- Email: [email protected]
Currarino triad associated with hirschsprung’s disease
Currarino Triad Associated With Hirschsprung’s Disease By Nikolaos Baltogiannis, Georgios Mavridis, Michail Soutis, and Dimitrios Keramidas Athens, Greece
The Currarino syndrome is a rare hereditary condition. The major symptom is chronic constipation from early life, and, in more than 80% of the cases, this condition is diagnosed in the first decade. The authors describe an unusual case of a complete Currarino triad associated with Hirschsprung’s disease in a 6-year-old girl, presenting persistent constipation and abdominal distension. The patient is free of symptoms after surgical treatment of anorectal malformation and Hirschsprung’s disease. The presacral mass was excised.
Complete screening of the pelvis is recommended by using ultrasonography, computed tomography (CT) scan, and radiography in patients with a history of chronic constipation from early childhood. J Pediatr Surg 38:1086-1089. © 2003 Elsevier Inc. All rights reserved.
C
diagnosis of Hirschsprung’s disease in association with the Currarino syndrome. The presacral mass was identified histologically as hamartoma. On the second postoperative day, the patient complained of headaches, nausea, and orthostatic hypotension. In addition, clear spinal fluid was emerging from the wound. Magnetic resonance imaging showed a pseudomeningocele caused by presacral encapsulation of leaking spinal fluid (Fig 2). After 4 months, the patient was submitted to laparotomy through a suprapubic transverse incision. The cyst was removed, and a flap from the aponeurosis of the rectal muscle was used for patching the spinal defect. The patient was relieved of neurological symptoms after surgery. Three months later, the aganglionic rectum and the distal sigmoid were dealt with by using the Soave-Boley endorectal pull-through. The colostomy was closed after the latter operation. Two years after being discharged from the hospital, the child is continent and has normal bowel activity.
URRARINO’S TRIAD is a form of caudal regression syndrome, a hereditary condition that was first reported by Currarino et al in 1981.1 It is a rare complex of congenital caudal anomalies, and it was originally defined using the initials ASP: anorectal malformation, sacral bone deformity, and presacral tumor. In family members, one or 2 features of the syndrome may be missing, indicating an incomplete form of this complex.2-4 We describe an unusual case of a complete Currarino triad associated with Hirschsprung’s disease. CASE REPORT
A 6-year-old girl was admitted to the hospital with a history of persistent constipation since birth. The patient’s mother was a healthy 30-year-old woman who had a normal pregnancy. The mother had observed that the girl often suffered from pain during defecation. Family screening found 2 additional cases with incomplete Currarino syndrome. The patient’s father had been operated on for anorectal stenosis 25 years earlier. Her brother had a history of congenital anal stenosis, which was treated by anoplasty during infancy. Physical examination found a protuberant abdomen and an anterior ectopic anus with a narrow anal canal. A radiograph showed a sacral bone deformity (Fig 1). Because his general condition was deteriorating and progressing to intestinal obstruction, a laparotomy was performed, and a diverting trasversal colostomy was done. The postoperative course was uneventful, and 2 months later, a posterior sagittal anorectoplasty (PSARP) was performed, at which a 3- ⫻ 4-cm multilobar mass was seen in the presacral region. It was attached firmly to the dura matter emerging through a bone defect in the anterior sacral wall. The mass was removed completely. The rectum was tapered by removing a trigonal part of its posterior wall. A histopathologic examination of the rectal specimen showed absence of ganglion cells confirming the
INDEX WORDS: Currarino triad, Hirschsprung’s disease.
DISCUSSION
From the Department of Pediatric Surgery, “Aghia Sophia” Children’s Hospital, Athens, Greece. Address reprint requests to Nikolaos Baltogiannis, 11 Tirteou St, P. Faliro 17564, Athens, Greece. © 2003 Elsevier Inc. All rights reserved. 0022-3468/03/3807-0022$30.00/0 doi:10.1016/S0022-3468(03)00199-4
The Currarino triad belongs to the group of persistent neurenteric malformations. It consists of an anorectal malformation (anal atresia, anorectal stenosis, anal ectopia, imperforate anus, rectourethral fistula, rectovaginal fistula), sacral bone abnormality (with intact first sacral vertebra, “sickle-shaped sacrum”), and presacral mass (anterior meningocele, benign teratoma, lipoma, enteric cyst, dermoid cyst, any combination of these).1,3,4-6 Although this triad was described by Kennedy as early as 1926,7 it was not until 1981 that Currarino et al1 recognized these disorders as a syndrome complex derived from a common embryogenesis. Earlier, Ashcraft and Holder8 had reported a similar syndrome and emphasized the hereditary aspects. An extended definition of the syndrome is given by Janneck et al9 consisting of chronic constipation, sacral bony defect, and presacral mass. The Currarino syndrome has been recognized as an autosomal dominant inherited disease in about 50% of the patients.2,3,4,6,10 In family members, one or 2 features of the triad may be missing, suggesting either an incom-
1086
Journal of Pediatric Surgery, Vol 38, No 7 (July), 2003: pp 1086-1089
CURRARINO TRIAD AND HD
Fig 1. Anteroposterior radiograph of the pelvis: sacral bone deformity.
