Currarino Syndrome Research Articles

Meta-analysis of Genetic Factors Responsible for Syndromic Anorectal Malformations in Children

Aim Anorectal malformation (ARM) is a congenital malformation that affects the anus or rectum area in children with an average age of 4 years. Different types of ARM are observed in males and females, each with distinct characteristics. The malformation is generally detected in the postnatal period, with a mortality rate between 3% and 16%. The study is conducted to understand the clinical significance of the mutation in the genes that are responsible for enhanced incidences of syndromes and their direct correlation with ARM. Methods Meta-analysis was performed using MedCalc statistical software, and we explored a strong association between ARM and syndromes using an odds ratio with a 95% confidence interval (CI). Results In total, 18 syndromes were found with the clinical characteristics of ARM. A maximum number of cases were reported about Currarino syndrome, with the minimum and maximum association of 30% and 100%, respectively. The results obtained for the pooled studies were I2 = 92.85%, P value ≤ .0001, and CI = 91.36-94.08. Conclusion A strong association has been identified between ARM and various congenital syndromes, highlighting the fact that genetic factors play a significant role in its occurrence. This association can help in the early diagnosis of the anomaly so that proper management can be presented at the earliest.

Non-Syndromic and Syndromic Defects in Children with Extracranial Germ Cell Tumors: Data of 2610 Children Registered with the German MAKEI 96/MAHO 98 Registry Compared to the General Population.

GCTs are developmental tumors and are likely to reflect ontogenetic and teratogenetic determinants. The objective of this study was to identify syndromes with or without congenital anomalies and non-syndromic defects as potential risk factors. Patients with extracranial GCTs (eGCTs) registered in MAKEI 96/MAHO 98 between 1996 and 2017 were included. According to Teilum's holistic concept, malignant and benign teratomas were registered. We used a case-control study design with Orphanet as a reference group for syndromic defects and the Mainz birth registry (EUROCAT) for congenital anomalies at birth. Co-occurring genetic syndromes and/or congenital anomalies were assessed accordingly. Odds ratios and 95% confidence intervals were calculated and p-values for Fisher's exact test with Bonferroni correction if needed. A strong association was confirmed for Swyer (OR 338.6, 95% CI 43.7-2623.6) and Currarino syndrome (OR 34.2, 95% CI 13.2-88.6). We additionally found 16 isolated cases of eGCT with a wide range of syndromes. However, these were not found to be significantly associated following Bonferroni correction. Most of these cases pertained to girls. Regarding non-syndromic defects, no association with eGCTs could be identified. In our study, we confirmed a strong association for Swyer and Currarino syndromes with additional congenital anomalies.

Long-term (> 10years) bowel function of anorectal malformations: a retrospective single-center study.

To describe the long-term bowel function of anorectal malformation (ARM) patients and explore the potential influence factors. ARM patients with follow-up data > 10years were included. Cases of cloaca, Currarino syndrome, and VACTERL syndrome were excluded. Rintala score and PedsQL 4.0 were used to assess bowel function score (BFS) and quality of life (QoL). Based on the results, patients were divided into satisfactory group with BFS ≥ 17 and unsatisfactory group with it < 17. Comparisons between the groups were made. Among the 81 patients were 44 males and 37 females. Follow-up time was 138 (126,151) months. 16 (19.75%) patients had associated anomalies. 23 (28.40%) patients had reoperations, and fistula recurrence was the most common reason. BFS of the patients was 20 (18,20). QoL score was 100 (100,100), which correlated positively with BFS (r = 0.648, P < 0.001). The satisfactory and the unsatisfactory groups had 69 and 12 cases, and their BFS were 20 (20,20) and 11 (8,15) respectively, which had statistical difference (P < 0.001). Total QoL score and psycho-social health score of the unsatisfactory group were lower (P < 0.001). Only reoperations were statistically different between the groups (P < 0.001). Long-term (> 10years) bowel function of ARM patients is good in this study. Defecation problems have negative impacts on QoL and mainly affects their psycho-social health. Primary anorectoplasty is extremely important. Reoperations, which are most commonly seen in recto-urethral fistula recurrence, adversely affect the outcome.

