Imperforate Anus Research Articles

Relation between the internal anal sphincter and defecation disorders in patients with anorectal malformations.

To investigate associations between the rectoanal inhibitory reflex (RAIR), type of congenital anorectal malformations (ARMs), type of operation that patients with ARM had undergone, and objectively measured fecal incontinence and defecation problems. We retrospectively included 69 pediatric patients with ARM. All underwent anorectal function tests at the University Medical Center of Groningen during the last 10 years. We assessed anorectal physiology using the Rome IV criteria and anorectal function tests. We found the reflex in 67% of patients and all types of ARMs. All patients who had not been operated on, and those who had undergone less extensive surgery possessed the reflex. In contrast, patients who underwent posterior sagittal anorectoplasty, 44% possessed it. We found no difference between mean rectal volumes in patients with and without the reflex (251 vs. 325 mL, respectively, p = 0.266). We found that over time, patients without the reflex seemed to develop significantly higher rectal volumes than patients who had it. We did not find a significant difference between the reflex and fecal incontinence; however, it seems that the absence of the reflex, resting anal sphincter pressure, and fecal incontinence are related. The RAIR seems present in patients with ARM irrespective of their malformation type. Corrective surgery, however, may impair this reflex. Seemingly, its absence results in constipation with enlarged rectal volumes and fecal incontinence. Every effort should be made to preserve this reflex during surgery and to use extensive surgical procedures as sparingly as possible.

The effect of surgical reconstruction on bladder function in cloacal malformation: A study of urodynamics

Girls with cloacal malformation are at risk of bladder dysfunction, with nearly 90% exhibiting some degree of dysfunction. Surgical dissection, particularly with total urogenital mobilization (TUM), has been hypothesized as a cause of worsening bladder function despite this population commonly having associated vertebral and spinal cord abnormalities that may also explain bladder dysfunction. More recently there has been great effort to select the appropriate surgical technique for cloacal repair in each patient in order to minimize dissection and potential damage to the bladder. We aimed to evaluate the effect of surgical cloacal repair on bladder function based on pre and post-surgery urodynamics (UDS) testing. A prospectively collected database of patients with anorectal malformation at a single center was queried for girls with cloacal malformations who had undergone surgical repair from 2015 to 2022. It is our current protocol to perform UDS before and after cloacal repair. Only patients who completed both pre and post-surgery UDS were included. UDS were evaluated and classified using the UMPIRE protocol. A total of 48 patients were included in the cohort. The majority of patients (79.2%) had stable or improved UDS post-op leaving 10 patients (20.8%) who had worsening UDS. Long common channel (≥3cm) was the only factor significantly associated with worsening UDS. (p=0.03) Nearly 30% (n=8) of those undergoing UGS had worse post-op UDS compared to 9.5% (n=2) with TUM. All patients who worsened UDS initially had safe UDS that changed to intermediate, except for one who worsened to hostile in the setting of significant social challenges and non-compliance. Only common channel length was predictive of worsening UDS, while the type of surgical approach and spine status were not. While the overall risk of worsening UDS after TUM is only 9.5%, patients with normal spines undergoing TUM had the lowest risk, seen in only one in 15 patients (6.6%). Common channel length was the most significant predictor of worsening UDS, while spine status and surgical technique (TUM vs UGS) did not significantly impact this finding. By following this established surgical protocol based on common channel and urethral lengths, is rare for the surgical cloacal repair to result in worsening post-op UDS, particularly in those undergoing TUM for short common channel and normal spine.