plete form of the syndrome or a variable gene penetrance.5,6,10-12 Among a group of malformations in which there is a persistent neurenteric communication, the Currarino syndrome represents the only association for which genetic evidence has been shown, mutations in the HLXB9 gene located in the 7q36 region.13-18 A review of the literature found more than 215 cases of this triad.3,6 In more than 80% of the cases, this complex was diagnosed in the first decade, whereas
1087
incomplete Currarino syndrome was diagnosed predominantly in adults.7,19-21 The association of Hirschsprung’s disease with anorectal malformations is believed to be very rare. The incidence was found to be 2.8% to 3.4%.22 Most of the reported cases in the literature were single case reports.23-28 The recognition of Hirschsprung’s disease often is delayed in children with anorectal malformations. Although Hirschsprung’s disease associated with anorectal malformations has been reported, this is the first case of Hirschsprung’s disease associated with Currarino triad. Several explanations have been reported for the embryogenesis of this triad. Currarino et al1 proposed that abnormal endoectodermal adhesions and notochordal defects in early fetal life result in a fistula between the gut and the spinal canal with enteric elements ventrally and neural elements dorsally. This entity would be a variant of the split notochord syndrome, presented by Bentley and Smith,29 which has more recently been named the split cord malformation.30 The combination of both enteric, neuroectodermal, and mesodermal elements would result in a teratoma, with partial regression, resulting in a meningocele, an enteric cyst, dermoid, or a combination of these.2,3,10,31,32 Modern day embryology refutes Currarino’s explanation of this disorder because it is now known that the inferior sacrum and the rectal elements are products of the caudal cell mass.31 Nevertheless, his
Fig 2. Magnetic resonance imaging of the sacral region. (a) Sagittal section: sacral bone deformity and pseudomeningocele. (b) Transverse section: pseudomeningocele.
1088
BALTOGIANNIS ET AL
observation on the gut and distal spinal cord was an important one in terms of recognition and better understanding of these abnormalities. The presentation of Currarino triad varies with the degree of anorectal and presacral abnormality. The leading feature is chronic constipation. In our case, constipation was caused by both the anterior ectopic and stenotic anus on one hand and the aganglionic rectum on the other hand. Several reports also have mentioned other symptoms and findings, such as recurrent perianal infections, urinary tract disorders, meningitis, low back pain, nausea, headache, and dystocia. These patients present with constipation of variable severity, which may result from a combination of compression by the mass, neurogenic dysfunction, and anal stenosis itself.3,5,6,10,12,33,34 The presacral tumor may be an anterior meningocele (68%), a benign teratoma (18%), an enteric cyst, a dermoid cyst, a lipoma, a leimyosarcoma, or, rarely as in our patient, a hamartoma. These pathologies in various combinations have been reported worldwide.3,4,10,33,35 If anorectal stenosis is identified in a child, the possibility of the other 2 components of the triad should be considered. Pelvic ultrasound scan, computed tomogra-
phy (CT) scan, and pelvic x-rays should be performed. Computed tomographic myelography and magnetic resonance imaging (MRI) are the supplementary imaging modalities of choice for confirming the diagnosis and clarifying the extent of anomalies.2,5,10,12,33,36,37 A correct diagnosis by a radiologist is important and may help the pediatric surgeon to interpret the family history and the associated anomalies to establish future surgical procedures.10 Treatment of the anorectal anomaly and presacral tumor can be performed by a one-step surgery, which consists of a posterior sagittal anorectoplasty (PSARP). PSARP is a well-established procedure for treating anorectal stenosis and high type imperforate anus and is an excellent approach for the excision of presacral mass simultaneously. We suggest that PSARP is the best choice of treatment for the Currarino triad. As in our case, this approach may reveal an undetected presacral tumor or other associated anomalies such as Hirschsprung’s disease. If the mass is a meningocele, a staged operation must be performed to decrease the risk of meningitis. The neurosurgical exploration should precede intestinal surgery.
