Follow-up of defecation, urination, growth and development in children with Currarino syndrome
Original Article

Follow-up of defecation, urination, growth and development in children with Currarino syndrome

Xinyue Tan1#, Guantong Li1#, Yuyan Jin1, Shuangshuang Li1, Yanan Zhang1, Junmin Liao1, Yangzhuo Zhang1, Jinshi Huang1,2

1Department of Neonatal Surgery, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China; 2Department of Neonatal Surgery, Jiangxi Provincial Children’s Hospital, Nanchang, China

Contributions: (I) Conception and design: X Tan, G Li, J Huang; (II) Administrative support: J Huang; (III) Provision of study materials or patients: S Li, Y Zhang, J Liao, J Huang; (IV) Collection and assembly of data: X Tan, G Li; (V) Data analysis and interpretation: Y Jin, Y Zhang; (VI) Manuscript writing: All authors; (VII) Final approval of manuscript: All authors.

#These authors contributed equally to this work.

Correspondence to: Jinshi Huang, MD. Department of Neonatal Surgery, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, No. 56 Nanlishi Road, Beijing 100045, China; Department of Neonatal Surgery, Jiangxi Provincial Children’s Hospital, Nanchang 330006, China. Email: hjsbch@163.com.

Background: Currarino syndrome (CS) is a rare congenital disorder associated with anorectal malformations (ARMs), presacral masses, and sacral dysplasia. While survival has improved, long-term functional and growth outcomes remain lacking in evaluation. This study aims to evaluate long-term defecation/urinary function and growth patterns in pediatric CS patients and to summarize infant treatment experience.

Methods: We conducted a retrospective analysis of 15 children with complete CS who underwent anoplasty between April 2015 and August 2024. Functional outcomes were assessed using Rintala scores and Dysfunctional Voiding Symptom Scores (DVSS) in children older than 4 years. Growth parameters were evaluated through Z-scores for weight, height, and body mass index (BMI) in children above 2 years. Additionally, we performed a systematic literature review, pooling data from 74 patients to analyze the impact of surgical timing on functional outcomes.

Results: At a mean follow-up of 67.9±37.6 months, the cohort demonstrated generally favorable functional outcomes (mean Rintala score: 16.3±3.0; median DVSS: 0). However, growth assessment revealed concerning trends, with mean Z-scores for weight, height, and BMI all below population norms (−0.42±1.30, −0.28±1.45, and −0.46±1.50, respectively). Age-stratified analysis indicated progressive deterioration in growth in older children. Additionally, pooled analysis of 89 patients showed that anoplasty within the first year of age was associated with a lower rate of defecation dysfunction (P=0.03).

Conclusions: Early anoplasty (within the first year) correlates with better defecation outcomes. Age-related growth faltering highlights the need for sustained nutritional surveillance.

Keywords: Currarino syndrome (CS); defecation function; urinary function; Z-scores; long-term outcomes


Submitted Feb 07, 2026. Accepted for publication Apr 08, 2026. Published online May 25, 2026.

doi: 10.21037/tp-2026-1-0153


Highlight box

Key findings

• Early anoplasty (within the first year) is associated with improved long-term defecation outcomes in Currarino syndrome (CS). Urinary function is largely preserved, with low Dysfunctional Voiding Symptom Scores and rare need for intervention.

• Growth faltering progresses with age, highlighting a previously underrecognized nutritional challenge.

What is known and what is new?

• CS requires surgical correction; long-term functional outcomes are variable.

• This study suggests an association between earlier anoplasty and better bowel outcomes, while also identifying age-related growth decline.

What is the implication, and what should change now?

• Structured follow-up, timely surgery when clinically feasible, and age-specific nutritional monitoring may be important in the long-term management of CS. Adopt a multidisciplinary follow-up model addressing both functional and growth outcomes.


Introduction

Currarino syndrome (CS) is a rare congenital malformation first described by Currarino et al. (1) in 1981, with an estimated incidence of 1–9/100,000 (2). The condition results from heterozygous loss-of-function mutations in the MNX1 gene, leading to variable phenotypic expression. Only a subset of cases presents with the complete diagnostic triad consisting of sacral dysplasia, presacral masses, and anorectal malformations (ARMs). The heterogeneous clinical manifestations frequently result in diagnostic challenges, with reported rates of misdiagnosis and underdiagnosis remaining substantial.

Although advances in medical technology have significantly improved survival rates among CS patients, postoperative defecation and urination dysfunction persist as significant clinical concerns. While previous studies have examined functional outcomes in CS patients, comprehensive evaluations of both functional outcomes and growth parameters following infant anoplasty remain limited.