Can Anorectal Stenosis be Managed With Dilations Alone? A PCPLC Review

PurposeCongenital anorectal stenosis is managed by dilations or operative repair. Recent studies now propose use of dilations as the primary treatment modality to potentially defer or eliminate the need for surgical repair. We aim to characterize the management and outcomes of these patients via a multi-institutional review using the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) registry. MethodsA retrospective database review was performed using the PCPLC registry. The patients were evaluated for demographics, co-morbidities, diagnostic work-up, surgical intervention, current bowel management, and complications. Results64 patients with anal or rectal stenosis were identified (57 anal, 7 rectal) from a total of 14 hospital centers. 59.6% (anal) and 42.9% (rectal) were male. The median age was 3.2 (anal) and 1.9 years (rectal). 11 patients with anal stenosis also had Currarino Syndrome with 10 of the 11 patients diagnosed with a presacral mass compared to only one rectal stenosis with Currarino Syndrome and a presacral mass. 13 patients (22.8%, anal) and one (14.3%, rectal) underwent surgical correction. Nine patients (8 anal, 1 rectal) underwent PSARP. Other procedures performed were cutback anoplasty and anterior anorectoplasty. The median age at repair was 8.4 months (anal) and 10 days old (rectal). One patient had a wound complication in the anal stenosis group. Bowel management at last visit showed little differences between groups or treatment approach. ConclusionThe PCPLC registry demonstrated that these patients can often be managed successfully with dilations alone. PSARP is the most common surgical repair chosen for those who undergo surgical repair. Level of EvidenceIII.

First case report of caudal regression syndrome in a Syrian patient with unusual clinical presentation

Agenesis of the sacrum, lumbar and thoracic vertebrae, is a congenital malformation, associated with other complex genetic syndromes. Sacral agenesis is the partial, or total absence of lower vertebral bodies, can occur isolated or in association with other syndromes including spinal cord anomaly such as (VACTREL syndrome, and Currarino triad).1 The incidence of sacral agenesis is 1/50 000 in general population but is 200 times more frequent in infants of diabetic mothers.2 Usually, children with sacral agenesis have dysmorphic features; to note that around 20% of the cases are undetected until the age of 3- 4 years old and many are diagnosed after unsuccessful toilet training. One of the rarest congenital disorders is “Caudal regression syndrome” that affects the distal spinal segments and result in sequelae on the development of the spinal cord. This syndrome has a low incidence in general population, it is characterized by lower limbs deformities with sensory and motor loss, along with neurogenic bladder however, intelligence is conserved. The exact etiology is vague, yet there is an obvious relation with maternal diabetes. Also, the true cause is still unknown, some theories, state the role of genetic factors, hypoperfusion, and teratogens in the pathogenesis of this syndrome. Treatment is mostly supportive, and multidisciplinary. Prenatal imaging studies allow for consistent detection and diagnosis. The physical exam and the diagnostic test required in the newborn period help in the detection of probable complications and establishing a prognosis. We present a clinical case of a girl with a diagnosis of Caudal regression syndrome, describing the workup and management of this patient.

Treatment Strategy for Currarino Syndrome Complicated With Anorectal Stenosis.

The present study aimed to review the treatment experience and outcomes of Currarino syndrome (CS) complicated with anorectal stenosis to evaluate the current treatment strategies. Seven cases of CS complicated with anorectal stenosis, treated at our hospital between 1998 and 2021, were retrospectively investigated. This is a case series article from a single institution. In six and three cases and one case, the presacral mass was a mature teratoma, meningocele, and lipoma, respectively. Resection of the lesion was performed in all six cases of mature teratoma, and duraplasty was performed before resection in all three cases of meningocele. Moreover, surgery for anorectal stenosis was performed simultaneously in four patients. Surgery was performed for six cases of anorectal stenosis, with the remaining case relieved by dilation using a metal bougie. The surgical methods used were a partial resection with end-to-end anastomosis, anorectal strictureplasty, pull-through, posterior sagittal anorectoplasty, and cutback after mass resection. Pathological analysis of the anorectal stenoses revealed disorganized and rough smooth muscle fibers and the replacement of the stroma by an increased quantity of collagen fibers. The clinical outcomes of CS can be improved by establishing a treatment flow chart and understanding the complicated pathophysiology of the disease.