Commentary- Bridging the Gap: The Impact of Bowel Management Programs on Daily Life in Pediatric Colorectal Disease

BackgroundThis commentary discusses the social impact of bowel management programs (BMPs) on children with colorectal diseases, including anorectal malformations (ARM), Hirschsprung disease (HD), functional constipation (FC), and spina bifida. Previous studies focused on functional outcomes, but this study bridges the gap to daily life experiences. MethodsThe study examined children's experiences in BMPs, focusing on school participation, vacation ability, and overall patient experience. Cleanliness, defined as fewer than one stool soiling episode per week, was achieved by 70% of participants. ResultsPositive patient experiences were linked to achieving stool cleanliness, regardless of the management method. Invasive methods like enemas did not negatively affect experiences if cleanliness was maintained. Validated patient-reported experience measures (PREMs) and patient-reported outcomes measures (PROMs) were used, though the median age of 8.9 years posed limitations. ConclusionThe commentary highlights the significance of stool cleanliness in improving patient experiences and supports the effectiveness of various BMP methods. Future research should include longitudinal follow-ups to assess BMP durability and gather data from older children.

Finnish Pediatric Surgery Hub – From Centralization to Collective Learning and Sharing of Expertise

Aim of the studyContinuous surgical developments, growing awareness of patient representatives and limited health-care resources are pushing for innovative approaches to ensure equal high-quality pediatric surgical care. We aimed to describe early experiences and assess surgical safety of a novel nationwide pediatric surgery collaborative initiative. MethodsIn 2021, general pediatric surgeons representing all five independent university hospitals performing neonatal surgery in Finland initiated national collaboration, the Finnish pediatric surgery hub (FPSH), for sharing of surgical expertise and collective learning. For each case addressed by FPSH, place of care and surgical team were decided individually, and when deemed necessary, operations were performed in cooperation. Operations performed during 2021–2023 and associated early (<30 days) postoperative complications were analyzed according to Clavien-Madadi classification. ResultsOf the total 40 surgeries managed co-operatively by FPSH, 30 (75%) took place in local university hospitals and 10 in Helsinki University Hospital. There were 34 (85%) elective and 6 urgent cases, which were operated within median 1 (range, 1–3) days. Most frequent underlying diagnoses included anorectal malformations, esophageal atresia and Hirschsprung disease. Overall, 12 (30%) had any early postoperative complications, all Clavien-Madadi grade IIIB or lower, and five patients (13%) were reoperated. Rate or grade of complications was not associated with place of care. In addition to regular virtual case meetings, national care protocols and research projects were introduced. ConclusionThese preliminary findings suggest that our national collaborative initiative, FPSH, not only provided practical and safe framework for sharing of surgical expertise but also for collective learning. Level of EvidenceIII.

Оптимізація хірургічного лікування природженого анального та ректального стенозів у дітей

Congenital anal (CAS) and rectal stenosis (CRS) are variants of anorectal malformations (ARM) in children. Aim - to evaluate the results of surgical correction of CAS and CRS, based on this, to develop the main tactical requirements for the treatment of this complex pathology in children. Materials and methods. The study included 18 children with congenital anorectal stenosis: 7 (38.9%) - with CAS, 11 (61.1%) - with CRS, which accounted for 11.7% of all treated anorectal anomalies (n=154). The ratio of boys to girls was 5:1. After complex diagnostics, in 44.4% (n=8) of children were found to have associated malformations: 42.9% (n=3) of patients with CAS and 45.5% (n=5) - with CRS. Results. All (n=7) patients with CAS underwent one-stage surgical correction, without complications. In 90.9% (n=10) of children with CRS staged surgical treatment was performed, and one-stage in 9.1% (n=1). At the stages of primary correction of CRS postoperative complications occurred in 18.2% (n=2): stoma stenosis (n=1); urethro-perineal fistula (n=1), which were surgically corrected. After the primary correction of CRS was completed, persistent constipation was noted in 2 (18.2%) children. Repeated staged reconstructive operations were performed on these patients. Conclusions. The use of the diagnostic, treatment and rehabilitation algorithm for CRS, developed in the clinic, made it possible to obtain good results in the long postoperative period in 63.6% (n=7) of children, and satisfactory results in 36.4% (n=4). The improved technique of surgical treatment of CAS made it possible to carry out primary correction of the defect with a good functional result in 71.4% (n=5) and satisfactory results in 28.6% (n=2) of children. The research was conducted in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Local Ethics Committee of the institution mentioned in the work. Informed consent of the patients was obtained for the research. The authors declare no conflict of interest.