This study retrospectively analyzed 15 CS patients who underwent anoplasty during infancy between April 2015 and August 2024. We conducted systematic assessments of postoperative complications (including bleeding, infection, various surgical side injuries within 14 days after the operation), defecation and urination function, and growth development. Through integration with existing literature, we aimed to evaluate long-term defecation/urinary function, as well as growth patterns, in pediatric CS patients, and to summarize the infant treatment experience. We present this article in accordance with the STROBE reporting checklist (available at https://tp.amegroups.com/article/view/10.21037/tp-2026-1-0153/rc).


Methods

Ethics approval and consent to participate

The study was conducted in accordance with the Declaration of Helsinki and its subsequent amendments. The study was approved by the Medical Ethics Committee of Beijing Children’s Hospital Affiliated with Capital Medical University (IEC-C-006-A04-V.07.1). The committee waived the requirement for written informed consent as the research involved the analysis of existing, fully anonymized data, presenting no more than minimal risk to participants.

Patient population and data collection

The present study was conducted on children admitted to the Department of Neonatal Surgery in Beijing Children’s Hospital from April 2015 to August 2024, who underwent anoplasty in our hospital. Inclusion criteria: (I) children diagnosed with complete CS presenting with “anorectal malformation”, “presacral mass”, and “sacral dysplasia”; (II) surgical intervention was performed in the neonatal surgery department of our hospital; (III) regular follow-up assessments post-treatment were conducted; (IV) parents exhibited normal understanding and communication skills; (V) informed consent was obtained from both the children and their families. Exclusion criteria: (I) children who were discharged but whose family members opted out of treatment for various reasons; (II) children who failed to receive regular follow-up due to changes in phone number or address.

Research methods

The medical records of the children with CS were meticulously reviewed, encompassing their general condition, clinical symptoms and treatment information from our institution. Follow-up with patients and their families was conducted through telephone, outpatient visits, or online questionnaires. For children under 4 years of age, gastrointestinal function was assessed through indicators such as constipation, soiling incidents, special dietary requirements, spontaneous urination patterns, the necessity for clean intermittent catheterization (CIC), pain during urination episodes, and the ability to remain dry between urination sessions. In contrast, for children aged over 4 years, defecation function was evaluated using the Rintala score scale, which ranges from 0 to 20. A total score of 17 or higher indicates good defecation function; a score between 12 and 16 reflects average defecation function; while a score below 12 signifies poor defecation function. Urinary function was assessed using the Dysfunctional Voiding Symptom Score (DVSS), where a score exceeding 8.5 suggests abnormal urinary function. The above scores are all based on the performance of the children in the past month during the follow-up (the intestinal manager will mark them with * in the table). Growth and development were assessed by measuring weight and height. The Z-score is used to assess the growth and development of CS children. Growth parameters were assessed using Z-scores for weight, height, and BMI. Z-scores were calculated based on the WHO Child Growth Standards [2006] for children under 5 years of age and the WHO Growth Reference Data for school-aged children and adolescents [2007] for those aged 5 years and older. The final follow-up period concluded on December 31st, 2024. A comprehensive search for English literature was conducted across PubMed, Ovid Embase, and Scopus electronic databases from their inception until March 2025 utilizing keywords such as “Currarino Syndrome” or “Currarino Triad”. We included both retrospective and prospective studies that reported on surgical ages and defecation functional outcomes related to ARMs while excluding non-clinical studies and basic science articles. In total, we identified 17 published reports. Further screening focused on patients with complete CS who had thorough surgical documentation and long-term prognostic data. When multiple follow-up time points were reported, the longest available follow-up was extracted to represent long-term functional outcome. Individuals lost to follow-up or who passed away during this period were excluded from the analysis. A total of 117 patients from these studies were included for qualitative synthesis of overall functional and complication outcomes. For the pooled analysis evaluating the impact of surgical timing on defecation function, we restricted the cohort to patients with complete data on age at anoplasty and postoperative defecation status, yielding a final analytic cohort of 89 patients (15 from our institution and 74 from the literature). To harmonize outcomes across studies, “defecation dysfunction” was defined as the presence of any of the following: constipation requiring medical intervention, fecal incontinence, soiling, or a Rintala score <17 (or equivalent assessment as reported by the original study). “Urinary dysfunction” was defined as any of the following: urinary incontinence, urinary retention, abnormal urodynamics, neurogenic bladder, vesicoureteral reflux, renal insufficiency, or a DVSS >8.5, as reported in the original study. Consequently, 74 patients from the literature were included in the pooled analysis.

