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.

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.

The value of contrast studies in the evaluation of bowel strictures after necrotising enterocolitis.

PURPOSE: Strictures of the bowel are a frequent complication post-necrotising enterocolitis (NEC). Contrast studies are routinely performed prior to stoma closure following NEC. The aim of this study was to evaluate the ability of these studies to detect strictures and also directly compare them to operative and histological findings. METHODS: Two hundred and fourteen neonates who had a diagnosis of NEC (Bell stage 2 or greater) in a single unit (2007-2011) were analysed. Their case notes, radiology, and histology were reviewed. RESULTS: One hundred and sixteen neonates underwent an emergency laparotomy and 77 had stomas fashioned. Sixty-six patients had a contrast study prior to stoma closure (distal loopogram 18, contrast enema 37, both studies 11). Colonic strictures were reported in 18 patients and small bowel strictures were reported in two patients. Fourteen of these colonic strictures were confirmed at operation and on histology but three colonic strictures were missed on contrast studies; one patient had had both contrast studies and the other two only a distal loopogram. Two small bowel strictures reported were confirmed and an additional small bowel stricture missed on distal loopogram was also detected at the time of operation. The incidence of post-op strictures was 19 out of 68 patients (27.9 %) and 16 (84.2 %) of these strictures were found in the colon. Contrast enemas had a much higher sensitivity for detecting post-NEC colonic strictures than distal loopograms; 93 versus 50 %, respectively; however, they are more likely to give a false positive result and therefore their specificity is lower; 88 versus 95 %, respectively. CONCLUSION: Colon is the commonest site for post-NEC stricture and contrast enema is the study of choice for detecting these strictures prior to stoma closure.

Improving outcome from Plastibell circumcisions in infants.

Circumcisions are among the most frequently performed operations in children and numerous techniques are employed often with varying results. Use of the Plastibell (Hollister Incorporated, Illinois, USA), under local anesthetic, is popular for cultural and religious circumcisions but is not without its problems. Complications of Plastibell (slippage, migration, bleeding and serious infection) have been reported. Described is a prospective series of cases in which modifications to the standard Plastibell technique were utilized to improve outcomes, in particular, the risk of bleeding.

Ovarian reconstitution following laparoscopic decapsulation of congenital cyst.

Laparoscopic management of congenital ovarian cysts is widely practiced but there is a dearth of information on the performance of the gonad where organ-preserving surgery is undertaken. Presented is a radiological diary documenting the progress of a complex congenital ovarian cyst from the antenatal period to a year post-laparoscopic decapsulation.

[Congenital genital anomalies. Aspects of diagnostics and treatment]. / Igimtos lytiniu organu anomalijos. Diagnostikos ir gydymo aspektai.

Congenital genital anomalies are a very complex pathology. In order to clarify its causes it is important to revert to the genetic conditions and regularities of embriological development. The genital disturbances are mostly determined by chromosomal or endocrinic disorders or by impaired biochemical processes. Clinical problems arise when the genetical sex is in discrepancy with ambiguous genitalia. True hermaphroditism, congenital adrenal hyperplasia, testicular feminization and gonadal dysgenesis are the most common syndromes. Diagnostic criteria applied are similar for all (establishment of karyotype, investigation of hormones and their derivates, genital ultrasound and endoscopy, if needed - radiological examination), but medical and surgical treatment is applied to each patient individually.

Improving outcome from Plastibell™ circumcisions in infants

Circumcisions are among the most frequently performed operations in children and numerous techniques are employed often with varying results. Use of the Plastibell™ (Hollister Incorporated, Illinois, USA), under local anesthetic, is popular for cultural and religious circumcisions but is not without its problems. Complications of Plastibell™ (slippage, migration, bleeding and serious infection) have been reported. Described is a prospective series of cases in which modifications to the standard Plastibell™ technique were utilized to improve outcomes, in particular, the risk of bleeding.

Feminising surgery in male pseudohermaphrodites.

In the framework of the international project between the paediatric surgery clinics of Kaunas Medical University and Copenhagen University Hospital, 34 patients raised as females were examined and treated. Eighteen patients were affected by androgen insensitivity syndrome, and 16 patients by mixed gonadal dysgenesis. All patients had a Y chromosome, although external genitalia was either typically female or had mixed features of both sexes. The particulars of diagnostics and treatment are discussed, focusing on surgical complications.

[Adrenogenital syndrome: feminizing genital reconstruction]. / Adrenogenitalinis sindromas: feminizuojanti genitaliju plastika, pooperaciniai rezultatai.

Adrenogenital syndrome, or so called congenital adrenal hyperplasia, is caused by a congenital insufficiency of the enzyme 21-hydroxylase, which is responsible for converting cortisol into cholesterol. Because of virilizing effect of androgens overproduction girls develop clitoral hypertrophy and persistent urogenital sinus (common channel for urethra and vagina). Surgical treatment is recommended in order to repair those developmental faults. The aim of this study was to employ the contemporary surgical techniques and to evaluate the postoperative results. Forty-seven patients affected by adrenogenital syndrome were investigated and treated at two institutions: Departments of Pediatric Surgery of Copenhagen University Hospital and Kaunas Medical University Hospital. Forty-three patients have been operated and underwent genitoplasty. Surgical method was chosen individually depending on the height of the urogenital sinus. In a case of low sinus a simple cut-back procedure was performed. In a case of high sinus the more complex procedure such as total urogenital mobilization or vaginal pull through would be involved. All patients underwent vaginal dilatations for 6-12 months postoperatively. Twenty-eight patients underwent clitoroplasty while the glans and the neurovascular bundle were preserved and clitoral skin used for plasty of the labia minora. Postoperatively the patients were observed for 0.5-5 years, the close results showed to be good. There were 4 cases of vaginal stenosis and 2 cases of urethrovaginal fistula (all successfully repaired later). Early one staged genitoplasty and postoperative vaginal dilatations for the period of 6-12 months is recommended.