Bowel function, urinary tract function, and health-related quality of life in males with anorectal malformations

PurposeThere is a knowledge gap regarding long-term outcomes for males undergoing surgery for an anorectal malformation (ARM). The purpose of this study was to investigate bowel function, bladder function, and health-related quality of life (HRQoL) in male patients with an anorectal malformation.MethodsThis cross-sectional questionnaire-based study included males treated for ARM at our institution between 1994 and 2017. Bowel function was assessed with bowel function score (BFS) while urinary tract function was assessed with lower urinary tract symptoms (LUTS) questionnaires. Health-related quality of life (HRQoL) was investigated using age-relevant questionnaires (KIDSCREEN and PGWBI). Patient characteristics were retrospectively collected from the medical records and descriptive statistics were used for analysis. Functional outcomes were compared with gender and age-matched controls while HRQoL was compared to normative data. The study was approved by ethics review authorities.ResultsA total of 58 (44.6%) of 130 males responded to the questionnaires. Regarding bowel function, 24 (42.1%) of 57 patients and 81 (95.3%) of 85 controls, respectively, reported a well-preserved bowel function represented by a BFS ≥ 17 (p < 0.001). Soiling issues and ‘feels urge’ items improved significantly with age. In a linear regression model, BFS increased significantly with age. For most parameters, the proportion of ARM patients with lower urinary tract symptoms was larger, though not significantly, compared to the controls. However, straining and stress incontinence were reported significantly more often by ARM patients. In patients and controls, voiding outcomes in terms of prevalence of having symptoms and the number of cumulative symptoms drop with increasing age. Children and adults reported similar or, in some domains, better HRQoL outcomes when compared to normative European data.ConclusionBowel function is impaired in male patients with ARM but significantly improves with age. Urinary tract function was affected, but overall comparable to the controls. HRQoL was unaffected. No significant association between the studied outcomes could be shown.Level of evidenceIII.

Significance of retrograde flow with antegrade continence enemas in children with fecal incontinence and constipation.

For children with constipation and fecal incontinence treated with antegrade continence enemas (ACE), a fluoroscopic study with contrast administered via appendicostomy/cecostomy can define the anatomy of the colon and simulate the flush to investigate associated symptoms or inadequate response. These studies can at times show retrograde flow into the small intestine. Our objective was to investigate the significance of this finding. We reviewed studies at our institution with contrast administered via appendicostomy/cecostomy in children treated with ACE, identifying those demonstrating retrograde flow of contrast. We recorded demographics, medical history, interventions, and outcomes. We identified 162 studies (52% male, median age 10.7 years) with contrast via appendicostomy (76%) or cecostomy (24%). Diagnoses included anorectal malformation (38%), spinal cord anomaly (26%), functional constipation (24%), colonic dysmotility (18%), and Hirschsprung disease (12%). Fifty-nine (36%) studies showed retrograde flow: 28/59 children (48%) were not responding adequately and 21/59 (36%) had symptoms with ACE. Children with retrograde flow were more likely to have symptoms with ACE than those without (36% vs. 15%, p < 0.01). Fourteen children underwent interventions for this finding, including administering flushes more distally (4/8 responded), changing positioning of the child during flush administration, (1/2 responded), and slowing administration (1/1 responded). Retrograde flow was associated with younger age (p < 0.01), not sex or underlying diagnosis. Identifying retrograde flow during studies with contrast administered via appendicostomy/cecostomy can be useful for children with a poor response or symptoms associated with ACE, as adjustments to the mechanics of the flush can alleviate those symptoms. Prognostic study, Level III.

Medical management of anorectal malformations.