REFERENCES 1. Currarino G, Colon D, Votteler T: Triad of anorectal, sacral, and presacral anomalies. Am J Radiol 137:395-398, 1981 2. Gudinchet F, Maeder P, Laurent T, et al: Magnetic resonance detection of myelodysplasia in children with Currarino triad. Pediatr Radiol 27:903-907, 1997 3. Ko¨ chling J, Pistor G, Ma¨ rzha¨ user Brands S, et al: The Currarino syndrome — Hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature. Eur J Pediatr Surg 6:114-119, 1996 4. Tander B, Baskin D, Bulut M: A case of incomplete Currarino triad with malignant transformation. Pediatr Surg Int 15:409-410, 1999 5. Kirks DR, Merten DF, Filston HC, et al: The Currarino triad: Complex of anorectal malformation, sacral bony abnormality, and presacral mass. Pediatr Radiol 14:220-225, 1984 6. Linuma Y, Iwafuchi M, Uchiyama M, et al: A case of Currarino triad with familiar sacral bony deformities. Pediatr Surg Int 16:134135, 2000 7. Kennedy RLJ: An unusual rectal polyp: Anterior sacral meningocele. Surg Gynecol Obstet 43:803-804, 1926 8. Ashcraft KW, Holder TM: Hereditary presacral teratoma. J Pediatr Surg 9:691-697, 1974 9. Janneck C, Holthusen W: Die Currarino triads. Beobachtung von 4 fallen. Z Kinderchir 43:112-116, 1988 10. Lee SC, Chun YS, Jung SE, et al: Currarino triad: Anorectal malformation, sacral bony abnormality, and presacral mass — A review of 11 cases. J Pediatr Surg 32:58-61, 1997 11. Gegg CA, Vollmer DG, Tullous MW, et al: An unusual case of the complete Currarino triad: Case report, discussion of the literature and the embryogenic implications. Neurosurgery 44:658-662, 1999 12. O’Riordain DS, O’Connell PR, Kirwan WO: Hereditary sacral agenesis with presacral mass and anorectal stenosis: The Currarino triad. Br J Surg 78:536-538, 1991 13. Heij HA, Moorman-Voestermans CGM, Vos A, et al: Triad of
anorectal stenosis, sacral anomaly and presacral mass: A remediable cause of severe constipation. Br J Surg 77:102-104, 1990 14. Masumo M, Imaizumi K, Aida N, et al: Currarino triad with a terminal deletion 7q35 3 qter. J Med Genet 33:877-878, 1996 15. Hagan DM, Ross AJ, Strachan T, et al: Mutation analysis and embryonic expression of the gene. HLXB9 Currarino syndrome. Am J Hum Genet 66:1504-1515, 2000 16. Belloni E, Martucciello G, Verdezio D, et al: Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 66:312-319, 2000 17. Seri M, Martucciello G, Paleani L, et al: Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment. Hum Genet 104:108-110, 1999 18. Lynch SA, Bond PM, Copp AJ, et al: A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 11:93-95, 1995 19. Kenefick JS: Hereditary sacral agenesis associated with presacral tumors. Br J Surg 60:271-274, 1973 20. Norum J, Wist E, Bostad L: Incomplete Currarino syndrome with a presacral leiomyosarcoma. Acta Oncologica 30:987-988, 1991 21. Tamayo JA, Arraez MA, Villegas I, et al: Partial Currarino syndrome in a non pediatric patient. A rare cause of bacterial meningitis. Neurologia 14:460-462, 1999 22. Holschneider AM, Pfrommer W, Gerresheim B: Results in the treatment of anorectal malformations with special regard to the histology of the rectal pouch. Eur J Pediatr Surg 4:303-309, 1994 23. Watanatittan S, Suwatanaviroj A, Limprutithum T: Association of Hirschsprung’s disease and anorectal malformation. J Pediatr Surg 26:192-195, 1991 24. Takada Y, Aoyama K, Goto T, et al: The association of imperforate anus and Hirschsprung’s disease in siblings. J Pediatr Surg 20:271-273, 1985 25. Stevenson JK, Herron PW: A rare cause of constipation in
CURRARINO TRIAD AND HD
