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MURCS association and rectovestibular fistula: Case report of a patient treated with one-stage posterior sagittal anorectoplasty and sigmoid loop vaginoplasty
MURCS Association and Rectovestibular Fistula: Case Report of a Patient Treated With One-Stage Posterior Sagittal Anorectoplasty and Sigmoid Loop Vaginoplasty By Cu¨neyt Gu¨ns¸ar, Abdu¨lkadir Genc¸, Aydın S¸encan, Zafer Dag˘lar, Og˘uz Alparslan, and Erol Mir Manisa, Turkey
MURCS association is rare, first described by Duncan in 1979, including nonrandom association of Mullerian duct aplasia or hypoplasia (MU), renal agenesis or ectopy (R), and cervicothoracic somite dysplasia. A 5-year-old girl was admitted to the clinic with a complaint of anteriorly located anus. Physical and radiologic examination of the patient found MURCS association with anorectal malformation (ARM) of rectovestibular-type fistula. She had multiple vertebral anomalies, left renal agenesis, vaginal and uterine agenesia, with a normal female 46,XX karyotype. Posterior sagittal anorectoplasty (PSARP) and sigmoid loop vaginal reconstruction was performed as a one-stage operation for
the treatment of vaginal agenesis and ARM. There were no complications in the postoperative period. This combined one-stage operation can be used easily in the treatment of some components of the MURCS association such as vaginal agenesis and ARM as an associated anomaly. J Pediatr Surg 38:262-264. Copyright 2003, Elsevier Science (USA). All rights reserved.
M
infraumbilical median incision. At exploration, agenesia of the uterus, vagina, and left kidney were confirmed. The ovarien biopsies were taken bilaterally, and the result of the frosen sections showed normal ovarien histology. A racketlike incision circumscribing the anus was made after putting the patient in the prone position. The stay sutures were placed circumferentially, and the anus and rectum were dissected from the urethra and other surrounding structures. A midplace in the perineum was prepared for vaginal reconstruction, and posterior sagittal anorectoplasty was performed by controlling the intersphincteric area with the help of an anal stimulator. Then we changed the position of the patient to lithotomy. A 12-cm-long sigmoid loop pedinculated from superior hemoroidal vessels was prepared, and it was taken down to the perineum after closing one end with 2-layer sutures. Neovagina was reconstituted after suturing the open end of the loop to the surrounding perineal tissue. The time of the operation was 5 hours. There were no complications in the early postoperative period. The total parenteral nutrition (TPN) was administered for 10 days postoperatively, and we began oral feeding and anal dilatations after that day. The follow-up period was uneventful, and there were no problems in the third month after the operation.
URCS ASSOCIATION, first described by Duncan et al1 in 1979, is a rare and nonrandom constellation of findings that includes Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. We present our case of rectovestibular-type anorectal malformation combined with MURCS association, who was treated with one-stage operation by discussing this very rare combination with its surgical specialties. CASE REPORT A 5-year-old girl admitted to our clinic with a complaint of anteriorly located anus. She gave no history of constipation, indicating a regular and proper defecation pattern. At physical examination, growth retardation, short neck, and scoliosis was found. Genital examination found vaginal atresia (Fig 1), normally placed urethral orifice, and a very anteriorly located anus as a rectovestibular type fistula. Radiologic investigation of the patient helped us to document the other pathologies such as left renal agenesia and compensation hypertrophia of the right kidney; cervicodorsal and dorsolomber scoliosis; hemivertebrae in C,7 T,1,2,4,12 L,4 and agenesis of the coccyx (Fig 2); numerical anomalies in ribs (13 ribs at right and 10 ribs at left); and uterine agenesis. Blood sampling results showed a normal 46,XX female karyotype. The diagnosis was MURCS association in combination with anorectal malformation. Then she underwent one-stage operation for the treatment of anorectal malformation and vaginal agenesis. The patient was prepared with whole colonic irrigation, and broadspectrum antibiotics were administered. The abdomen was explored via
From the Department of Pediatric Surgery, Celal Bayar University, Medical Faculty, Manisa, Turkey. Address reprint requests to Cu¨neyt Gu¨ns¸ar, Department of Pediatric Surgery, Celal Bayar University, Medical Faculty, 45020 Manisa, Turkey. Copyright 2003, Elsevier Science (USA). All rights reserved. 0022-3468/03/3802-0028$35.00/0 doi:10.1053/jpsu.2003.50060 262
INDEX WORDS: MURCS association, anorectal malformation, vaginal atresia, Mayer Rokitansky, Kuster Hauser complex, uterovaginal malformations, colovaginaplasty, vaginal reconstruction, sigmoid vaginal replacement.