Anorectal malformations (ARMs) are congenital anomalies of the anorectum and the genitourinary system that result in a broad spectrum of hindgut anomalies. Despite surgical correction patients continue to have late postoperative genitourinary and colorectal dysfunction that have significant impact on quality of life. This paper will review the current evidence and discuss the evaluation and management of postoperative patients with ARMs who present with persistent defecation disorder. A literature search was conducted using PubMed/MEDLINE/EMBASE databases applying the following terms: ARMs, imperforate anus, constipation, faecal incontinence, neurogenic bowel, posterior sagittal anorectoplasty. Patients who present with postoperative defecation disorders require timely diagnostic and surgical evaluation for anatomic abnormalities prior to initiation of bowel management. Goals of management are to avoid constipation in young children, achieve faecal continence in early childhood and facilitate independence in older children and adolescents. Treatment options vary from high dose stimulant laxatives to high-volume retrograde and antegrade enemas that facilitate mechanical colonic emptying. Appropriate diagnostic work-up and implementation of treatment can decrease long-term morbidity and improve quality of life in postoperative patients with ARMs who presents with defecation disorders.

Faecal incontinence: Retentive, non-retentive and when to suspect organic pathology.

Faecal incontinence is a highly prevalent and very distressing condition that occurs throughout the entire paediatric age. To summarise advances in the understanding of the epidemiology, pathophysiology, evaluation and treatment of children with faecal incontinence due to either disorders of gut-brain interaction or organic diseases. Literature review on prevalence, impact, diagnosis and treatment options for children with faecal incontinence, interspersed with observations from the author's lifelong career focused on evaluation of children with motility disorders. Faecal incontinence in children is most commonly due to unrecognised or insufficiently treated functional constipation with overflow incontinence. Non-retentive faecal incontinence (NRFI) is probably more common than previously thought and is particularly challenging to treat. Organic diseases such as anorectal malformations (ARMs), Hirschsprung disease and spinal defects are often associated with faecal incontinence; in these conditions, faecal incontinence has a profound impact on quality of life. Recognition of the different pathophysiologic mechanisms causing the incontinence is essential for a successful treatment plan. Athorough physical examination and history is all that is needed in the diagnosis of the causes of faecal incontinence related to disorders of gut-brain interaction. Colonic transit studies or x-rays may help to differentiate retentive from NRFI. Manometry tests are helpful in determining the mechanisms underlying the incontinence in children operated on for ARMs or Hirschsprung diseases. Multiple behavioural, medical and surgical interventions are available to lessen the severity of faecal incontinence and its impact on the daily life of affected individuals. Recent advances offer hope for children with faecal incontinence.

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome

BackgroundTownes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the “hotspot region”, which is particularly susceptible to mutation.MethodsIn this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations.ResultsWe identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein.ConclusionsOur findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment.

Anorectal malformation and Hirschsprung’s disease: a cross-sectional multicentre comparison of quality of life and bowel function to a healthy population

PurposeChildren with anorectal malformation (ARM) and Hirschsprung’s disease (HD) often experience bowel symptoms into adulthood, despite definitive surgery. This study evaluates the quality of life (QOL) and bowel functional outcome...

Characteristics and Clinical Features of Anorectal Malformations Without Fistula: A Systematic Literature Review

