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A case of Currarino's syndrome presenting as neonatal bowel obstruction
Journal of Pediatric Surgery (2012) 47, 1600–1603
www.elsevier.com/locate/jpedsurg
Case reports
A case of Currarino's syndrome presenting as neonatal bowel obstruction Prabhu Sekaran, Nicola Brindley ⁎ Department of Surgical Paediatrics, Royal Hospital For Sick Children, Yorkhill, G3 8SJ, Glasgow, United Kingdom Received 28 September 2011; revised 24 April 2012; accepted 1 May 2012
Key words: Sacral defect; Anorectal malformation; Presacral mass; Currarino's syndrome
Abstract We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal defect. The proband's eldest sister is also affected with features of Currarino's syndrome but was diagnosed later in life. The proband, his sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36. © 2012 Elsevier Inc. All rights reserved.
We describe our experience with an infant who presented with bowel obstruction secondary to Currarino's syndrome. The purpose of this article is to highlight the significance of this rare anomaly, along with a brief literature review.
1. Case report A male infant was born at term by emergency cesarean delivery with a birth weight of 3.08 kg. He has 2 sisters, although the older sister has a different father. Postnatally, he failed to pass meconium and developed gross abdominal distension by day 2. Examination showed a normally placed anus and a nontender but distended abdomen. The anus was too small for digital examination and calibrated to a size 6 Hegar dilator. An abdominal x-ray was performed, which showed dilated loops of bowel and a scimitar-shaped sacrum (Fig. 1). A lower gastrointestinal contrast study showed ⁎ Corresponding author. Tel.: +44 1412010182; fax: +44 1412010858. E-mail address: [email protected] (N. Brindley). 0022-3468/$ – see front matter © 2012 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2012.05.017
anal stenosis and a dilated rectum (Fig. 2). Ultrasound of the pelvis and lumbar spine showed that the conus terminated at L3 with spinal cord tethering into a heterogonous mass at about S3. This presacral mass was suggestive of a teratoma. The α-fetoprotein level was 126,770 KU/L (reference range, 2-50 KU/L). A massively distended rectosigmoid was identified at a subsequent laparotomy, and defunctioning stomas were created in the sigmoid colon. Colonic and rectal biopsies showed normal ganglion cells. Further imaging was performed postoperatively using spinal magnetic resonance imaging scan and identified a presacral mass measuring 1 × 1 cm (Fig. 3). The filum terminale was thought to be tethered, but there was no evidence of Arnold-Chiari malformation. The scimitar sacrum had absence of the fourth and fifth sacral elements. At 2 months of age, he had his presacral mass resected, and his anal stenosis repaired via a posterior sagittal approach. The anus was identified using a Pena muscle stimulator and shown to be central within the sphincter muscle complex. A midline incision was made from the sacrum to the posterior
Currarino's syndrome as neonatal bowel obstruction
Fig. 1
1601
Pelvic radiograph showing a scimitar sacrum.
anal margin. The posterior parasagittal fibers were scanty and were subsequently divided, and the presacral mass was identified and excised completely. The mass extended up into the thecal sac. An anorectoplasty was performed to ensure an adequate caliber anorectum. The posterior parasagittal muscle fibers were then reapproximated. Histopathologic evaluation of the presacral mass identified a benign mature sacral cystic teratoma. He made an uneventful postoperative recovery and, after stoma closure, had normal bowel function. However, he is now showing evidence of a neuropathic bladder because he is experiencing bladder dysfunction with episodes of urinary retention requiring intermittent catheterization. We feel that this is possibly owing to the underlying congenital sacral defect affecting the development of the pelvic autonomous system and altering bladder outflow rather than it being of iatrogenic cause. A urodynamic review has been planned as part of his longer term follow-up. There has been no recurrence of his tumor.
Fig. 3 Magnetic resonance imaging showing a presacral mass (arrowed).