patients following surgical correction of imperforate anus. Report of two cases. Am J Surg 33:555-558, 1967 26. Mahboubi S, Templeton JM Jr: Association of Hirschsprung’s disease and imperforate anus in a patient with ‘cat-eye’ syndrome. Pediatr Radiol 14:441-442, 1984 27. Kiesewetter WB, Sukarochana K, Sieber WK: The frequency of aganglionosis associated with imperforate anus. Surgery 58:877-880, 1965 28. Parkkulainen KV, Hjelt L, Sulamaa M: Anal atresia combined with aganglionic megacolon. Acta Chir Scand 118:252-256, 1960 29. Bentley JFR, Smith JR: Development posterior enteric remnants and spinal malformations: The split notochord syndrome. Arch Dis Child 35:76-86, 1960 30. Pang D, Dias MS, Anab-Barmada M: Split cord malformation: Part I-A unified theory of embryogenesis for double spinal cord malformations. Neurosurgery 31:451-480, 1992
1089
31. Gaskill SJ, Marlin AE: The Currarino triad: Its importance in pediatric neurosurgery. Pediatr Neurosurg 25:143-146, 1996 32. Walton M, Bass J, Soucy P: Tethered cord with anorectal malformation, sacral anomalies and presacral masses: an under-recognised association. Eur J Pediatr Surg 5:59-62, 1995 33. Ilhan H, Tokar B, Atasoy MA, et al: Diagnostic steps and staged operative approach in Currarino’s triad: A case report and review of the literature. Childs Nerv Syst 16:522-524, 2000 34. Quigley MR, Schinco F, Brown JT: Anterior sacral meningocele with an unusual presentation. J Neurosurg 61:790-792, 1984 35. Norum J, Wist E, Bostad L: Incomplete Currarino syndrome with a presacral leimyosarcoma. Acta Oncol 30:987-988, 1991 36. Pfluger T, Czekalla R, Koletzko S, et al: MRI and radiographic findings in Currarino’s triad. Pediatr Radiol 26:524-527, 1996 37. Riebel T, Maurer J, Teichgraber UK, et al: The spectrum of imaging in Currarino triad. Eur Radiol 9:1348-1353, 1999
The Currarino syndrome is a rare hereditary condition. The major symptom is chronic constipation from early life, and, in more than 80% of the cases, this condition is diagnosed in the first decade. The authors describe an unusual case of a complete Currarino triad associated with Hirschsprung’s disease in a 6-year-old girl, presenting persistent constipation and abdominal distension. The patient is free of symptoms after surgical treatment of anorectal malformation and Hirschsprung’s disease. The presacral mass was excised.
Complete screening of the pelvis is recommended by using ultrasonography, computed tomography (CT) scan, and radiography in patients with a history of chronic constipation from early childhood. J Pediatr Surg 38:1086-1089. © 2003 Elsevier Inc. All rights reserved.
C
diagnosis of Hirschsprung’s disease in association with the Currarino syndrome. The presacral mass was identified histologically as hamartoma. On the second postoperative day, the patient complained of headaches, nausea, and orthostatic hypotension. In addition, clear spinal fluid was emerging from the wound. Magnetic resonance imaging showed a pseudomeningocele caused by presacral encapsulation of leaking spinal fluid (Fig 2). After 4 months, the patient was submitted to laparotomy through a suprapubic transverse incision. The cyst was removed, and a flap from the aponeurosis of the rectal muscle was used for patching the spinal defect. The patient was relieved of neurological symptoms after surgery. Three months later, the aganglionic rectum and the distal sigmoid were dealt with by using the Soave-Boley endorectal pull-through. The colostomy was closed after the latter operation. Two years after being discharged from the hospital, the child is continent and has normal bowel activity.
