Late diagnosis of anorectal malformation: how good is good enough?

PURPOSE: National data from the United Kingdom reported in 2016 have suggested that almost one quarter of babies with anorectal malformation (ARM) have a delay in diagnosis. The UK's Newborn Infant Physical Examination dictates a perineal examination should be performed within 72 h of birth. We sought to describe a tertiary single-centre experience of late presentation in the most recent 5 years. METHODS: A single-centre prospective registry of ARM patients (July 2018-March 2024) was analysed. Timing of presentation with anomaly was noted. Patients presenting > 72 h or having been discharged home were defined as a delayed diagnosis. Factors associated with delayed diagnosis were noted. RESULTS: Sixty patients were included, of whom nine (15%) were diagnosed after 72 h [range 4-279 days]. This represents a non-significant improvement compared to 39/174 (22%) late diagnosed cases in the BAPS-CASS cohort from 2016 to 17 (p = 0.188). Presenting symptoms of obstruction (i.e. distension, vomiting, megarectum) were more common in late diagnosed patients (4/9 (44%) vs. 1/51(2%); p = 0.001). Anomalies producing meconium on the perineum were more likely to be diagnosed late (8/32 (25%) vs 1/28 (4%); p = 0.029). Complications and changes to clinical management for these cases are presented. CONCLUSION: Although our regional rates of late diagnosis appear to be lower than previously reported national rates, there remains a significant number of infants who are diagnosed late especially those with visible perineal openings. These infants are more commonly symptomatic; entraining additional risks associated with an emergency presentation.

Identifying Risk Factors for Surgical Site Infection After Stoma Closure in Infants for Targeted Implementation of Surgical Site Infection Reduction Bundle.

Background: To determine risk factors for surgical site infection (SSI) in infants after stoma closure, to identify at-risk patients, plan timing of surgery, and implement SSI-reduction strategies. Patients and Methods: A single center retrospective comparison study of all children less than one year of age who underwent enterostomy closure (2018-2020) with SSI diagnosed through a prospective surveillance program, using criteria from Public Health England (PHE). Demographics and risk factors, types of SSI, systemic sepsis, mortality and length of stay were compared between SSI and non-SSI. Significant factors associated with SSI were analyzed in a multivariate binomial logistic regression model. Results: Eighty-nine stoma closures were performed, most commonly for necrotizing enterocolitis (NEC) and anorectal malformation. Fourteen had SSI (16%): 12 superficial and two deep; three developed systemic sepsis, but no 30-day mortality. Surgical site infection was associated with NEC (12/14 vs. 32/75; p = 0.003), younger age (median 76 vs. 89 days; p = 0.014), lower corrected gestation (cutoff: 39 weeks gestation; 11/14 vs. 27/75; p = 0.004) and lower weight (cutoff: 2.2 kg; 7/14 vs. 16/75; p = 0.032), compared with non-SSI. After correcting for age, gestation, and weight, logistic regression showed NEC was an independent predictor for SSI (odds ratio [OR], 12; 95% confidence interval [CI],1.2-125). The at-risk cohort (n = 56; 63%) had seven-fold increased risk of SSI and four-fold longer hospital stay, which may be the target for SSI-reduction strategies. Conclusions: Necrotizing enterocolitis-related stoma closure is at increased risk for SSI. Considerations for delaying stoma closure until achieving 39 weeks gestation or 2.2 kg in weight may further reduce SSI. Targeting SSI-reduction strategies using these criteria may improve resource-rationalization.

Splenic Rupture Secondary to Vascular Ehlers-Danlos Syndrome Managed by Coil Embolization of the Splenic Artery.

Aim Atraumatic splenic rupture is uncommon and life-threatening. It may be related to underlying pathology and be the initial manifestation of the condition. Vascular Ehlers-Danlos syndrome (V-EDS) is a rare autosomal dominant collagen vascular disorder, associated with vessel fragility and rupture. We describe a child presenting with splenic rupture managed by embolization of the splenic artery. She was subsequently diagnosed with V-EDS. Case Description A 11-year-old girl with thalassemia trait presented with sudden onset of abdominal pain and hypovolemic shock. There was no history of trauma. Following resuscitation, abdominal computed tomography showed hemoperitoneum and active splenic arterial extravasation. Angiography demonstrated four bleeding points, from irregular vessels supplying the upper two-thirds of the spleen. These were not amenable to supraselective embolization. Therefore, coil embolization of the main splenic artery was performed, with no splenic supply seen on the postembolization angiogram. Her postoperative recovery was complicated by pancreatitis secondary to partial ischemia of the pancreatic tail. Subsequent extensive investigations excluded hematological, myeloproliferative, and infective causes for her splenic rupture. A safeguarding investigation was completed, with no pertinent factors identified. Findings of thin skin, abnormal bruising, and hypermobile joints raised a clinical suspicion of a connective tissue disorder. Genetic testing revealed a de novo mutation of the COL3A1 gene. Conclusions There are only four reports of V-EDS causing splenic rupture in the literature to date. These patients were all adults and only one had not previously been diagnosed with V-EDS. All underwent splenectomy. While V-EDS presenting with abdominal visceral rupture in children has been reported, this is the first report of a child with V-EDS presenting with splenic rupture. It is the only case of splenic rupture secondary to V-EDS that has been managed minimally invasively by embolization.