The constellation of anal stenosis, partial sacral agenesis, and a presacral mass was felt to be consistent with Currarino's syndrome. The patient's older sister had been treated for constipation as a toddler. She had a delayed diagnosis because she was initially managed with laxatives. When her constipation failed to resolve, she underwent further investigations and was identified to have the following anomalies: a scimitar shaped sacrum, a benign sacrococcygeal teratoma, a tethered spinal cord, and recurrent urinary tract infections owing to vesicoureteric reflux; so, she also has features of Currarino's syndrome. The youngest sister is healthy without symptoms of constipation. Genetic review of the proband and family was sought, and he, his eldest sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36, associated with Currarino's syndrome.
2. Discussion
Fig. 2
Contrast enema showing anal stenosis (arrowed).
The association of a sacral defect, presacral mass, and an anorectal malformation was initially reported by Kennedy in 1926 [1] and subsequently by Cohn and Bay-Nielsen in 1969 [2]. However, the association has become known as Currarino's triad (or syndrome) owing to 3 cases reported by Currarino et al 1981 [3]. This condition is rare with approximately 200 cases being reported in the literature [4-6]. The pathogenesis of this condition is unclear. Currarino et al suggested that the presacral mass could develop owing to the split notochord theory of Bentley [7]. In their original
1602 report, he identified 3 infants with a presacral mass, which included a meningocele, a teratoma, and an enteric cyst. They suggested that failure of resorption of the fistula created between the endoderm and the neural ectoderm could lead to a presacral mass composed of an anterior meningocele or an enteric cyst [3]. More recently, it has been proposed that the malformations arise through a failure of separation of the caudal eminence from the hindgut endoderm during late gastrulation [8]. A mouse model of Currarino's syndrome has been achieved by Liu et al [9], and they suggested that abnormal differentiation of the tail bud mesenchyme leads to defects of the hindgut and the caudal neural tube. This abnormal mesenchymal mass blocks normal descent of the dorsal cloaca throughout the most posterior part of the cloacal membrane. This can subsequently lead to fistula formation in an anorectal malformation. A meningocele or a teratoma forms in the mesenchymal mass [9]. Cohn and Bay-Nielsen suggested that this condition was inherited by an X-linked defect [2]. However, more recent reports perhaps suggest an autosomal dominant pattern of inheritance [6,10]. It has also been shown to be linked to abnormalities of chromosome 7q36 caused by a mutation in the HLXB9 homeobox gene. This is believed to be important in normal sacral and anorectal development [11]. A screening tool is required to identify affected family members given its genetic basis. Iinuma et al [5] reported a male patient with Currarino's syndrome, and they used pelvic x-rays as a screening tool to identify 3 further family members with incomplete forms of the syndrome. All 3 were asymptomatic and had a scimitar-shaped sacrum but no other features of the syndrome. They suggested that screening of affected patients' family members must include a pelvic xray in addition to genetic screening because only 30% of sporadic cases of Currarino's syndrome express the HLXB9 mutation. If any family members have a sacral anomaly, then they should have further imaging as necessary to identify any other features of the syndrome [4]. More than 60% of reported cases have a family history of Currarino's syndrome–associated anomalies [4]. The presentation of Currarino's syndrome is varied, ranging from neonatal bowel obstruction to childhood constipation, meningitis, and urinary tract infection [4,6]. Most patients present later in childhood with intractable constipation (such as the elder sister in this family) requiring further investigation. A neonatal diagnosis as in this case is rare. Martucciello et al [12] have underlined that the variability of the presentation is dependent on the variable expression of the associated malformations. In their series, all their patients had a late diagnosis despite the presence of an anorectal malformation in 6 and a presacral mass in 5. They have also identified that, in their series, approximately half of their cases had abnormalities of the enteric nervous system—2 children had Hirschsprung disease [12]. Diagnosis is made by clinical examination and radiologic evaluation (plain x-ray and magnetic resonance imaging) to