Statistical analysis

Statistical analysis was performed using SPSS 27.0 statistical software. The count data were described using frequency (n) and percentage (%). The variables were tested for normality; those that followed a normal distribution were reported as mean ± standard deviation (SD), while those that did not conform to normal distribution were presented as medians with interquartile ranges. Continuous variables were analyzed using the t-test, and categorical variables were analyzed using the χ2 and Fisher’s exact tests. A P value of less than 0.05 was considered statistically significant. The growth and development trend of the patients was evaluated using Locally Estimated Scatterplot Smoothing. Spearman’s rank correlation test was used for exploratory correlation analyses between functional scores and growth Z-scores, with exact P values reported due to small sample size. No imputation was performed for missing data. All analyses were conducted on available cases, and the denominators for each analysis are reported accordingly.


Results

A total of 15 children with complete CS were included in this study (Table 1), with a gestational age ranging from 36 to 40 weeks and a median gestational age of 38 [38, 38] weeks. The mean birth weight was 3,025.33±566.47 g. Two children were born with intrauterine distress and Grade III amniotic fluid contamination, one with preterm rupture of membranes, and one with oligohydramnios. The proportion of females was 1.5 times higher than that of males, and the main complaint at the time of presentation was abnormal anal position, some of which were accompanied by abdominal distension and vomiting and constipation. Among the 15 children, ARMs included rectal perineal fistula (n=6), rectal vestibular fistula (n=2), rectal urethral fistula (n=2), rectal vesicovaginal fistula (n=1), rectal navicular fistula (n=1), anal atresia (n=1), cloacal malformations (n=1) and anal stenosis (n=1). Presacral masses included presacral spondylolisthesis (n=9), cystic mature sacrococcygeal teratoma (n=5), and presacral spinal cord bulge (n=2), with one child having a combination of spondylolisthesis and cystic mature sacrococcygeal teratoma (Figure 1). All of the children had sacral malformations of varying degrees. Eighty percent (12/15) of the children also had malformations of other systems, including cardiovascular malformations (n=5, 33.3%), urinary malformations (n=3, 20.0%), uterine-vaginal and other reproductive malformations (n=3, 20.0%), Skeletal deformity (n=2, 13.3%), and gastrointestinal malformations (n=4) [congenital megacolon in 2 (13.3%), esophageal atresia in 1 (6.7%), and Meckel’s diverticulum in 1 (6.7%)]. In addition, 9 patients (60.0%) had tethered cord syndrome (TCS). Among them, 6 cases underwent tethered cord release.

Table 1

Summary of the clinical and operative data of the 15 cases with CS

ID Gender Age (days) Type of ARM Presacral mass Sacral malformation Other malformations Tethered cord syndrome Complaint Age at anoplasty (days) Operative data
1 F 36 Rectoperineal fistula Anterior sacral meningocele Sacrococcygeal vertebral agenesis Congenital cleft palate/congenital clubfoot/syndactyly and polydactyly/congenital ear deformity/congenital rib deformity/lumbar laminectomy/thoracic spina bifida/congenital heart disease/subventricular cysts No No normal anus 42 ASARP
2 F 150 Rectoperineal fistula Anterior sacral meningocele Sacral laminae Meckel’s diverticulum Yes No normal anus 220 Ileostomy + Meckel’s diverticulectomy, PSARP+ presacral mass excision, ileostomy closure
3 M 2 Rectoperineal fistula Anterior sacral lipomyelomeningocele Sacral laminae Congenital heart disease Yes No normal anus 77 Colostomy, PSARP + presacral mass excision, colostomy closure
4 F 21 Rectovestibular fistula Anterior sacral meningocele Sacrococcygeal vertebral agenesis Esophageal atresia (Type V) No No normal anus 53 Colostomy, ASARP, repair of lipomyelocele, colostomy closure
5 F 34 Rectoperineal fistula Cystic mature teratoma Sacrococcygeal vertebral agenesis No No Vomiting and abdominal distension 43 PSARP + presacral mass excision
6 F 53 Rectovestibular fistula Cystic mature teratoma Sacral laminae Horseshoe kidney/Hirschsprung’s disease Yes Constipation 55 PSARP + presacral mass excision, spinal cord tethering release surgery, Soave procedure
7 M 3 Rectovestibular fistula Anterior sacral meningocele Sacral laminae Congenital heart disease Yes Vomiting and abdominal distension 53 Colostomy, PSARP, colostomy closure, repair of lipomyelocele + deterring surgery
8 M 103 Anal atresia Anterior sacral meningocele Sacral laminae No Yes No normal anus 111 Colostomy, LAARP, colostomy closure, repair of lipomyelocele + deterring surgery
9 F 95 Persistent cloaca Anterior sacral meningocele Sacral laminae Ovarian sliding hernia/double vagina and double uterus/congenital heart disease/horseshoe kidney No No normal anus 274 Colostomy, LAARP, colostomy closure, repair of lipomyelocele
10 M 45 Rectovesical fistula Anterior sacral meningocele Sacrococcygeal vertebral agenesis Umbilical ureteric cyst No No normal anus 48 Colostomy, PSARP, colostomy closure, presacral mass excision
11 M 1 Rectovesical fistula Cystic mature teratoma Sacral laminae Congenital heart disease No No normal anus 220 Colostomy, LAARP + presacral mass excision, colostomy closure
12 F 11 Rectoperineal fistula Cystic mature teratoma Sacral laminae Double vagina and double uterus Yes No normal anus and abdominal distension 25 Colostomy + ASARP, presacral mass excision, colostomy closure
13 F 10 Rectovestibular fistula Cystic mature teratoma Sacrococcygeal vertebral agenesis Bicornuate uterus Yes No normal anus 134 Colostomy, PSARP, colostomy closure, presacral mass excision
14 F 40 Rectoperineal fistula Anterior sacral meningocele Sacral laminae No Yes No normal anus 41 ASARP
15 M 16 Anal stenosis Anterior sacral myelomeningocele Sacral laminae Hallux valgus Yes Vomiting and abdominal distension 25 Soave procedure + ASARP, repair of lipomyelomeningocele + lipomyelomeningocele