DISCUSSION
In girls, fallopian tubes develop from the distal part of the Mu¨llerian duct, fundus and corpus uteri from the proximal part, and cervix uteri as well as the upper 2 thirds of the vagina from the lowest part (also called canalis uterovaginalis).2 The association of vaginal agenesis and uterine malformation in association with renal or skeletal anomalies has been called the Mayer-Rokitansky-Kuster-Hauser syndrome.3 MURCS association is named when nonrandom combination of entire malformations (skeletal, renal, and cervicothoracic) are formed together.4 The etiology of MURCS association is not known. The karyotype was normal in all investigated cases, and so far all cases have been sporadic.2 The Journal of Pediatric Surgery, Vol 38, No 2 (February), 2003: pp 262-264
MURCS ASSOCIATION
263
Fig 1. Preoperative photograph of the patient shows vaginal agenesis and anteriorly located anus as a rectovestibular-type fistula (urethra is catheterized).
presented case has all of the classical findings of the MURCS association as it was first described by Duncan et al.1 Duncan ascertained 30 patients from the literature including 2 of his own patients, and he described one possible embryologic cause for the nonrandom constellation of findings seen in MURCS. The close relationship of the cervicothoracic somites, limb buds, mesonephros, and paramesonephros during early embryogenesis (in the late fourth or early fifth week of fetal life) would explain the associated defects. Any teratogenic agent affecting the embryo at this stage would cause the maldevelopment of vertebrae and kidneys and organ systems originating from mullerian ducts.1,5,6 In the general population, the incidence of anorectal malformations is 1 in 5,000.7 Anal atresia with rectovestibular type fistula is an intermediary-type anomaly. It is the most common type in girls. Our patient was admitted to the clinic with the complaint of anteriorly located anus. MURCS association was diagnosed incidentally like other reported cases. The association of anorectal and uterovaginal malformations is a known phenomen,8 but a combination with MURCS association has not been reported yet. PSARP is the most widely used operational technique for the treatment of anorectal malformations.9 Also, childhood vaginal anomalies are best treated with single-stage perineal reconstruction.10 Enteric segment vaginoplasty, previously reported in adolescents and adults, does not require dilatation and has growth potential, unlike methods involving skin
Fig 2. Plain radiograph of the patient shows different pathologies including scoliosis, multiple hemivertebrae, and the agenesia of the coccyx.
flaps or free grafts. Sigmoid loop vaginoplasty is an effectively used technique in childhood and puberty for vaginal replacement procedures.11 We used a combination of these 2 techniques as an abdominoperineal pull-through with PSARP. Gluer and Mildenberger12 used a similar treatment modality for a patient with anorectal atresia associated with ambiguous genitalia. They performed a primary one-stage operation successfully.12 Associated anorectal malformation in this patient helped us to diagnose the main anomaly. As a conclusion, we can say that a primary complete reconstruction is advantageous and should be performed in the treatment of some manifestations of MURCS association such as anorectal malformation and vaginal agenesis.
REFERENCES 1. Duncan PA, Shapiro LR, Stangel JJ, et al: The MURCS association—Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 95:399-402, 1979 2. Braun-Quentin C, Billes C, Bowing B, et al: MURCS association: Case report and review. J Med Genet 33:618-620, 1996 3. Griffin JE, Edwards C, Madden JD, et al: Congenital absence of
the vagina. The Mayer-Rokitansky- Kuster- Hauser syndrome. Ann Intern Med 85:224-236, 1976 4. Hensle TW, Kennedy WA: Abnormalities of the female genital tract, in O’Neill JA, Rowe MI, Grosfeld JL, et al (eds): Pediatric Surgery, vol 2 (ed 5). St Louis, MO, Mosby- Year Book, 1998, pp 1819-1833
264
5. Fernandez CO, Mc Farland RD, Timmons C, et al: MURCS association: Ultrasonographic findings and pathologic correlation. J Ultrasound Med 15:867-870, 1996 6. Quentin CB, Billes C, Bo¨ wing B, et al: MURCS association— Case report and review. J Med Genet 33:618-620, 1996 7. Kiely EM, Pen˜ a A: Anorectal malformations, in O’Neill JA, Rowe MI, Grosfeld JL, et al (eds): Pediatric Surgery, vol. 2 (eds). St. Louis, MO, Mosby- Year Book, 1998, pp 1425-1448 8. Tolete-Velcek F, Hansbrough F, Kugaczevski J, et al: Uterovaginal malformations— A trap for the unsuspecting surgeon. J Pediatr Surg 8:736-740, 1989
¨ NS¸ AR ET AL GU
9. Pen˜ a A: Anorectal malformations. Semin Pediatr Surg 4:35-47, 1995 10. Sheldon CA, Gilbert A, Lewis AG: Vaginal reconstruction— Critical technical principles. J Urol 152:190-195, 1994 11. Hitchcock RJ, Malone PS: Colovaginoplasty in infants and children. Br J Urol 73:196-199, 1994 12. Gluer S, Mildenberger H: Feminizing genital reconstruction, sigmoid vaginal replacement and anorectoplasty as a one stage procedure for anorectal atresia associated with ambiguous genitalia. Eur J Pediatr Surg 9:121-123, 1999
MURCS association is rare, first described by Duncan in 1979, including nonrandom association of Mullerian duct aplasia or hypoplasia (MU), renal agenesis or ectopy (R), and cervicothoracic somite dysplasia. A 5-year-old girl was admitted to the clinic with a complaint of anteriorly located anus. Physical and radiologic examination of the patient found MURCS association with anorectal malformation (ARM) of rectovestibular-type fistula. She had multiple vertebral anomalies, left renal agenesis, vaginal and uterine agenesia, with a normal female 46,XX karyotype. Posterior sagittal anorectoplasty (PSARP) and sigmoid loop vaginal reconstruction was performed as a one-stage operation for
the treatment of vaginal agenesis and ARM. There were no complications in the postoperative period. This combined one-stage operation can be used easily in the treatment of some components of the MURCS association such as vaginal agenesis and ARM as an associated anomaly. J Pediatr Surg 38:262-264. Copyright 2003, Elsevier Science (USA). All rights reserved.