P. Sekaran, N. Brindley identify the sacral anomaly and presacral mass. Reports identify that approximately half of all patients have a urogenital abnormality including septated uterus and vagina, hydroneprosis, and vesicoureteric reflux. A renal tract and pelvic ultrasound should be mandatory [6]. Defunctioning sigmoid colostomy appears a reasonable option for bowel obstruction and a deferred surgery to excise the presacral mass and repair the anorectal anomaly. The presacral mass and anorectum may be approached through a posterior sagittal, abdominal, or combined approach [6,1214], and neurosurgical intervention may be required if preoperative imaging has identified a meningocele [4]. Currarino's syndrome has great phenotypic variability, and Martucciello et al [12] have tried to address this by differentiating the syndrome according to complete, mild, and minimal features. The complete form expressing all 3 key features as in the case of our patient; the mild form may only have 2 features, as in the case of the patient's sister; and the minimal form refers to the asymptomatic individual who may have only a sacral anomaly identified on x-ray [12]. In addition, Martucciello et al suggested that the definition of Currarino's syndrome should be extended to include dysganglionoses as a fourth feature of this condition [12]. The importance of recognizing this syndrome lies in identifying the etiology of the presacral mass because a teratoma can have malignant potential. A mortality of 30% has been reported in cases of Currarino's syndrome managed without surgery [15]. The presence of a sacral anomaly in a child with constipation should alert the clinician to associated anomalies, and we would advise further diagnostic imaging and referral to an appropriate pediatric surgical unit. Genetic review of other family members should be mandatory, and screening using a pelvic x-ray should be offered.
References [1] Kennedy RLJ. An unusual rectal polyp; anterior sacral meningocele. Surg Gynecol Obstet 1926;43:803. [2] Cohn J, Bay-Nielsen E. Hereditary defect of the sacrum and coccyx with anterior sacral menigocele. Acta Pediatr Scand 1969;58:268-74. [3] Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. Am J Roentgenol 1981;137:395-8. [4] Samuel M, Hosie G, Holmes K. Currarino triad—diagnostic dilemma and a combined surgical approach. J Pediatr Surg 2000;35:1790-4. [5] Iinuma Y, Iwafuchi M, Uchiyama M, et al. A case of Currarino triad with familial sacral bony deformities. Pediatr Surg Int 2000;16:134-5. [6] Zia-ul-Miraj M, Brereton RJ. Currarino's triad: an unusual cause of constipation in children. Pediatr Surg Int 1998;13:437-9. [7] Bentley JFR, Smith JR. Developmental posterior enteric malformations; the split notochordal syndrome. Arch Dis Child 1960;35:76-86. [8] Dias MS, Azizkhan RG. A novel embryogenetic mechanism for Currarino's triad: inadequate dorsoventral separation of the caudal eminence from hindgut endoderm. Pediatr Neurosurg 1998;28:223-9. [9] Liu Y, Sugiyama F, Yagami K, et al. Sharing of the same embryogenic pathway in anorectal malformations and anterior sacral myelomeningocele formation. Pediatr Surg Int 2003;19:152-6.
Currarino's syndrome as neonatal bowel obstruction [10] Lynch SA, Wang Y, Strachan T, et al. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 2000;37:561-6. [11] Belloni E, Martucciello G, Verderio D, et al. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 2000;66:312-9. [12] Martucciello G, Torre M, Belloni E, et al. Currarino syndrome: proposal of a diagnostic and therapeutic protocol. J Pediatr Surg 2004;39:1305-11.
1603 [13] Baltogiannis N, Mavridis G, Soutis M, et al. Currarino triad associated with Hirschsprung's disease. J Pediatr Surg 2003;38:1086-9. [14] Lee SC, Chun YS, Jung SE, et al. Currarino triad: anorectal malformation, sacral bone abnormality, and presacral mass—a review of 11 cases. J Pediatr Surg 1997;32:58-61. [15] O'Riordain DS, O'Connell PR, Kirwan WO. Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad. Br J Surg 1991;78:536-8.