URRARINO’S TRIAD is a form of caudal regression syndrome, a hereditary condition that was first reported by Currarino et al in 1981.1 It is a rare complex of congenital caudal anomalies, and it was originally defined using the initials ASP: anorectal malformation, sacral bone deformity, and presacral tumor. In family members, one or 2 features of the syndrome may be missing, indicating an incomplete form of this complex.2-4 We describe an unusual case of a complete Currarino triad associated with Hirschsprung’s disease. CASE REPORT
A 6-year-old girl was admitted to the hospital with a history of persistent constipation since birth. The patient’s mother was a healthy 30-year-old woman who had a normal pregnancy. The mother had observed that the girl often suffered from pain during defecation. Family screening found 2 additional cases with incomplete Currarino syndrome. The patient’s father had been operated on for anorectal stenosis 25 years earlier. Her brother had a history of congenital anal stenosis, which was treated by anoplasty during infancy. Physical examination found a protuberant abdomen and an anterior ectopic anus with a narrow anal canal. A radiograph showed a sacral bone deformity (Fig 1). Because his general condition was deteriorating and progressing to intestinal obstruction, a laparotomy was performed, and a diverting trasversal colostomy was done. The postoperative course was uneventful, and 2 months later, a posterior sagittal anorectoplasty (PSARP) was performed, at which a 3- ⫻ 4-cm multilobar mass was seen in the presacral region. It was attached firmly to the dura matter emerging through a bone defect in the anterior sacral wall. The mass was removed completely. The rectum was tapered by removing a trigonal part of its posterior wall. A histopathologic examination of the rectal specimen showed absence of ganglion cells confirming the
INDEX WORDS: Currarino triad, Hirschsprung’s disease.
DISCUSSION
From the Department of Pediatric Surgery, “Aghia Sophia” Children’s Hospital, Athens, Greece. Address reprint requests to Nikolaos Baltogiannis, 11 Tirteou St, P. Faliro 17564, Athens, Greece. © 2003 Elsevier Inc. All rights reserved. 0022-3468/03/3807-0022$30.00/0 doi:10.1016/S0022-3468(03)00199-4
The Currarino triad belongs to the group of persistent neurenteric malformations. It consists of an anorectal malformation (anal atresia, anorectal stenosis, anal ectopia, imperforate anus, rectourethral fistula, rectovaginal fistula), sacral bone abnormality (with intact first sacral vertebra, “sickle-shaped sacrum”), and presacral mass (anterior meningocele, benign teratoma, lipoma, enteric cyst, dermoid cyst, any combination of these).1,3,4-6 Although this triad was described by Kennedy as early as 1926,7 it was not until 1981 that Currarino et al1 recognized these disorders as a syndrome complex derived from a common embryogenesis. Earlier, Ashcraft and Holder8 had reported a similar syndrome and emphasized the hereditary aspects. An extended definition of the syndrome is given by Janneck et al9 consisting of chronic constipation, sacral bony defect, and presacral mass. The Currarino syndrome has been recognized as an autosomal dominant inherited disease in about 50% of the patients.2,3,4,6,10 In family members, one or 2 features of the triad may be missing, suggesting either an incom-
1086
Journal of Pediatric Surgery, Vol 38, No 7 (July), 2003: pp 1086-1089
CURRARINO TRIAD AND HD
Fig 1. Anteroposterior radiograph of the pelvis: sacral bone deformity.
plete form of the syndrome or a variable gene penetrance.5,6,10-12 Among a group of malformations in which there is a persistent neurenteric communication, the Currarino syndrome represents the only association for which genetic evidence has been shown, mutations in the HLXB9 gene located in the 7q36 region.13-18 A review of the literature found more than 215 cases of this triad.3,6 In more than 80% of the cases, this complex was diagnosed in the first decade, whereas
1087
incomplete Currarino syndrome was diagnosed predominantly in adults.7,19-21 The association of Hirschsprung’s disease with anorectal malformations is believed to be very rare. The incidence was found to be 2.8% to 3.4%.22 Most of the reported cases in the literature were single case reports.23-28 The recognition of Hirschsprung’s disease often is delayed in children with anorectal malformations. Although Hirschsprung’s disease associated with anorectal malformations has been reported, this is the first case of Hirschsprung’s disease associated with Currarino triad. Several explanations have been reported for the embryogenesis of this triad. Currarino et al1 proposed that abnormal endoectodermal adhesions and notochordal defects in early fetal life result in a fistula between the gut and the spinal canal with enteric elements ventrally and neural elements dorsally. This entity would be a variant of the split notochord syndrome, presented by Bentley and Smith,29 which has more recently been named the split cord malformation.30 The combination of both enteric, neuroectodermal, and mesodermal elements would result in a teratoma, with partial regression, resulting in a meningocele, an enteric cyst, dermoid, or a combination of these.2,3,10,31,32 Modern day embryology refutes Currarino’s explanation of this disorder because it is now known that the inferior sacrum and the rectal elements are products of the caudal cell mass.31 Nevertheless, his
Fig 2. Magnetic resonance imaging of the sacral region. (a) Sagittal section: sacral bone deformity and pseudomeningocele. (b) Transverse section: pseudomeningocele.