M
infraumbilical median incision. At exploration, agenesia of the uterus, vagina, and left kidney were confirmed. The ovarien biopsies were taken bilaterally, and the result of the frosen sections showed normal ovarien histology. A racketlike incision circumscribing the anus was made after putting the patient in the prone position. The stay sutures were placed circumferentially, and the anus and rectum were dissected from the urethra and other surrounding structures. A midplace in the perineum was prepared for vaginal reconstruction, and posterior sagittal anorectoplasty was performed by controlling the intersphincteric area with the help of an anal stimulator. Then we changed the position of the patient to lithotomy. A 12-cm-long sigmoid loop pedinculated from superior hemoroidal vessels was prepared, and it was taken down to the perineum after closing one end with 2-layer sutures. Neovagina was reconstituted after suturing the open end of the loop to the surrounding perineal tissue. The time of the operation was 5 hours. There were no complications in the early postoperative period. The total parenteral nutrition (TPN) was administered for 10 days postoperatively, and we began oral feeding and anal dilatations after that day. The follow-up period was uneventful, and there were no problems in the third month after the operation.
URCS ASSOCIATION, first described by Duncan et al1 in 1979, is a rare and nonrandom constellation of findings that includes Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. We present our case of rectovestibular-type anorectal malformation combined with MURCS association, who was treated with one-stage operation by discussing this very rare combination with its surgical specialties. CASE REPORT A 5-year-old girl admitted to our clinic with a complaint of anteriorly located anus. She gave no history of constipation, indicating a regular and proper defecation pattern. At physical examination, growth retardation, short neck, and scoliosis was found. Genital examination found vaginal atresia (Fig 1), normally placed urethral orifice, and a very anteriorly located anus as a rectovestibular type fistula. Radiologic investigation of the patient helped us to document the other pathologies such as left renal agenesia and compensation hypertrophia of the right kidney; cervicodorsal and dorsolomber scoliosis; hemivertebrae in C,7 T,1,2,4,12 L,4 and agenesis of the coccyx (Fig 2); numerical anomalies in ribs (13 ribs at right and 10 ribs at left); and uterine agenesis. Blood sampling results showed a normal 46,XX female karyotype. The diagnosis was MURCS association in combination with anorectal malformation. Then she underwent one-stage operation for the treatment of anorectal malformation and vaginal agenesis. The patient was prepared with whole colonic irrigation, and broadspectrum antibiotics were administered. The abdomen was explored via
From the Department of Pediatric Surgery, Celal Bayar University, Medical Faculty, Manisa, Turkey. Address reprint requests to Cu¨neyt Gu¨ns¸ar, Department of Pediatric Surgery, Celal Bayar University, Medical Faculty, 45020 Manisa, Turkey. Copyright 2003, Elsevier Science (USA). All rights reserved. 0022-3468/03/3802-0028$35.00/0 doi:10.1053/jpsu.2003.50060 262
INDEX WORDS: MURCS association, anorectal malformation, vaginal atresia, Mayer Rokitansky, Kuster Hauser complex, uterovaginal malformations, colovaginaplasty, vaginal reconstruction, sigmoid vaginal replacement.