ARM, anorectal malformation; ASARP, anterior sagittal anorectoplasty; CS, Currarino syndrome; F, female; ID, identification; LAARP, laparoscopic assisted anorectoplasty; M, male; PSARP, posterior sagittal anorectoplasty.

Figure 1 Varieties of sacral masses seen with CS. (A) Anterior sacral myelocele with cystic mature teratoma. (B) Anterior sacral lipomyelomeningocele. CS, Currarino syndrome.

In this study, 66.7% (10/15) of the children underwent a staged procedure with initial enterostomy (4 cases were referred to our hospital after an enterostomy performed elsewhere). Among these 10 staged cases, 4 underwent simultaneous anoplasty and presacral mass resection in the second stage, and 6 underwent anoplasty followed by delayed presacral mass resection. Another 20.0% (3/15) underwent anoplasty as the first stage followed by presacral resection in the second stage (also staged). Single-stage procedures (anoplasty with concurrent presacral mass resection) were performed in 13.3% (2/15) of the children. The median age at the time of the anoplasty was 53.0 (42.5, 122.5) days. There was only one perioperative complication, which manifested as cerebrospinal fluid leakage, and none of the children experienced postoperative infections. Three cases underwent concomitant spinal cord embolization and release concurrently with neurosurgical presacral spinal cord repair. Intraoperative pathological examination of the end of the rectum was routinely performed, revealing ganglion cell defects in two cases. All teratomas were confirmed to be mature cystic solid teratomas, and no malignant presacral masses were detected.

Fifteen children were followed up for a period ranging from 4.3 to 119.2 months after anoplasty, with a mean follow-up duration of 67.9±37.6 months. The mean age at follow-up was 71.1±37.5 months, 10 children were over 4 years of age, and 5 children were under 4 years of age. One case (ID 8) developed rectal mucosal prolapse at 69.6 months after anoplasty, which has now been treated. Another case (ID 13) experienced intestinal obstruction at 90.1 months after radical surgery, which has now been resolved. Among the five children under 4 years of age, 2 (40%) had constipation and required glycerin enemas to facilitate defecation. One of them had soiled pants almost daily. No child required prolonged intervention. There were 10 cases of children aged 4 years and above. Rintala scale indicated good defecation function in 7 cases (70%), fair in 2 cases (20%) and poor in 1 case (10%) with a mean score of 16.3±3.0. Among the three children with fair or poor scores, two frequently required glycerin enemas to facilitate defecation; 7 children sometimes soiled their pants or were incontinent (<1 time/week); 2 children experienced frequent soiled pants, more severe fecal incontinence, and difficulty in controlling bowel movements autonomously. The median score of DVSS was 0 (0, 3), of which 9 children (90%) had a normal voiding function, and 1 (10%) had an abnormal voiding function, as evidenced by leakage of urine, nocturnal bedwetting, and urgency to urinate. None of the children required CIC or urological surgery, and all had normal renal function (Table 2).