www.elsevier.com/locate/jpedsurg
Case reports
A case of Currarino's syndrome presenting as neonatal bowel obstruction Prabhu Sekaran, Nicola Brindley ⁎ Department of Surgical Paediatrics, Royal Hospital For Sick Children, Yorkhill, G3 8SJ, Glasgow, United Kingdom Received 28 September 2011; revised 24 April 2012; accepted 1 May 2012
Key words: Sacral defect; Anorectal malformation; Presacral mass; Currarino's syndrome
Abstract We describe a male infant presenting in the neonatal period with bowel obstruction who had features of anal stenosis, a presacral teratoma, and a sacral anomaly consistent with Currarino's syndrome. Initial management involved a defunctioning colostomy followed by a posterior sagittal excision of the teratoma and repair of the anorectal defect. The proband's eldest sister is also affected with features of Currarino's syndrome but was diagnosed later in life. The proband, his sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36. © 2012 Elsevier Inc. All rights reserved.
We describe our experience with an infant who presented with bowel obstruction secondary to Currarino's syndrome. The purpose of this article is to highlight the significance of this rare anomaly, along with a brief literature review.
1. Case report A male infant was born at term by emergency cesarean delivery with a birth weight of 3.08 kg. He has 2 sisters, although the older sister has a different father. Postnatally, he failed to pass meconium and developed gross abdominal distension by day 2. Examination showed a normally placed anus and a nontender but distended abdomen. The anus was too small for digital examination and calibrated to a size 6 Hegar dilator. An abdominal x-ray was performed, which showed dilated loops of bowel and a scimitar-shaped sacrum (Fig. 1). A lower gastrointestinal contrast study showed ⁎ Corresponding author. Tel.: +44 1412010182; fax: +44 1412010858. E-mail address: [email protected] (N. Brindley). 0022-3468/$ – see front matter © 2012 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2012.05.017
anal stenosis and a dilated rectum (Fig. 2). Ultrasound of the pelvis and lumbar spine showed that the conus terminated at L3 with spinal cord tethering into a heterogonous mass at about S3. This presacral mass was suggestive of a teratoma. The α-fetoprotein level was 126,770 KU/L (reference range, 2-50 KU/L). A massively distended rectosigmoid was identified at a subsequent laparotomy, and defunctioning stomas were created in the sigmoid colon. Colonic and rectal biopsies showed normal ganglion cells. Further imaging was performed postoperatively using spinal magnetic resonance imaging scan and identified a presacral mass measuring 1 × 1 cm (Fig. 3). The filum terminale was thought to be tethered, but there was no evidence of Arnold-Chiari malformation. The scimitar sacrum had absence of the fourth and fifth sacral elements. At 2 months of age, he had his presacral mass resected, and his anal stenosis repaired via a posterior sagittal approach. The anus was identified using a Pena muscle stimulator and shown to be central within the sphincter muscle complex. A midline incision was made from the sacrum to the posterior
Currarino's syndrome as neonatal bowel obstruction
Fig. 1
1601
Pelvic radiograph showing a scimitar sacrum.
anal margin. The posterior parasagittal fibers were scanty and were subsequently divided, and the presacral mass was identified and excised completely. The mass extended up into the thecal sac. An anorectoplasty was performed to ensure an adequate caliber anorectum. The posterior parasagittal muscle fibers were then reapproximated. Histopathologic evaluation of the presacral mass identified a benign mature sacral cystic teratoma. He made an uneventful postoperative recovery and, after stoma closure, had normal bowel function. However, he is now showing evidence of a neuropathic bladder because he is experiencing bladder dysfunction with episodes of urinary retention requiring intermittent catheterization. We feel that this is possibly owing to the underlying congenital sacral defect affecting the development of the pelvic autonomous system and altering bladder outflow rather than it being of iatrogenic cause. A urodynamic review has been planned as part of his longer term follow-up. There has been no recurrence of his tumor.
Fig. 3 Magnetic resonance imaging showing a presacral mass (arrowed).