Post-operative strictures in anorectal malformation: trends over 15 years.

AIM: For decades, paediatric surgeons have employed the standard posterior sagittal anorectoplasty (PSARP) approach to deal with patients with anorectal malformations (ARM). In recent years, we noted an apparent increase in the incidence of anal stricture after surgical repair of ARM following the introduction of laparoscopic pull-through and techniques aiming to preserve the internal sphincter-the internal sphincter sparing approach (ISSA). We decided to analyse our data to find out if these new trends had added to the problem of post-operative strictures. METHODS: All patients with ARM at our institution from January 2000 to December 2015 were identified. A retrospective case note review was carried out. Data collected included patient demographics, type of ARM, operative details, and post-operative outcomes. RESULTS: 114 patients were identified. Ten patients were excluded. Of the remaining 104 children, 48 (46%) were female. Median age was 8.3 (range 1.2-16.8) years. Types of ARM were as follows: perineal fistula (15 patients), anterior stenotic anus (12), imperforate anus without fistula (10), vestibular fistula (32), rectourethral (bulbar) fistula (11), rectourethral (prostatic) fistula (14), rectovesical fistula (7), and cloaca (3). Twenty-seven patients with a perineal fistula or anterior stenotic anus underwent perineal procedures that were variably described by the different operating surgeons. The majority (15 patients) had an anoplasty, 5 had anal transposition, 5 had limited PSARP, and 2 patients had ISSA. Two patients with a cloacal anomaly underwent open cloacal reconstruction. Of the remaining 75 patients, 45 had a PSARP approach, 6 had a laparoscopic-assisted pull-through, and 18 had ISSA. Four girls with vestibular fistula had anal transposition and two boys with imperforate anus without fistula had anoplasty. 15 (14%) children developed anal stricture. Stricture incidence differed according to operation type. PSARP was the most commonly performed procedure, with only 6% developing a stricture. In contrast, 30% of ISSA patients and 50% of children who had laparoscopic pull-through developed a stricture. Strictures also occurred in 11 and 12% of children having anal transposition and anoplasty, respectively. CONCLUSION: The laparoscopic-assisted pull-through involves tunnelling the sphincter muscle complex. We found that often the tunnels were not wide enough, resulting in narrowing not just at the ano-cutaneous junction but also at the deeper level. 50% developed strictures. We have modified our technique by ensuring that the tunnels are generous enough to allow the rectum to be pulled through without any resistance. ISSA unfortunately resulted in 30% of our patients developing strictures. This approach, started in 2004, was, therefore, abandoned in 2013. The standard Pena's PSARP, with or without a laparotomy, has stood the test of time. Any modification of this approach must be carefully thought through and audited meticulously. Strictures can cause significant morbidity, which may need several revisions, and the resulting redo anoplasties run the risk of sphincter damage, ironically which the newer modifications of ISSA were trying to conserve.

Laparoscopic insertion of antegrade continence enema catheter: a technique enabling early postoperative usage.

AIMS: The Chait Trapdoor Caecostomy catheter was developed to allow the use of antegrade continence enemas without using the appendix. We describe a technique for its insertion under laparoscopic guidance. METHODS: Bowel is secured to the abdominal wall using nonabsorbable sutures. Technical details of the procedure are described. RESULTS: Five children underwent the procedure. Four had a left-sided procedure and tolerated the procedure well without complications. They have good results with daily antegrade enemas. One child who had a cecostomy had postoperative abdominal distension. He has ongoing soiling and constipation, but has problems with compliance. CONCLUSIONS: We have used the technique in a small number of patients, but results have been favorable. The sutures prevent the risk of the bowel segment slipping from the tube when distended with fluid, provide a good seal around the tube to avoid leakage, and keep a smooth alignment of bowel without angulation.

Surgical management of urethral prolapse in girls: 13 years' experience.