Managing Recurrent Teratoma in Currarino Syndrome

Managing Recurrent Teratoma in Currarino Syndrome

A Surgical Case of Currarino Syndrome with Syringomyelia

Currarino syndrome is characterized by a triad of anorectal malformations, sacral defects, and presacral masses. Although it is not extremely rare, this report presents a surgical case of Currarino syndrome with syringomyelia and discusses related literature. The patient is a girl, aged 2 years and 2 months, who presented with marked constipation, chronic cystitis, and lower limb weakness. After examining the patient through magnetic resonance imaging, we diagnosed her with rectal compression due to meningocele and syringomyelia. The base of the meningocele was detached, and the spinal cord was untethered. One week after surgery, her lower limb weakness and constipation improved. Following up on symptoms and performing imaging is essential to determine a treatment plan for Currarino syndrome. (Received 28 February, 2023; Accepted 22 March, 2023; Published 1 August, 2023).

Incomplete Currarino triad in an adult woman

Introduction: Currarino Syndrome (CS) is a rare entity characterized by a triad of sacral agenesis, anorectal malformations, and pre-sacral masses. CS is typically diagnosed during the first decade of life.&#x0D; Case Description: We present a rare case of incomplete Currarino syndrome manifesting in a 36-year-old lady who presented with back pain, urinary retention, anal paresthesia, and lower limb weakness. The patient underwent multiple laminectomies and partial resection of an epidermoid cyst and regained function.&#x0D; Conclusion: Although rare, the possibility of Currarino syndrome should be entertained in adult patients with lower lumbosacral symptoms and a pre-sacral mass. A thorough physical examination and strategic pre-operative planning are mandatory to maximize patient outcomes.

Selection of operative approach in children with Currarino syndrome

To summarize the experience of surgical treatment of children diagnosed with Currarino syndrome, with an emphasis on the selection of an optimal operative approach. The clinical materials of patients diagnosed with Currarino syndrome were recorded. Special attention was given to the operative management, particularly the different routes for operation. The type of ARM was the critical point. The Rintala score was used for the evaluation of bowel function. The medical records of 26 patients were reviewed. Seven were male, and 19 were female, with a mean age of 19.38 ± 13.80months. The standard posterior sagittal approach (SPS) group included three perineal fistulae, one anal stenosis, one retraction of the rectum after anoplasty for vestibular fistula, one ARM with no fistula, one rectourethral fistula, and one cloaca. In the limited posterior sagittal approach (LPS) group, there were 13 perineal fistulae, one displacement of the rectum, and one retraction of the rectum after anoplasty for the vestibular fistula. In addition, the transanal approach (TA) and anterior sagittal approach (AS) were also used. The mean follow-up time was 39.48 ± 26.84m. The Rintala score was 16.74 ± 2.93. For a perineal fistula, SPS or LPS should be used to reach anoplasty and remove the presacral mass. For a vestibular fistula, the AS or LPS should be chosen. For anal stenosis, SPS or LPS should be used.

P321: Expanding the phenotypic spectrum of Currarino syndrome with cardiac anomalies

P321: Expanding the phenotypic spectrum of Currarino syndrome with cardiac anomalies

Vertical wound closure following sacrococcygeal teratoma excision: an approachable aesthetic solution

BackgroundSacrococcygeal teratoma is a rare tumour, usually presenting in the neonatal period. The benign nature of most tumours and the high survival rates would emphasise on the importance of both cosmetic and functional outcomes.We report on our extended experience with more cases concentrating on the aesthetic outcome of vertical wound closure following excision of large irregular sacrococcygeal tumours.The study included primary cases of sacrococcygeal teratoma who were referred to our surgical team for excision. Cases of presacral tumours associated with anorectal anomalies and sacral bony defects (Currarino triad) were excluded. In all cases, we planned for a vertical midline wound closure after tumour excision. The aesthetic outcomes are evaluated concerning the vertical midline scar, buttock’s contour, and position of the anus.ResultsIn addition to twelve previously reported cases (during the period 2011 through 2016), we included another ten new consecutive cases operated during the period 2017 through 2021. Collectively, the study included 22 cases of sacrococcygeal teratoma that underwent vertical perineal wound closure after excision of the tumour. In 13 cases (those with relatively small or medium-sized tumours), the perineal wound was perfectly closed in the midline (well-hidden vertical scar in the natal cleft). For the rest of the cases (9 cases with large and/or irregular sacrococcygeal tumours), some modification was applied on the vertical linear mid-line skin closure to accommodate for skin redundancy and irregularity at the lower end of the wound, usually ending with an ‘inverted-Y’ skin closureConclusionVertical wound closure was always feasible after excision of sacrococcygeal teratomas. Even with large and irregular tumours, the vertical scar was perfectly or partially hidden within the natal cleft. Usually, there was adequate buttock development with minimal disturbance to the normal anal location within the perineum.