1088
BALTOGIANNIS ET AL
observation on the gut and distal spinal cord was an important one in terms of recognition and better understanding of these abnormalities. The presentation of Currarino triad varies with the degree of anorectal and presacral abnormality. The leading feature is chronic constipation. In our case, constipation was caused by both the anterior ectopic and stenotic anus on one hand and the aganglionic rectum on the other hand. Several reports also have mentioned other symptoms and findings, such as recurrent perianal infections, urinary tract disorders, meningitis, low back pain, nausea, headache, and dystocia. These patients present with constipation of variable severity, which may result from a combination of compression by the mass, neurogenic dysfunction, and anal stenosis itself.3,5,6,10,12,33,34 The presacral tumor may be an anterior meningocele (68%), a benign teratoma (18%), an enteric cyst, a dermoid cyst, a lipoma, a leimyosarcoma, or, rarely as in our patient, a hamartoma. These pathologies in various combinations have been reported worldwide.3,4,10,33,35 If anorectal stenosis is identified in a child, the possibility of the other 2 components of the triad should be considered. Pelvic ultrasound scan, computed tomogra-
phy (CT) scan, and pelvic x-rays should be performed. Computed tomographic myelography and magnetic resonance imaging (MRI) are the supplementary imaging modalities of choice for confirming the diagnosis and clarifying the extent of anomalies.2,5,10,12,33,36,37 A correct diagnosis by a radiologist is important and may help the pediatric surgeon to interpret the family history and the associated anomalies to establish future surgical procedures.10 Treatment of the anorectal anomaly and presacral tumor can be performed by a one-step surgery, which consists of a posterior sagittal anorectoplasty (PSARP). PSARP is a well-established procedure for treating anorectal stenosis and high type imperforate anus and is an excellent approach for the excision of presacral mass simultaneously. We suggest that PSARP is the best choice of treatment for the Currarino triad. As in our case, this approach may reveal an undetected presacral tumor or other associated anomalies such as Hirschsprung’s disease. If the mass is a meningocele, a staged operation must be performed to decrease the risk of meningitis. The neurosurgical exploration should precede intestinal surgery.
REFERENCES 1. Currarino G, Colon D, Votteler T: Triad of anorectal, sacral, and presacral anomalies. Am J Radiol 137:395-398, 1981 2. Gudinchet F, Maeder P, Laurent T, et al: Magnetic resonance detection of myelodysplasia in children with Currarino triad. Pediatr Radiol 27:903-907, 1997 3. Ko¨ chling J, Pistor G, Ma¨ rzha¨ user Brands S, et al: The Currarino syndrome — Hereditary transmitted syndrome of anorectal, sacral and presacral anomalies. Case report and review of the literature. Eur J Pediatr Surg 6:114-119, 1996 4. Tander B, Baskin D, Bulut M: A case of incomplete Currarino triad with malignant transformation. Pediatr Surg Int 15:409-410, 1999 5. Kirks DR, Merten DF, Filston HC, et al: The Currarino triad: Complex of anorectal malformation, sacral bony abnormality, and presacral mass. Pediatr Radiol 14:220-225, 1984 6. Linuma Y, Iwafuchi M, Uchiyama M, et al: A case of Currarino triad with familiar sacral bony deformities. Pediatr Surg Int 16:134135, 2000 7. Kennedy RLJ: An unusual rectal polyp: Anterior sacral meningocele. Surg Gynecol Obstet 43:803-804, 1926 8. Ashcraft KW, Holder TM: Hereditary presacral teratoma. J Pediatr Surg 9:691-697, 1974 9. Janneck C, Holthusen W: Die Currarino triads. Beobachtung von 4 fallen. Z Kinderchir 43:112-116, 1988 10. Lee SC, Chun YS, Jung SE, et al: Currarino triad: Anorectal malformation, sacral bony abnormality, and presacral mass — A review of 11 cases. J Pediatr Surg 32:58-61, 1997 11. Gegg CA, Vollmer DG, Tullous MW, et al: An unusual case of the complete Currarino triad: Case report, discussion of the literature and the embryogenic implications. Neurosurgery 44:658-662, 1999 12. O’Riordain DS, O’Connell PR, Kirwan WO: Hereditary sacral agenesis with presacral mass and anorectal stenosis: The Currarino triad. Br J Surg 78:536-538, 1991 13. Heij HA, Moorman-Voestermans CGM, Vos A, et al: Triad of