Anorectal malformation (MA) without fistula is a form of congenital abnormality that is often found in newborn babies. This study aims to identify the characteristics and clinical features of MA without fistula based on the latest scientific evidence. A systematic search was conducted on the PubMed, Scopus, and Web of Science databases using relevant keywords. Inclusion criteria included observational studies reporting the characteristics and clinical features of MA without fistula in humans. Two independent researchers conducted study selection, data extraction, and study quality assessment using the JBI Critical Appraisal Checklist tool. A total of 25 studies (2018-2024) involving 1548 MA patients without fistula met the inclusion criteria. The majority of patients were male (62%). The average age at diagnosis is 2 days. The most frequently reported clinical symptoms were absence of anus (100%), abdominal distension (78%), and vomiting (65%). The most common classification of MA without fistula was perineal (45%), followed by vestibular (30%) and cloacal (25%). The most frequently performed definitive surgery was perineal anoplasty (55%), followed by posterior sagittal anorectoplasty (PSARP) (35%) and laparoscopic-assisted anorectoplasty (10%). The most frequently reported postoperative complications were anal stenosis (15%), surgical wound infection (10%), and rectal prolapse (5%). MA without fistula is more common in male babies. The main clinical symptoms are absence of anus, abdominal distension, and vomiting. The perineal classification is the most common. Perineal anoplasty is the most frequently performed definitive surgery. Post-operative complications that need to be watched out for are anal stenosis, surgical wound infection, and rectal prolapse.

UK neonatal stoma practice: a population study

ObjectiveThe optimal time for neonatal stoma closure is unclear and there have been calls for a trial to compare early and late surgery. The feasibility of such a trial will...

Insights into Atresia Ani Type IV in Felis catus: Preliminary Epidemiolocal Findings Associated with Surgery.

Atresia Ani (AA) is a rare congenital anomaly in companion animals affecting rectal and anal development. Its incidence in cats remains unreported. This retrospective study aimed to characterize age, body condition, fistula size, and perioperative outcomes in Type IV Atresia Ani (with recto-vaginal fistula) in female cats. Surgical intervention is the primary treatment. Conducted over 2 years, the study included nine female cats diagnosed with Type IV Atresia Ani and recto-vaginal fistula undergoing surgery. Statistical analysis used the R program (version 4.2.1) with Rstudio®® extension. Significant results were observed at a 95% confidence interval and p < 0.05. The condition had an incidence of 4.7% among the 192 cats evaluated over a 2-year period. The findings suggest that a body condition score of 3, an age of 3 to 4 weeks, and a fistula length of 1 to 2 mm correlated with better surgical outcomes, reducing the likelihood of fecal incontinence and anal stenosis development, and enhancing defecation awareness during the perioperative period. This study is the first to report the disease incidence in cats undergoing surgery, according to the authors' knowledge.

Analysis of Risk Factors for Continence Post Posterior Sagittal Anorectoplasty (PSARP) in Anorectal Malformation Patients: A Single Center Observational Study at Dr. Mohammad Hoesin General Hospital, Palembang, Indonesia

Analysis of Risk Factors for Continence Post Posterior Sagittal Anorectoplasty (PSARP) in Anorectal Malformation Patients: A Single Center Observational Study at Dr. Mohammad Hoesin General Hospital, Palembang, Indonesia

Transient Abnormal Myelopoiesis in Down Syndrome Patients

Neonates with Down Syndrome (DS) have a propensity to develop the unique myeloproliferative disorder, Transient Abnormal Myelopoiesis (TAM). Transient abnormal myelopoiesis usually resolves spontaneously in &lt; 3 months, but approximately 10% of patients with TAM die from hepatic or multi-organ failure. After remission, 20% of patients with TAM progress into acute myeloid leukemia associated with down syndrome (ML-DS). The patient was a full-term 2-day-old baby girl with a birth weight of 3300 gr. Physical examination revealed dysmorphic facial features, hypertelorism, macroglossia, and low set ears, which is a characteristic sign of DS face, skin rash, and there was no anus. On examination of peripheral blood smears and bone marrow aspiration, hematological abnormalities, and circulating blast cells were found. Early diagnosis of low-lying anorectal malformation (MAR) without fistula and down syndrome. In treating patients with TAM, it is first necessary to know whether they have trisomy 21 syndrome, then trace the existing hematological disorders to find the GATA 1 genetic mutation. The most crucial hematological problem in patients with DS is leukemia. Mutations in the GATA 1 gene and the presence of DS can result in abnormal proliferation of megakaryocytes and erythroid progenitors in the fetus and hematological abnormalities in TAM. Transient abnormal myelopoiesis can be fatal in up to 10% of patients and resolves spontaneously. Therefore, laboratory examinations are very significant, including blood tests, peripheral blood smears, supporting examinations such as bone marrow aspiration, monitoring of clinical symptoms, and close monitoring of comorbidities. Examination repeat or follow-up bone marrow aspiration is required within six months of patient follow-up to reduce the risk of further complications. In this case, a follow-up examination is highly recommended because if there are no changes, the further examination must be carried out.