Presacral mature cystic teratoma associated with Currarino syndrome in an adolescent with androgen insensitivity: illustrative case

Currarino syndrome is a rare disorder that classically presents with the triad of presacral mass, anorectal malformation, and spinal dysraphism. The presacral mass is typically benign, although malignant transformation is possible. Surgical treatment of the mass and exploration and repair of associated dysraphism are indicated for diagnosis and symptom relief. There are no previous reports of Currarino syndrome in an androgen-insensitive patient. A 17-year-old female patient presented with lack of menarche. Physical examination and laboratory investigation identified complete androgen insensitivity. Imaging analysis revealed a presacral mass lesion, and the patient was taken to surgery for resection of the mass and spinal cord untethering. Intraoperative ultrasound revealed a fibrous stalk connecting the thecal sac to the presacral mass, which was disconnected without the need for intrathecal exploration. The presacral mass was then resected, and pathological analysis revealed a mature cystic teratoma. Postoperatively, the patient recovered without neurological or gastrointestinal sequelae. Diagnosis of incomplete Currarino syndrome may be difficult but can be identified via work-up of other disorders, such as androgen insensitivity. Intraoperative ultrasound is useful for surgical decision making and may obviate the need for intrathecal exploration during repair of dysraphism in the setting of Currarino syndrome.

Meningitis secondary to rectothecal fistula associated with congenital anterior meningocele

Meningitis secondary to rectothecal fistula is an exceptionally rare phenomena which has previously been reported exclusively in the setting of Currarino Syndrome for the pediatric population. We describe the case of a neonate presenting with polymicrobial meningitis due to rectothecal communication via congenital anterior sacral meningocele in the absence of an anorectal malformation. The authors opted for expeditious surgical resection of the fistulous tract and closure of the thecal sac using a posterior sagittal approach to the presacral space. The patient completed a course of intravenous antibiotics postoperatively. This case highlights the first reported neonatal case of rectothecal fistula in the absence of an anorectal anomaly. The surgical approach is described.

Differences in postoperative complications and prognosis of sacrococcygeal teratoma and presacral tumors in Currarino syndrome

BackgroundWhile sacrococcygeal teratoma (SCT) is a tumor originating from the tip of the sacrum, presacral tumors are accompanied by Currarino syndrome (CS) and classified as the Altman’s type IV sacrococcygeal tumors. They are quite different in their pathologies despite the similar location. To the best of our knowledge, there are no published reports comparing their prognosis; therefore, we analyzed their postoperative results and long-term prognosis. Twenty patients with SCT, including CS, who were being followed up at the outpatient clinic of the Department of Pediatric Surgery, Miyagi Children's Hospital between 2004 and 2020, were enrolled in the study. Patients were divided into two groups: those who developed SCT without anorectal malformation and sacral dysplasia, and those who developed presacral tumors with anorectal malformation or sacral dysplasia as CS. Patient records were retrospectively reviewed for clinical details, postoperative complications, and long-term prognosis.ResultsTethered cord syndrome occurred significantly more frequently in the CS group (p = 0.0108). However, no significant differences were observed for malformations other than tethered cord syndrome. Early complications in the CS group were significantly higher than those in the SCT group (p = 0.023); the most common complication was dysuria. Regarding long-term prognosis, 70% of patients in the CS group complained of defecation disorders, which was significantly higher than that in the SCT group (p = 0.0198). Voiding dysfunction was also more common in the CS group.ConclusionsThere were significant differences between SCT and CS regarding the rate of development of tethered cord syndrome, short-term postoperative complications, and long-term prognosis. Thus, they are different diseases with the only commonality being the presence of a sacrococcygeal tumor. Furthermore, this study indicated that the background and prognosis of the two conditions were also quite different.

Currarino triad with a duplicate anal canal presenting with an infected sacral mass

Currarino syndrome is a rare congenital malformation characterised by the triad of: an anorectal malformation, sacral bony defect and presacral mass. One rare but possible anorectal malformation is an anal canal duplication, a congenital anomaly which is not only the most distal but also the rarest form of digestive tract duplication. We present the case of a four-year-old female who had a complete form of the Currarino triad including an anal canal duplication.

Currarino triad.