Table 2

Long-term follow-up results of 15 cases with CS

ID Weight (kg) Weight percentile (%) Height (cm) Height percentile (%) Unplanned reoperation Defecation function (<4 y: symptoms, ≥4 y: Rintala score) Urinary function (<4 y: symptoms, ≥4 y: DVSS score) Age at follow-up (months)
1 No Normal Normal 5.7
2 No Normal Normal 20.2
3 No Constipation, laxative therapy Normal 23.6
4 15 63.3 100 78.3 No Normal Normal 38.3
5 20 99.2 110 99.7 No Constipation, soiling, laxative therapy Normal 41.7
6 18 32.8 113 53.1 No 11 0 65.3
7 21 59.4 115 48.0 No 17 0 68.1
8 25 86.3 114 39.3 Rectal prolapse 12 0 73.3
9 18 2.0 109 0.0 No 17 0 91.6
10 22 23.0 120 19.1 No 19 4 87.3
11 25 20.8 130 33.4 No 19 0 102.9
12 30 75.1 137 83.0 No 20 0 104.1
13 35 94.5 135 73.7 Intestinal obstruction 14 7 103.8
14 29 33.3 140 53.1 No 17 0 120.5
15 26 9.9 135 27.4 No 17 11 119.3

, indicates that the child was still undergoing intestinal management (such as diet, medication, etc.) at the time of assessment. Rintala score range: 0–20, with 20 being the best. DVSS score range: 0–30, with 0 being the best. CS, Currarino syndrome; DVSS, Dysfunctional Voiding Symptom Score; y, years.

A study of 12 children aged over 2 years revealed heterogeneous growth patterns, with Z-scores ranging from −3.41 to +2.37. The mean height-for-age Z-score (HAZ) was −0.28±1.45, with one case of severe stunting (HAZ: −3.41) and two cases of above-average linear growth. The mean weight-for-age Z-score (WAZ) was −0.42±1.30, with 24.9% of the subjects classified as underweight. The BMI-for-age Z-score (BAZ) average was −0.46±1.50, and in particular, cases of concurrent overweight and wasting were observed. The investigation revealed distinct patterns of age-related disparities in growth. Among the 12 children aged over 2 years, the age distribution was as follows: [2, 4) years (n=4), [4, 6) years (n=2), [6, 8] years (n=2), and >8 years (n=4). Pediatric subjects within the 2–4 age bracket demonstrated above-average growth across all parameters (mean HAZ: +0.46; WAZ: +1.00). The 4–6 years group exhibited a decline in Z-scores across all measures. It was demonstrated that children aged between 6 and 8 years exhibited stability in linear growth; however, they continued to experience challenges concerning weight. The oldest cohort (>8 years) demonstrated the most significant growth faltering, particularly in weight-related measures (Figure 2). At the same time, an exploratory correlation analysis was performed to examine the relationship between functional outcomes and growth parameters in the 10 children aged over 4 years with complete data (n=10). Spearman’s rank correlation test revealed no statistically significant correlations between Rintala score (defecation function) and any of the growth Z-scores: HAZ (ρ=0.41, P=0.24), WAZ (ρ=0.04, P=0.92), or BAZ (ρ=–0.11, P=0.76). Similarly, no significant correlations were found between DVSS (urinary function) and HAZ (ρ=0.10, P=0.79), WAZ (ρ=0.11, P=0.76), or BAZ (ρ=0.02, P=0.95). Scatter plots are provided in Figure S1.

Figure 2 The growth and development trend of children with Currarino syndrome. BMI, body mass index.

A total of 89 patients, comprising the 15 patients from our institution and 74 (among them, the urination status was not evaluated in 5 cases, and the postoperative complications and unplanned reoperations were not evaluated in 18 cases) from the literature with available age-at-surgery data (Table 3), were included in the pooled analysis of surgical timing. The median age of 89 patients for the anoplasty was 11.0 (2.7, 27.0) months. Defecation dysfunction was present in 39.3% (35/89) of the children at follow-up, and urinary dysfunction (including urinary incontinence, urinary retention, abnormal urodynamics, neurogenic bladder, vesicoureteral reflux, or renal insufficiency) in 11.9% (10/84). The presence of postoperative complications and the presence of unplanned reoperation after surgery were both 11.3% (8/71). To assess potential confounding, we compared available baseline characteristics between the <1 year (n=46) and ≥1 year (n=43) surgery groups. The proportion of low‑type ARMs (73.9% vs. 90.7%, P=0.06) and median follow-up duration (48.0 vs. 73.0 months, P=0.06) did not differ significantly. However, not all original studies provided complete case descriptions; data on key confounders (sacral dysplasia severity, TCS, Hirschsprung disease, staged management) were severely incomplete, precluding reliable adjustment. Furthermore, the study found that the incidence of postoperative defecation dysfunction was significantly lower in children aged <1 year at the time of surgery than in children with CS aged ≥1 year at the time of surgery, P=0.03 (Table S1).