Congenital Heart Defects in Patients with Anorectal Malformations: A Retrospective Cohort Study of 281 Patients.

In patients born with anorectal malformations (ARM), additional congenital heart defects (CHD) can occur. We aimed to provide an overview on disease and treatment details of CHD identified in patients born with ARM, from a unique large cohort of a very rare disease. We performed a retrospective single-center cohort study between January 2000 and July 2023. All consecutive patients with ARM were included. Outcomes were the number of patients with CHD, and screening percentage and percentage of patients diagnosed with CHD over 3 time periods (2000-2006, 2007-2014, 2015-2023). We used uni- and multi-variable logistic regression analyses to search for associations between CHD present and baseline characteristics. In total, 281 patients were included. Some 241 (85.8%) underwent echocardiography, of whom 80 (33.2%) had CHD. Screening percentage with echocardiography increased (74.1% vs. 85.7% vs. 95.9%, p < 0.001) and percentage of patients diagnosed with CHD remained similar over time (30.2% vs. 34.5% vs. 34.0%, p = 0.836). Atrial and ventricular septal defects (n = 36, n = 29), and persistent left superior vena cava (n = 17) were most identified. The presence of VACTERL-association or a genetic syndrome was independently associated with the presence of CHD. CHD were present in 33% of patients with ARM that underwent echocardiography. Over time, the number of CHD identified through screening remained similar. Patients with the presence of VACTERL-association or a genetic syndrome had a higher risk of having CHD. Therefore, acknowledging the potential presence of CHD in patients with ARM remains important.

ATRA regulates myoblast differentiation and fusion through the RARα/Pitx2 signaling pathway, causing abnormal development of PFMs in ARM fetal rats.

Anorectal malformation (ARM) is the most common congenital digestive tract anomaly in newborns, and children with ARM often have varying degrees of underdevelopment of the pelvic floor muscles (PFMs). To explore the effects of RARα and Pitx2 on the development of rat PFMs, we constructed a rat ARM animal model using all-trans retinoic acid (ATRA), and verified the expression of RARα and Pitx2 in the PFMs of fetal rats. Additionally, we used rat myoblasts (L6 cells) to investigate the regulatory roles of RARα and Pitx2 in skeletal muscle myoblast differentiation and their interactions. The results indicated a significant decrease in the expression of RARα and Pitx2 in the PFMs of fetal rats with ARM. ATRA can also decrease the expression of RARα and Pitx2 in the L6 cells, while affecting the differentiation and fusion of L6 cells. Knocking down RARα in L6 cells reduced the expression of Pitx2, MYOD1, MYMK, and decreased myogenic activity in L6 cells. When RARα is activated, the decreased expression of Pitx2, MYOD1, and MYMK and myogenic differentiation can be restored to different extents. At the same time, increasing or inhibiting the expression of Pitx2 can counteract the effects of knocking down RARα and activating RARα respectively. These results indicate that Pitx2 may be downstream of the transcription factor RARα, mediating the effects of ATRA on the development of fetal rat PFMs.

