome More Details and anorectal malformation'[1] published in December issue 2004 of IJP with interest. Refer to discussion- the authors state that 'amongst malformations, mullerian duct agenesis is frequently found with common cloacal anomaly' Then they state that 'primary amenorrhea in an adolescent girl is the commonest presentation'. They do mention that 'sigmoid colon should be left intact for vaginal reconstruction and vaginoplasty is done at the time of anorectoplasty', but they do not emphasise the preferred technique; may be it was beyond the scope of this report. The authors have not included a single reference relating to this unique association of Mayer-Rokitansky Syndrome and rectovestibular fistula.
Secondly, why was the patient having repeated episodes of UTI
I wish to categorically state that, on review of all the available literature, the rectovestibular fistula is the commonest, if not the only, anorectal malformations that coexists with the uterovaginal agenesis (MRKH Syndrome). [2],[3],[4],[5],[6],[7],[8],[9],[10],[11] If the authors would scan the literature diligently, they would realise the association of cloacal anomalies is known to occur only in cases of partial vaginal atresia/stenosis, cervical agenesis, and the presentation in all such cases had been hydrometrocolpos. The confusion has arisen when we discuss the coexistence of anorectal malformations and uterovaginal malformations (UVM).[12] UVM includes septate vagina, partial vaginal atresia/stenosis, cervical agenesis, genitourinary duplications besides uterovaginal agenesis.
I wish to emphasise here that we should not discuss this association in the light of literature that is available for isolated MRKH Syndrome alone. The literature pertaining to MRKH alone is available only for adolescents and adults; this entity, for obvious reasons, is invariably missed in neonates and young children. But situation is different when the same child has anorectal malformation also; the neonatologist or pediatric surgeon cannot miss anus not being at the normal site. The most important issue in this context is that if a girl is born with anorectal malformation, we should look for the number of orifices in the perineum. If there are two orifices in the perineum of a girl with imperforate anus, it could be either a rectovaginal fistula or a rectovestibular fistula with uterovaginal agenesis.[2] This diagnosis should be made at birth itself and picking up this association at till puberty when the girl would present with amenorrhoea amounts to negligence. But this would go on happening till we are unaware of the unique association of uterovaginal agenesis and rectovestibular fistula.
A word about the preferred technique of surgery- the rectovestibular should not be dissected off and a 10cm distal stump should be left as neovagina and the proximal sigmoid colon should be pulled through as neo-anorectum.[4]
References
1. Patankar SP, Kalrao V, Patankar SS. Mayer-Rokitansky Syndrome and anorectal malformation. Indian J Pediatr 2004;71: 1133-1135.
2. Sarin YK, Sinha A. Two orifices in perineum of a girl with imperforate anus: possibility of uterovaginal agenesis associated with rectovestibular fistula. J Pediatr Surg 2002; 37: 1217-1219.
3. Sinha A, SarinYK. Mayer-Rokitansky Syndrome with Imperforate Anus - A unique association. J Indian Assoc Pediatr Surg 2001; 6: 30-33.
4. Levitt MA, Stein DM, Pena A. Rectovestibular fistula with absent vagina: A unique anorectal malformation. J Pediatr Surg 1998; 33: 986-990.
5. Patankar JZ, Mali VP, Yashpal R, Neo GTH, Prabhakaran K. Anorectal malformation with congenital absence of vagina; a case report and review of literature. Pediatr Surg Int 2004; 20: 295-297.
6. Scorpio RJ, Beals Da, Powell RW. Vaginal agenesis discovered during repair of high imperforate anus: operative management. Am Surg 1998; 64: 1066-1069.
7. Cohn BD, Murphy DR. Imperforate anus with agenesis of the vagina. Ann Surg 1956; 143: 430-432.
8. Ein SH, Stephens CA. Vaginal reconstruction in children with absent vagina and imperforate anus. J Pediatr Surg 1971; 6: 435-439.
9. Canning DA. Rectovestibular fistula with absent vagina: a unique anorectal malformation. J Urol 1999; 162:277-278.
10. Hendren WH, Molenaar JC. Simultaneous construction of vagina and rectum in a patient with absence of both. Z Kinderchir 1987; 42: 112-114.
11. Adejuyigbe O, Sowande OA, Olayinka OS, Fasubaa OB. Rectovestibular fistula with absent distal vagina in an adolescent Nigerian girl. J Pediatr Surg 2002; 37: 1479-1480.