UNLABELLED: Study Type - Therapy (case series) Level of Evidence 4 What's known on the subject? and What does the study add? Urethral prolapse (UP) is a rare condition, with a suggested incidence of one in 3000. It occurs most often in prepubertal, primarily Black, girls. The underlying cause of this condition remains uncertain, although a lack of oestrogen is thought to have a role, owing to the preponderance of the condition in the prepubertal and postmenopausal age groups. A popular theory is that the problem arises as a consequence of poor attachments between the two layers of smooth muscle surrounding the urethra, combined with episodic increases in intraabdominal pressure. The most common presentation of UP is genital bleeding or a mass. The classical appearance of UP (i.e. the 'doughnut' sign) enables diagnosis to be made easily on clinical grounds alone. Optimum management of UP is less certain, with opinion divided on the merits of conservative therapy vs surgical excision. Conservative therapy aims to reduce mucosal oedema, improve local hygiene and counteract lack of oestrogen by using a combination of any or all of the following: Sitz baths, topical oestrogen cream, antibacterial wash/soap and topical antibiotics. Surgical management of UP involves excision of the prolapsed mucosa circumferentially. Several authors have reported success with surgical excision, but it carries a risk of developing stenosis of the urethral opening. The present study supports previously reported findings by other authors in terms of demographics and clinical presentation. Patient ages ranged from 2 to 15 years and all girls were of Black race. They most commonly presented with a mass (8/21 patients) or bleeding (6/21 patients) and diagnosis was confirmed on clinical examination, although one required a general anaesthetic (GA) to complete the examination. The present study shows that, in mild cases (usually where there is a mass without symptoms), UP can be successfully managed using conservative measures. In our practice, this involves the use of Sitz baths. More importantly, the study shows that in cases with more symptomatic prolapse or with evidence of vascular compromise, there is an alternative to a surgical procedure and its potential complications. We have found reducing the prolapse under a GA to be beneficial. Complete reduction was achieved in 3/7 patients, with no recurrence. The remaining four patients with partial reduction had improvement in symptoms, allowing conservative therapy to continue and resulting in complete or almost complete resolution of prolapse at follow-up. This approach has not been described previously in published literature on UP. OBJECTIVE: To review our experience of managing urethral prolapse (UP) in girls. PATIENTS AND METHODS: A total of 21 girls, all of whom were Black and whose age range was 2-15 years, were diagnosed with UP between 1995 and 2008. Case notes were reviewed for age, symptoms, clinical findings, predisposing factors, management and outcomes. RESULTS: Presenting symptoms were: mass (n= 8), bleeding (n= 6), dysuria/straining at micturition (n= 6), discharge (n= 1) and constipation (n= 1). In all, 13 patients were managed conservatively because their symptoms were mild. Seven patients underwent prolapse reduction under general anaesthetic (GA). In one patient, an examination under anesthesia was done to confirm the diagnosis as bedside examination was not possible. Prolapse reduction was complete in only three patients. Two patients had partial reduction, which resolved over the next 3 months. Two patients continue to have minimal residual prolapse. A causative/precipitating factor was found in only one patient (severe chronic constipation). She had a recurrence 2 years after reduction. There were no other recurrences. CONCLUSIONS: UP in girls can be diagnosed clinically in most cases. Girls with mild symptoms can be managed conservatively. For girls with more significant symptoms, we recommend a simple reduction under GA. This may be curative, or may reduce the prolapse significantly. Surgical excision is almost never required.

Simultaneous superficial venous surgery and on-table subintimal angioplasty in the treatment of venous leg ulcers with arterial compromise.

PURPOSE: To determine the feasibility of synchronous superficial venous surgery and on-table subintimal angioplasty in the treatment of venous ulcers with arterial compromise. METHODS: Between January 1992 and December 2004, 9 patients (8 women; median age 83 years, range 72-92) underwent the synchronous procedure. No patient had deep venous reflux; 4 patients presented with rest pain and 2 were diabetic. Their medical records were retrospectively reviewed to gather data on clinical assessment, ankle-brachial index (ABI), lower limb arterial and venous duplex scans, and treatment variables. RESULTS: Angioplasty was technically successful (median ABI improvement 0.31, range 0.23-0.34) in all procedures, which lasted a median 85 minutes (range 60-160). The procedure was performed under general anesthesia in 7 patients, local in 1, and spinal in 1. Superficial venous surgery was performed first in 8 patients: 6 had great saphenous vein (GSV) ligation without stripping, followed by subintimal angioplasty, and 1 also had small saphenous vein (SSV) ligation. One patient underwent SSV ligation first, followed by angioplasty; another had GSV disconnection and stripping, followed by angioplasty. In 1 patient, angioplasty preceded GSV surgery. One patient required repeat angioplasty 1 week later for re-occlusion. All ulcers healed (median 4 months, range 1-36). Five patients died during a median 32-month follow-up (range 4-82) from unrelated causes; there was 1 ulcer recurrence at 3 years in a patient who declined further investigation and treatment. CONCLUSIONS: Simultaneous superficial venous surgery and on-table subintimal angioplasty is a safe and novel strategy in the management of a select subgroup of patients with venous ulcers and coexistent arterial compromise.