Infantile Hemangioma with Minimal or Arrested Growth: Different Clinical Presentations in a Retrospective Case Series

Objectives: Infantile hemangioma with minimal or arrested growth (IHMAG) has been established as a subtype of infantile hemangioma (IH) due to positive glucose transporter-1 staining; however, it is clinically differentiated by a proliferative component of &lt;25% of its total surface area. IHMAG can be misdiagnosed as a capillary malformation, an IH precursor, a noninvoluting congenital hemangioma, or an arteriovenous malformation among others. In this case series, we aim to further illustrate the various clinical characteristics of IHMAG and the features that distinguish this unique entity from the other vascular entities. It is important to recognize the differentiating characteristics to avoid unnecessary evaluation and provide patients with the appropriate management plan. Methods: A retrospective chart review approved by the University of Rochester Medical Center Institutional Review Board was performed from January 2014 to December 2020, with the search terms: “infantile hemangioma with arrested or minimal growth,” “IHMAG” and “abortive hemangioma.” In total, 29 IHMAGs were identified in 27 patients. Charts were reviewed for demographic and clinical characteristics as well as workup, response to treatment, and outcomes. Results: In total, we identified 29 IHMAGs in 27 patients. Female to male ratio was 2:1. Average gestational age was 40 weeks. Lesions were present at birth in 22/27 patients. Out of the 29 IHMAGs, 18 were focal (62%) and 11 were segmental (38%). In most patients, skin examination revealed fine telangiectatic patches with focal areas of bright red papules. Out of 29 IHMAGs, 20 involved the lower body and 18 were focal, whereas 11 were segmental. PHACES syndrome (posterior fossa anomalies, infantile hemangioma, arterial anomalies, cardiac anomalies, eye anomalies, and midline skin defects) was identified in 2 of 2 patients with facial segmental IHMAGs. LUMBAR syndrome (lower body infantile hemangiomas and other skin defects; urogenital anomalies and ulceration; myelopathy; bony deformities; anorectal malformations and arterial anomalies; and rectal anomalies) was ruled out in 2 of 2 patients with extensive IHMAGs involving the sacral area. Semicircular lipoatrophy was seen in 1 patient with segmental circumferential IHMAG of the leg. Ultrasonography was the most used modality. Out of 27 infants, 18 were treated with topical timolol, 4 were treated with oral propranolol, and 2 patients were treated with a combination of both. Conclusion: Trends of the epidemiologic, clinical, and prognostic data of our 27 cases are in concordance with prior reports on IHMAG, further consolidating our understanding of this peculiar entity. IHMAG typically presents as a telangiectatic pink to violaceous patch present at birth in term newborns predominantly involving the lower half of the body. It is important to keep a high index of suspicion for the other vascular anomalies in the differential diagnosis. A segmental IHMAG should prompt providers to screen for associated syndromes such as PHACES and LUMBAR. Additional studies are warranted to better elucidate the pathogenesis of IHMAG and its associated anomalies. Level of evidence: Original report (case series).

Utilization of Indocyanine Green (ICG) Fluorescence in Patients with Pediatric Colorectal Diseases: The Current Applications and Reported Outcomes.

In pediatric colorectal surgery, achieving and visualizing adequate perfusion during complex reconstructive procedures are paramount to ensure postoperative success. However, intraoperative identification of proper perfusion remains a challeng. This review synthesizes findings from the literature spanning from January 2010 to March 2024, sourced from Medline/PubMed, EMBASE, and other databases, to evaluate the role of indocyanine green (ICG) fluorescence imaging in enhancing surgical outcomes. Specifically, it explores the use of ICG in surgeries related to Hirschsprung disease, anorectal malformations, cloacal reconstructions, vaginal agenesis, bladder augmentation, and the construction of antegrade continence channels. Preliminary evidence suggests that ICG fluorescence significantly aids in intraoperative decision-making by improving the visualization of vascular networks and assessing tissue perfusion. Despite the limited number of studies, initial findings indicate that ICG may offer advantages over traditional clinical assessments for intestinal perfusion. Its application has demonstrated a promising safety profile in pediatric patients, underscoring the need for larger, prospective studies to validate these observations, quantify benefits, and further assess its impact on clinical outcomes. The potential of ICG to enhance pediatric colorectal surgery by providing real-time, accurate perfusion data could significantly improve surgical precision and patient recovery.