Table 3

Review of bowel and urological outcomes and other complications in CS

Series n Defecation dysfunction Urinary dysfunction Reason for reoperation Postoperative complications
2023 Harada et al. (3) 7 3 1 An additional incision retraction was performed for anorectal stenosis (n=1) Presacral surgical site infection (n=2)
2023 Pang et al. (4) 23 9 2 Recurrent presacral mass re-excision (n=3) Infected fistula (n=1)
2021 Sakurai et al. (5) 7 4 3 Residual re-excision of presacral tumors (n=1), incision and drainage of an abscess (n=1) Wound dehiscence (n=1), urethral injury (n=1), rectal injury (n=1), rectal abscess (n=1)
2020 Li et al. (6) 14 3 1 Mucosal resection for rectal prolapse (n=1), bilateral ureteral reimplantation (n=1) Presacral abscess (n=1), postoperative presacral hemorrhage (n=1), central nervous system infection (n=1)
2017 AbouZeid et al. (7) 17 5 5 No Cerebrospinal fluid leak (n=1), pelvic abscesses (n=2)
2017 Caro-Domínguez et al. (8) 2 0 2 A double subtrigonal teflon injection procedure for recurrent urinary tract infection (n=1) No
2014 Pio et al. (9) 7 4 1 No Perineal abscess (n=1)
2013 Ohno et al. (10) 2 2 0 No No
2010 Yoshida et al. (11) 5 3 1 Antegrade colonic enema via an appendicostomy (n=2) Retroperitoneal abscess (n=1)
2010 Isik et al. (12) 2 0 0 No No
2009 Garcia-Barceló et al. (13) 3 2 1 No No
2004 Martucciello et al. (14) 4 1 No No
2005 Mavridis et al. (15) 3 1
2000 Samuel et al. (16) 2 1 1 No No
1997 Lee et al. (17) 11 5 No
1991 O’Riordain et al. (18) 4 2 1 Recurrent presacral mass re-excision (n=1), urethral diversion surgery (n=1) Perianal abscess (n=1), central nervous system infection (n=1)
1990 Heij et al. (19) 4 1 0 Rectal stenosis dilatation (n=1) Cerebrospinal fluid leakage (n=1)
Total 39.3% (46/117) 19.2% (19/99) 13.6% (14/103) 15.8% (18/114)

The denominators represent the total number of patients reported in each study for the respective outcome. The comparative analysis of surgical timing was performed on a subset of 89 patients with complete age-at-surgery data, not on the total cohort shown in this table. CS, Currarino syndrome.


Discussion

The pathogenesis of the CS may be related to malformations in the caudal region of the embryo during early development. Defects in the caudal neural tube may lead to associated neurological abnormalities and affect the development of the hindgut structures, leading to ARMs (20); defects in the caudal notochord can affect sacral development (1); in addition, abnormalities in the migration of some ectodermal cells may lead to the formation of presacral masses (21), which ultimately result in the development of complete CS.

The typical triad of CS consists of ARMs, presacral masses, and sacral dysplasia. The ARMs in children with CS were mostly anorectal stenosis (22). However, our study observed rectoperineal fistula as the predominant malformation, with anal stenosis being observed in a single case. Another study pointed out that the type of ARM may be associated with ethnic factors (23). The study documented a higher prevalence of low malformations than high malformations, aligning with most existing studies. The majority of presacral masses were found to be anterior sacral meningocele or teratomas, which aligns with the results of the present study. Some studies have also indicated the potential for recurrence or deterioration of presacral masses, accounting for approximately 4% of all patients with CS (24). However, no relevant cases were identified in this study. It’s important to note that the age of patients experiencing recurrence has been reported to be significantly older than the average age of the children in this study. Therefore, early removal of presacral masses in children diagnosed with CS is crucial, and regular postoperative pelvic evaluations along with appropriate genetic testing are essential (23).

The preoperative symptoms observed in patients with CS vary significantly, with difficulties in defecation being one of the most common issues. Other symptoms may include abnormal urination, such as urinary retention or incontinence and sensory abnormalities in the lower extremities may also be the reason for a child with CS to be seen (25). Studies have shown that approximately 90% of children are diagnosed before the age of 3 years (26). In our study, all children were diagnosed at less than 1 year of age. The reason for most visits was the absence of a normal anus with or without abdominal distension and vomiting. Therefore, it is imperative to carefully examine the anus and perineum in newborns, focusing on the expulsion of meconium and any signs of abdominal distension. Early recognition of the symptoms is essential for accurate diagnosis, tailoring treatment plans and improving patient outcomes.