The constellation of anal stenosis, partial sacral agenesis, and a presacral mass was felt to be consistent with Currarino's syndrome. The patient's older sister had been treated for constipation as a toddler. She had a delayed diagnosis because she was initially managed with laxatives. When her constipation failed to resolve, she underwent further investigations and was identified to have the following anomalies: a scimitar shaped sacrum, a benign sacrococcygeal teratoma, a tethered spinal cord, and recurrent urinary tract infections owing to vesicoureteric reflux; so, she also has features of Currarino's syndrome. The youngest sister is healthy without symptoms of constipation. Genetic review of the proband and family was sought, and he, his eldest sister, and the mother have been identified to have the HLXB9 mutation mapped to chromosome 7q36, associated with Currarino's syndrome.
2. Discussion
Fig. 2
Contrast enema showing anal stenosis (arrowed).
The association of a sacral defect, presacral mass, and an anorectal malformation was initially reported by Kennedy in 1926 [1] and subsequently by Cohn and Bay-Nielsen in 1969 [2]. However, the association has become known as Currarino's triad (or syndrome) owing to 3 cases reported by Currarino et al 1981 [3]. This condition is rare with approximately 200 cases being reported in the literature [4-6]. The pathogenesis of this condition is unclear. Currarino et al suggested that the presacral mass could develop owing to the split notochord theory of Bentley [7]. In their original
1602 report, he identified 3 infants with a presacral mass, which included a meningocele, a teratoma, and an enteric cyst. They suggested that failure of resorption of the fistula created between the endoderm and the neural ectoderm could lead to a presacral mass composed of an anterior meningocele or an enteric cyst [3]. More recently, it has been proposed that the malformations arise through a failure of separation of the caudal eminence from the hindgut endoderm during late gastrulation [8]. A mouse model of Currarino's syndrome has been achieved by Liu et al [9], and they suggested that abnormal differentiation of the tail bud mesenchyme leads to defects of the hindgut and the caudal neural tube. This abnormal mesenchymal mass blocks normal descent of the dorsal cloaca throughout the most posterior part of the cloacal membrane. This can subsequently lead to fistula formation in an anorectal malformation. A meningocele or a teratoma forms in the mesenchymal mass [9]. Cohn and Bay-Nielsen suggested that this condition was inherited by an X-linked defect [2]. However, more recent reports perhaps suggest an autosomal dominant pattern of inheritance [6,10]. It has also been shown to be linked to abnormalities of chromosome 7q36 caused by a mutation in the HLXB9 homeobox gene. This is believed to be important in normal sacral and anorectal development [11]. A screening tool is required to identify affected family members given its genetic basis. Iinuma et al [5] reported a male patient with Currarino's syndrome, and they used pelvic x-rays as a screening tool to identify 3 further family members with incomplete forms of the syndrome. All 3 were asymptomatic and had a scimitar-shaped sacrum but no other features of the syndrome. They suggested that screening of affected patients' family members must include a pelvic xray in addition to genetic screening because only 30% of sporadic cases of Currarino's syndrome express the HLXB9 mutation. If any family members have a sacral anomaly, then they should have further imaging as necessary to identify any other features of the syndrome [4]. More than 60% of reported cases have a family history of Currarino's syndrome–associated anomalies [4]. The presentation of Currarino's syndrome is varied, ranging from neonatal bowel obstruction to childhood constipation, meningitis, and urinary tract infection [4,6]. Most patients present later in childhood with intractable constipation (such as the elder sister in this family) requiring further investigation. A neonatal diagnosis as in this case is rare. Martucciello et al [12] have underlined that the variability of the presentation is dependent on the variable expression of the associated malformations. In their series, all their patients had a late diagnosis despite the presence of an anorectal malformation in 6 and a presacral mass in 5. They have also identified that, in their series, approximately half of their cases had abnormalities of the enteric nervous system—2 children had Hirschsprung disease [12]. Diagnosis is made by clinical examination and radiologic evaluation (plain x-ray and magnetic resonance imaging) to