Currarino triad is an autosomal dominant hereditary condition, characterized by triad of sacral agenesis abnormalities, anorectal malformation and presacral mass consisting of teratoma, anterior sacral meningocele or both. It is caused by mutations in the MNX1 gene. We present a case of a 2-year-old male child, brought by his mother with complaints of abdominal distension, failure to pass urine/faeces for 6 days. On examination, swelling of size 4x3cm was seen in the sacrococcygeal region. Magnetic resonance imaging (MRI) of abdomen and pelvis showed large cystic multi lobulated mass in sacrococcygeal region with dural communication evident of an anterior sacral meningocele. One month later, biopsy was done, which showed malignant mixed germ cell tumor in presacral area. Child underwent sacral partial laminectomy, laminoplasty and transdural ligation in neck of meningocele.

Characterization of complete Currarino syndrome in pediatrics-a comparison between CT and MRI.

BackgroundThis study sought to analyze the computed tomography (CT) and magnetic resonance imaging (MRI) characteristics of the classical triad elements and the associated anomalies in pediatric complete Currarino syndrome (CS) to evaluate the advantages and disadvantages of the 2 different imaging methods in displaying the abnormalities of this disease.MethodsThe clinical and radiological features of 32 pediatric patients with complete CS diagnosed histologically and/or radiologically were retrospectively analyzed.ResultsAll 32 complete CS patients presented with the classical triad of congenital anorectal malformation (ARM), sacral agenesis, and presacral mass. Anal atresia, which is the most common congenital ARM, was observed in 19 of the 32 patients (59.4%). Sacral agenesis was mainly type IV (75%). Among the presacral masses, true tumors and pseudotumors accounted for about half each. All of the 15 true tumors were presacral teratomas. Twenty-five patients had associated anomalies, including tethered cord, filum lipoma, and hydronephrosis. Twenty-four patients underwent both CT and MRI examinations. While CT was better than MRI in displaying sacral anomaly (P<0.05), MRI was more sensitive than CT at detecting presacral mass, spinal dysraphism, and congenital anal atresia (P<0.05).ConclusionsCT and MRI have different efficiencies at displaying the abnormalities of the complete CS. As a non-invasive method, MRI has significant advantages in diagnosing complete CS, especially in revealing the details of ARM, presacral mass, and associated spinal dysraphism.

Congenital musculoskeletal anomalies - key radiographic findings.

Although radiographs are generally performed in the neonatal period to evaluate for causes of respiratory distress or to evaluate line placement, close attention to the osseous structures can provide important clues to an underlying diagnosis. Although segmentation anomalies can be random, they are frequently associated with more complex entities such as VACTERL association. A butterfly vertebral body can hint at a possible diagnosis of Alagille syndrome even before jaundice develops in an infant with a murmur. Close evaluation of the sacrum can identify abnormalities that point to caudal regression or Currarino triad. Other classic musculoskeletal abnormalities in the extremities are readily apparent on physical exam but require radiographic evaluation to define anatomy. Diagnoses such as congenital pseudoarthrosis of the clavicle, Apert syndrome, constriction band syndrome, and proximal focal femoral deficiency have pathognomonic imaging findings. Given that treatment for these is usually delayed until later in life, extremity imaging might not occur in the neonatal period.

Currarino syndrome or Hirschsprung disease: how to prevent diagnostic dilemma in chronic constipation

BackgroundCurrarino syndrome is a rare congenital malformation having autosomal dominant inheritance. It comprises of anorectal malformation, presacral mass, and sacral vertebral defect occurring in variable proportion. The most common presentation is chronic constipation which is usually due to compression of rectum by anterior sacral mass. If clinical examination is not properly done and digital rectal examination is excluded from the examination, it can be misdiagnosed as other common cause of constipation like Hirschsprung disease.Case presentationWe are reporting one such case of one-and-half-year-old female child with chronic constipation which was initially managed as Hirschsprung disease, but later on, after a repeat clinical examination with digital rectal examination, it was evaluated on the line of Currarino syndrome. The diagnosis was confirmed by contrast-enhanced computed tomography of abdomen with 3 dimensional reconstruction. It was then managed by posterior sagittal approach with excision of mass and anorectoplasty.ConclusionA proper protocol for clinical evaluation of patient with constipation prevents diagnostic dilemma between surgical causes of constipation in pediatric age group. Digital rectal examination must be included in the protocol for evaluation of chronic constipation. In pediatric age group, clinical workup should be done with keeping in mind the rare diagnosis of Currarino syndrome along with common cause of constipation like Hirschsprung disease.