In addition, patients with CS are often accompanied by neural tube malformations (27). In this study, the proportion of CS patients with TCS was as high as 60%, which is consistent with findings from both domestic and international research (28). CS patients with TCS may experience sacrococcygeal sensory deficits, sensory or motor deficits in the lower extremities, gait abnormalities, anal sphincter dysfunction and focal neurologic deficits, all of which can further contribute to urination and defecation difficulties. In addition, combined circulatory malformations were the most prevalent findings in this study. Two cases required surgical intervention for tetralogy of Fallot (ToF) and a ventricular septal defect (VSD), respectively, while the majority of the children’s malformations resolved spontaneously. Therefore, echocardiography should be performed promptly upon the first diagnosis of CS. If relevant malformations are identified, a thorough assessment by cardiac surgery and anesthesiology teams should be conducted, and the sequence of surgical procedures should be determined based on the child’s clinical condition. Secondly, combined gastrointestinal malformations are also prevalent. We routinely conducted intraoperative pathological examinations of the fistula or the rectal end and found that two children exhibited ganglion cell deletion at the rectal terminus. This finding highlights the importance of performing intraoperative pathological assessments of the rectal end in patients with CS. In patients with CS, it is crucial to differentiate between Hirschsprung’s disease (HD) and secondary megacolon due to impaired bowel emptying caused by abnormal anal position or anal stenosis. This is essential to prevent misdiagnosis and to choose the appropriate treatment strategy. Treatment for secondary megacolon usually focuses on relieving the mechanical obstruction, conversely, HD may require more urgent surgical intervention. The disappearance of postoperative constipation symptoms may also lead to a delay in the diagnosis of HD, and no studies have revealed the mechanism of co-morbidity between CS and HD. In children with combined esophagotracheal malformations, esophageal anastomosis or gastrostomy should be performed first. Colostomy or anoplasty (in cases of low anal atresia) can be done simultaneously. In cases of significant abdominal distension, which severely affects respiration, it is advisable to perform an enterocutaneous fistula first to address defecation difficulties. An anoplasty should be performed in a limited period after correcting the esophageal tracheal malformation and once respiratory symptoms have improved.

Postoperative defecation problems in patients with CS typically include constipation, soiled pants and fecal incontinence. The incidence of constipation ranges from 16.7% to 40% (29), the incidence of soiled undergarments is 33.3%, and the incidence of fecal incontinence remains unreported. The overall incidence of constipation in this study is consistent with the findings of overseas studies. The higher rate of constipation and soiled pants in children under 4 years may be related to the young age of the children and the incomplete development of the nerves controlling defecation function. The overall prognosis of defecation function in children over 4 years was comparable to findings in other studies, with constipation or soiled pants as the primary manifestation. Two cases required treatment with glycerine enema or lactulose, and 1 case needed dietary management. There was only one case with a poor defecation function score, which was combined with HD. This case was manifested by frequent soiled pants, incontinence and requiring long-term use of pads. Eltayeb et al. (30) reported that 28% of postoperative patients with ARM combined with HD experienced poor defecation function scores. This suggests that CS patients with HD may have worse long-term postoperative defecation function, which is associated with a higher incidence of distal intestinal ganglion cell defects and complications after resection of the lesion length, such as anastomotic stricture and intestinal hypodynamics. These issues can result in the coexistence of functional and mechanical obstruction. Further review of CS cases revealed that in the unadjusted pooled analysis, the incidence of postoperative defecation dysfunction was significantly lower in children under 1 year old at the time of anoplasty compared to those aged 1 year or older. Some research has shown that children with ARM who undergo one-stage anoplasty in the neonatal period perform better long-term defecation function (31). This early intervention helps avoid enterostomy and reduces the number of surgeries. Moreover, early completion of an anoplasty will allow children to establish normal bowel habits and self-awareness sooner. It can also extend the bowel training time, strengthen cortical control of bowel reflexes, promote the development of nerve conduction pathways, and improve their ability to adapt to social life, thereby reducing the psychological burden caused by the problem of defecation. Based on the pooled analysis, anoplasty performed before 1 year of age was associated with lower rates of defecation dysfunction. When clinically feasible, early anoplasty may therefore be considered, although this finding requires confirmation through prospective studies with adjustment for disease severity. However, this finding should be interpreted with caution, given the retrospective nature of the included studies and the lack of adjustment for disease severity. A causal relationship cannot be established from the current data. In this study, one child underwent surgery for intestinal obstruction caused by constipation. This highlights the need to regulate bowel function, reduce fecal retention, and establish consistent bowel habits. We can employ various strategies, including dietary adjustments, defecation training and medication.

Compared with defecation function, urinary function has been less frequently assessed in national and international long-term prognostic studies. Some studies have suggested that children with CS who have abnormal voiding function primarily present with urgency, frequency and incontinence. The incidence of urinary incontinence ranges from about 14% to 36%, and neurogenic bladder occurs in 3.4% of cases (26). In our study, urinary function was assessed quantitatively using the DVSS score. Only one child had a DVSS score above 8.5 for both urgency and incontinence, which may be associated with TCS. None of the children had neurogenic bladder, vesicoureteral reflux or abnormal renal function. The overall prognosis for voiding function was better than in other studies. In the future, urodynamics should be performed in CS patients both preoperatively and postoperatively to clarify the impact of congenital anomalies and surgical treatment on urinary outcomes (32). For children with abnormal micturition function and combined genitourinary malformations, regular ultrasound and urodynamic studies of the urinary tract should be performed. Additionally, female CS patients should also be followed up with a distant gynecologic specialist to further focus on future sexual behavior and fertility.