P. Sekaran, N. Brindley identify the sacral anomaly and presacral mass. Reports identify that approximately half of all patients have a urogenital abnormality including septated uterus and vagina, hydroneprosis, and vesicoureteric reflux. A renal tract and pelvic ultrasound should be mandatory [6]. Defunctioning sigmoid colostomy appears a reasonable option for bowel obstruction and a deferred surgery to excise the presacral mass and repair the anorectal anomaly. The presacral mass and anorectum may be approached through a posterior sagittal, abdominal, or combined approach [6,1214], and neurosurgical intervention may be required if preoperative imaging has identified a meningocele [4]. Currarino's syndrome has great phenotypic variability, and Martucciello et al [12] have tried to address this by differentiating the syndrome according to complete, mild, and minimal features. The complete form expressing all 3 key features as in the case of our patient; the mild form may only have 2 features, as in the case of the patient's sister; and the minimal form refers to the asymptomatic individual who may have only a sacral anomaly identified on x-ray [12]. In addition, Martucciello et al suggested that the definition of Currarino's syndrome should be extended to include dysganglionoses as a fourth feature of this condition [12]. The importance of recognizing this syndrome lies in identifying the etiology of the presacral mass because a teratoma can have malignant potential. A mortality of 30% has been reported in cases of Currarino's syndrome managed without surgery [15]. The presence of a sacral anomaly in a child with constipation should alert the clinician to associated anomalies, and we would advise further diagnostic imaging and referral to an appropriate pediatric surgical unit. Genetic review of other family members should be mandatory, and screening using a pelvic x-ray should be offered.
References [1] Kennedy RLJ. An unusual rectal polyp; anterior sacral meningocele. Surg Gynecol Obstet 1926;43:803. [2] Cohn J, Bay-Nielsen E. Hereditary defect of the sacrum and coccyx with anterior sacral menigocele. Acta Pediatr Scand 1969;58:268-74. [3] Currarino G, Coln D, Votteler T. Triad of anorectal, sacral, and presacral anomalies. Am J Roentgenol 1981;137:395-8. [4] Samuel M, Hosie G, Holmes K. Currarino triad—diagnostic dilemma and a combined surgical approach. J Pediatr Surg 2000;35:1790-4. [5] Iinuma Y, Iwafuchi M, Uchiyama M, et al. A case of Currarino triad with familial sacral bony deformities. Pediatr Surg Int 2000;16:134-5. [6] Zia-ul-Miraj M, Brereton RJ. Currarino's triad: an unusual cause of constipation in children. Pediatr Surg Int 1998;13:437-9. [7] Bentley JFR, Smith JR. Developmental posterior enteric malformations; the split notochordal syndrome. Arch Dis Child 1960;35:76-86. [8] Dias MS, Azizkhan RG. A novel embryogenetic mechanism for Currarino's triad: inadequate dorsoventral separation of the caudal eminence from hindgut endoderm. Pediatr Neurosurg 1998;28:223-9. [9] Liu Y, Sugiyama F, Yagami K, et al. Sharing of the same embryogenic pathway in anorectal malformations and anterior sacral myelomeningocele formation. Pediatr Surg Int 2003;19:152-6.
Currarino's syndrome as neonatal bowel obstruction [10] Lynch SA, Wang Y, Strachan T, et al. Autosomal dominant sacral agenesis: Currarino syndrome. J Med Genet 2000;37:561-6. [11] Belloni E, Martucciello G, Verderio D, et al. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 2000;66:312-9. [12] Martucciello G, Torre M, Belloni E, et al. Currarino syndrome: proposal of a diagnostic and therapeutic protocol. J Pediatr Surg 2004;39:1305-11.
1603 [13] Baltogiannis N, Mavridis G, Soutis M, et al. Currarino triad associated with Hirschsprung's disease. J Pediatr Surg 2003;38:1086-9. [14] Lee SC, Chun YS, Jung SE, et al. Currarino triad: anorectal malformation, sacral bone abnormality, and presacral mass—a review of 11 cases. J Pediatr Surg 1997;32:58-61. [15] O'Riordain DS, O'Connell PR, Kirwan WO. Hereditary sacral agenesis with presacral mass and anorectal stenosis: the Currarino triad. Br J Surg 1991;78:536-8.