12. Tolete-Velcek F, Hansbrough F, Kugaczewski J, Coren CV, Klotz DH, Price AF et al. Uterovaginal malformations: A trap for the unsuspecting surgeon. J Pediatr Surg 1989; 24: 736-740.(Sarin YK)
I read the Clinical Brief ' Mayer-Rokitansky syndrome More Details and anorectal malformation'[1] published in December issue 2004 of IJP with interest. Refer to discussion- the authors state that 'amongst malformations, mullerian duct agenesis is frequently found with common cloacal anomaly' Then they state that 'primary amenorrhea in an adolescent girl is the commonest presentation'. They do mention that 'sigmoid colon should be left intact for vaginal reconstruction and vaginoplasty is done at the time of anorectoplasty', but they do not emphasise the preferred technique; may be it was beyond the scope of this report. The authors have not included a single reference relating to this unique association of Mayer-Rokitansky Syndrome and rectovestibular fistula.
Secondly, why was the patient having repeated episodes of UTI
I wish to categorically state that, on review of all the available literature, the rectovestibular fistula is the commonest, if not the only, anorectal malformations that coexists with the uterovaginal agenesis (MRKH Syndrome). [2],[3],[4],[5],[6],[7],[8],[9],[10],[11] If the authors would scan the literature diligently, they would realise the association of cloacal anomalies is known to occur only in cases of partial vaginal atresia/stenosis, cervical agenesis, and the presentation in all such cases had been hydrometrocolpos. The confusion has arisen when we discuss the coexistence of anorectal malformations and uterovaginal malformations (UVM).[12] UVM includes septate vagina, partial vaginal atresia/stenosis, cervical agenesis, genitourinary duplications besides uterovaginal agenesis.
I wish to emphasise here that we should not discuss this association in the light of literature that is available for isolated MRKH Syndrome alone. The literature pertaining to MRKH alone is available only for adolescents and adults; this entity, for obvious reasons, is invariably missed in neonates and young children. But situation is different when the same child has anorectal malformation also; the neonatologist or pediatric surgeon cannot miss anus not being at the normal site. The most important issue in this context is that if a girl is born with anorectal malformation, we should look for the number of orifices in the perineum. If there are two orifices in the perineum of a girl with imperforate anus, it could be either a rectovaginal fistula or a rectovestibular fistula with uterovaginal agenesis.[2] This diagnosis should be made at birth itself and picking up this association at till puberty when the girl would present with amenorrhoea amounts to negligence. But this would go on happening till we are unaware of the unique association of uterovaginal agenesis and rectovestibular fistula.
A word about the preferred technique of surgery- the rectovestibular should not be dissected off and a 10cm distal stump should be left as neovagina and the proximal sigmoid colon should be pulled through as neo-anorectum.[4]
References
1. Patankar SP, Kalrao V, Patankar SS. Mayer-Rokitansky Syndrome and anorectal malformation. Indian J Pediatr 2004;71: 1133-1135.
2. Sarin YK, Sinha A. Two orifices in perineum of a girl with imperforate anus: possibility of uterovaginal agenesis associated with rectovestibular fistula. J Pediatr Surg 2002; 37: 1217-1219.
3. Sinha A, SarinYK. Mayer-Rokitansky Syndrome with Imperforate Anus - A unique association. J Indian Assoc Pediatr Surg 2001; 6: 30-33.
4. Levitt MA, Stein DM, Pena A. Rectovestibular fistula with absent vagina: A unique anorectal malformation. J Pediatr Surg 1998; 33: 986-990.
5. Patankar JZ, Mali VP, Yashpal R, Neo GTH, Prabhakaran K. Anorectal malformation with congenital absence of vagina; a case report and review of literature. Pediatr Surg Int 2004; 20: 295-297.
6. Scorpio RJ, Beals Da, Powell RW. Vaginal agenesis discovered during repair of high imperforate anus: operative management. Am Surg 1998; 64: 1066-1069.
7. Cohn BD, Murphy DR. Imperforate anus with agenesis of the vagina. Ann Surg 1956; 143: 430-432.
8. Ein SH, Stephens CA. Vaginal reconstruction in children with absent vagina and imperforate anus. J Pediatr Surg 1971; 6: 435-439.
9. Canning DA. Rectovestibular fistula with absent vagina: a unique anorectal malformation. J Urol 1999; 162:277-278.
10. Hendren WH, Molenaar JC. Simultaneous construction of vagina and rectum in a patient with absence of both. Z Kinderchir 1987; 42: 112-114.
11. Adejuyigbe O, Sowande OA, Olayinka OS, Fasubaa OB. Rectovestibular fistula with absent distal vagina in an adolescent Nigerian girl. J Pediatr Surg 2002; 37: 1479-1480.
12. Tolete-Velcek F, Hansbrough F, Kugaczewski J, Coren CV, Klotz DH, Price AF et al. Uterovaginal malformations: A trap for the unsuspecting surgeon. J Pediatr Surg 1989; 24: 736-740.(Sarin YK)