No other study has assessed the long-term postoperative growth and development of children with CS. In this study, we evaluated the height and weight of children older than 2 years using Z-scores. The observed pattern of declining growth parameters with advancing age raises the possibility of cumulative nutritional challenges in CS. However, this finding is hypothesis-generating and should be interpreted with caution given the limited sample size in each age stratum and the potential confounding from associated comorbidities. The favorable growth patterns observed in early childhood (2–4 years of age) may be indicative of residual maternal nutritional support and more straightforward dietary management. The dramatic decline observed in school-aged children is likely to be a consequence of increasing disease-related complications and the transition to independent feeding. The poorest outcomes in children over the age of eight highlight the long-term nutritional burden of this condition, possibly exacerbated by pubertal development demands.

This study has several limitations. First, it is a single-center retrospective analysis with a small sample size and relatively short follow-up duration. Follow-up was conducted exclusively by telephone or online questionnaires, which may introduce recall bias and preclude physical examination for accurate anthropometrics or subtle functional signs. Functional outcomes relied solely on parent-reported instruments (Rintala score, DVSS), lacking objective physiological data such as anorectal manometry, urodynamic studies, or sacral ratio quantification—a particular concern given the 60% prevalence of TCS. Reproductive outcomes were not assessed due to patient age. Second, the pooled analysis of surgical timing was subject to considerable heterogeneity across included studies in outcome definitions, follow-up duration, surgical approaches, and reporting standards. Although composite definitions were applied to harmonize outcomes, residual heterogeneity persists. The comparison was based on a subset of 89 patients with complete data (while Table 3 presents aggregate totals from all reviewed studies), and the lack of adjustment for disease severity (e.g., sacral dysplasia, TCS, HD, staged procedures) due to incomplete reporting precludes causal inference. Third, the exploratory correlation analysis between functional scores and growth Z-scores was underpowered (n=10), so the absence of significant correlations does not exclude clinically meaningful relationships. Finally, the recommendation regarding surgical timing is based on unadjusted pooled analyses and should be considered exploratory rather than definitive practice guidance. Prospective, standardized, multicenter studies with objective functional assessments and longer follow-up are needed to confirm these hypothesis-generating findings.


Conclusions

Most children with CS exhibit a favorable prognosis regarding defecation and urinary function, particularly when radical anorectal surgery is performed before 1 year of age. Consequently, our findings suggest that performing radical anorectal surgery within the first year of life may be associated with improved postoperative defecation outcomes. When clinically feasible, early anoplasty can be considered, but this recommendation is based on observational data and requires confirmation in future prospective studies. In parallel, given the observed age-related decline in nutritional status, a proactive and age-stratified nutritional strategy is essential. Early childhood presents a critical window for preventive nutritional interventions, while school-age and adolescent patients require more intensive support to mitigate progressive growth faltering.


Acknowledgments

None.


Footnote

Reporting Checklist: The authors have completed the STROBE reporting checklist. Available at https://tp.amegroups.com/article/view/10.21037/tp-2026-1-0153/rc

Data Sharing Statement: Available at https://tp.amegroups.com/article/view/10.21037/tp-2026-1-0153/dss

Peer Review File: Available at https://tp.amegroups.com/article/view/10.21037/tp-2026-1-0153/prf

Funding: This study was supported by Beijing High Innovation Plan (No. 20250058), Jiangxi (Ganpo) Talent Program-Health Innovation Talent Project (No. gpyc20240208), Beijing Municipal Science & Technology Commission (No. Z211100002921062), and Beijing Municipal Natural Science Foundation (No. 7252043).

Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://tp.amegroups.com/article/view/10.21037/tp-2026-1-0153/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. The study was conducted in accordance with the Declaration of Helsinki and its subsequent amendments. The study was approved by the Medical Ethics Committee of Beijing Children’s Hospital Affiliated with Capital Medical University (IEC-C-006-A04-V.07.1). The committee waived the requirement for written informed consent as the research involved the analysis of existing, fully anonymized data, presenting no more than minimal risk to participants.

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Cite this article as: Tan X, Li G, Jin Y, Li S, Zhang Y, Liao J, Zhang Y, Huang J. Follow-up of defecation, urination, growth and development in children with Currarino syndrome. Transl Pediatr 2026;15(5):175. doi: 10.21037/tp-2026-1-0153

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