DISCUSSION
In girls, fallopian tubes develop from the distal part of the Mu¨llerian duct, fundus and corpus uteri from the proximal part, and cervix uteri as well as the upper 2 thirds of the vagina from the lowest part (also called canalis uterovaginalis).2 The association of vaginal agenesis and uterine malformation in association with renal or skeletal anomalies has been called the Mayer-Rokitansky-Kuster-Hauser syndrome.3 MURCS association is named when nonrandom combination of entire malformations (skeletal, renal, and cervicothoracic) are formed together.4 The etiology of MURCS association is not known. The karyotype was normal in all investigated cases, and so far all cases have been sporadic.2 The Journal of Pediatric Surgery, Vol 38, No 2 (February), 2003: pp 262-264
MURCS ASSOCIATION
263
Fig 1. Preoperative photograph of the patient shows vaginal agenesis and anteriorly located anus as a rectovestibular-type fistula (urethra is catheterized).
presented case has all of the classical findings of the MURCS association as it was first described by Duncan et al.1 Duncan ascertained 30 patients from the literature including 2 of his own patients, and he described one possible embryologic cause for the nonrandom constellation of findings seen in MURCS. The close relationship of the cervicothoracic somites, limb buds, mesonephros, and paramesonephros during early embryogenesis (in the late fourth or early fifth week of fetal life) would explain the associated defects. Any teratogenic agent affecting the embryo at this stage would cause the maldevelopment of vertebrae and kidneys and organ systems originating from mullerian ducts.1,5,6 In the general population, the incidence of anorectal malformations is 1 in 5,000.7 Anal atresia with rectovestibular type fistula is an intermediary-type anomaly. It is the most common type in girls. Our patient was admitted to the clinic with the complaint of anteriorly located anus. MURCS association was diagnosed incidentally like other reported cases. The association of anorectal and uterovaginal malformations is a known phenomen,8 but a combination with MURCS association has not been reported yet. PSARP is the most widely used operational technique for the treatment of anorectal malformations.9 Also, childhood vaginal anomalies are best treated with single-stage perineal reconstruction.10 Enteric segment vaginoplasty, previously reported in adolescents and adults, does not require dilatation and has growth potential, unlike methods involving skin
Fig 2. Plain radiograph of the patient shows different pathologies including scoliosis, multiple hemivertebrae, and the agenesia of the coccyx.
flaps or free grafts. Sigmoid loop vaginoplasty is an effectively used technique in childhood and puberty for vaginal replacement procedures.11 We used a combination of these 2 techniques as an abdominoperineal pull-through with PSARP. Gluer and Mildenberger12 used a similar treatment modality for a patient with anorectal atresia associated with ambiguous genitalia. They performed a primary one-stage operation successfully.12 Associated anorectal malformation in this patient helped us to diagnose the main anomaly. As a conclusion, we can say that a primary complete reconstruction is advantageous and should be performed in the treatment of some manifestations of MURCS association such as anorectal malformation and vaginal agenesis.
REFERENCES 1. Duncan PA, Shapiro LR, Stangel JJ, et al: The MURCS association—Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr 95:399-402, 1979 2. Braun-Quentin C, Billes C, Bowing B, et al: MURCS association: Case report and review. J Med Genet 33:618-620, 1996 3. Griffin JE, Edwards C, Madden JD, et al: Congenital absence of
the vagina. The Mayer-Rokitansky- Kuster- Hauser syndrome. Ann Intern Med 85:224-236, 1976 4. Hensle TW, Kennedy WA: Abnormalities of the female genital tract, in O’Neill JA, Rowe MI, Grosfeld JL, et al (eds): Pediatric Surgery, vol 2 (ed 5). St Louis, MO, Mosby- Year Book, 1998, pp 1819-1833
264
5. Fernandez CO, Mc Farland RD, Timmons C, et al: MURCS association: Ultrasonographic findings and pathologic correlation. J Ultrasound Med 15:867-870, 1996 6. Quentin CB, Billes C, Bo¨ wing B, et al: MURCS association— Case report and review. J Med Genet 33:618-620, 1996 7. Kiely EM, Pen˜ a A: Anorectal malformations, in O’Neill JA, Rowe MI, Grosfeld JL, et al (eds): Pediatric Surgery, vol. 2 (eds). St. Louis, MO, Mosby- Year Book, 1998, pp 1425-1448 8. Tolete-Velcek F, Hansbrough F, Kugaczevski J, et al: Uterovaginal malformations— A trap for the unsuspecting surgeon. J Pediatr Surg 8:736-740, 1989
¨ NS¸ AR ET AL GU
9. Pen˜ a A: Anorectal malformations. Semin Pediatr Surg 4:35-47, 1995 10. Sheldon CA, Gilbert A, Lewis AG: Vaginal reconstruction— Critical technical principles. J Urol 152:190-195, 1994 11. Hitchcock RJ, Malone PS: Colovaginoplasty in infants and children. Br J Urol 73:196-199, 1994 12. Gluer S, Mildenberger H: Feminizing genital reconstruction, sigmoid vaginal replacement and anorectoplasty as a one stage procedure for anorectal atresia associated with ambiguous genitalia. Eur J Pediatr Surg 9:121-123, 1999