anorectal stenosis, sacral anomaly and presacral mass: A remediable cause of severe constipation. Br J Surg 77:102-104, 1990 14. Masumo M, Imaizumi K, Aida N, et al: Currarino triad with a terminal deletion 7q35 3 qter. J Med Genet 33:877-878, 1996 15. Hagan DM, Ross AJ, Strachan T, et al: Mutation analysis and embryonic expression of the gene. HLXB9 Currarino syndrome. Am J Hum Genet 66:1504-1515, 2000 16. Belloni E, Martucciello G, Verdezio D, et al: Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 66:312-319, 2000 17. Seri M, Martucciello G, Paleani L, et al: Exclusion of the Sonic Hedgehog gene as responsible for Currarino syndrome and anorectal malformations with sacral hypodevelopment. Hum Genet 104:108-110, 1999 18. Lynch SA, Bond PM, Copp AJ, et al: A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 11:93-95, 1995 19. Kenefick JS: Hereditary sacral agenesis associated with presacral tumors. Br J Surg 60:271-274, 1973 20. Norum J, Wist E, Bostad L: Incomplete Currarino syndrome with a presacral leiomyosarcoma. Acta Oncologica 30:987-988, 1991 21. Tamayo JA, Arraez MA, Villegas I, et al: Partial Currarino syndrome in a non pediatric patient. A rare cause of bacterial meningitis. Neurologia 14:460-462, 1999 22. Holschneider AM, Pfrommer W, Gerresheim B: Results in the treatment of anorectal malformations with special regard to the histology of the rectal pouch. Eur J Pediatr Surg 4:303-309, 1994 23. Watanatittan S, Suwatanaviroj A, Limprutithum T: Association of Hirschsprung’s disease and anorectal malformation. J Pediatr Surg 26:192-195, 1991 24. Takada Y, Aoyama K, Goto T, et al: The association of imperforate anus and Hirschsprung’s disease in siblings. J Pediatr Surg 20:271-273, 1985 25. Stevenson JK, Herron PW: A rare cause of constipation in
CURRARINO TRIAD AND HD
patients following surgical correction of imperforate anus. Report of two cases. Am J Surg 33:555-558, 1967 26. Mahboubi S, Templeton JM Jr: Association of Hirschsprung’s disease and imperforate anus in a patient with ‘cat-eye’ syndrome. Pediatr Radiol 14:441-442, 1984 27. Kiesewetter WB, Sukarochana K, Sieber WK: The frequency of aganglionosis associated with imperforate anus. Surgery 58:877-880, 1965 28. Parkkulainen KV, Hjelt L, Sulamaa M: Anal atresia combined with aganglionic megacolon. Acta Chir Scand 118:252-256, 1960 29. Bentley JFR, Smith JR: Development posterior enteric remnants and spinal malformations: The split notochord syndrome. Arch Dis Child 35:76-86, 1960 30. Pang D, Dias MS, Anab-Barmada M: Split cord malformation: Part I-A unified theory of embryogenesis for double spinal cord malformations. Neurosurgery 31:451-480, 1992
1089
31. Gaskill SJ, Marlin AE: The Currarino triad: Its importance in pediatric neurosurgery. Pediatr Neurosurg 25:143-146, 1996 32. Walton M, Bass J, Soucy P: Tethered cord with anorectal malformation, sacral anomalies and presacral masses: an under-recognised association. Eur J Pediatr Surg 5:59-62, 1995 33. Ilhan H, Tokar B, Atasoy MA, et al: Diagnostic steps and staged operative approach in Currarino’s triad: A case report and review of the literature. Childs Nerv Syst 16:522-524, 2000 34. Quigley MR, Schinco F, Brown JT: Anterior sacral meningocele with an unusual presentation. J Neurosurg 61:790-792, 1984 35. Norum J, Wist E, Bostad L: Incomplete Currarino syndrome with a presacral leimyosarcoma. Acta Oncol 30:987-988, 1991 36. Pfluger T, Czekalla R, Koletzko S, et al: MRI and radiographic findings in Currarino’s triad. Pediatr Radiol 26:524-527, 1996 37. Riebel T, Maurer J, Teichgraber UK, et al: The spectrum of imaging in Currarino triad. Eur Radiol 9:1348-1353, 1999