Kabuki Syndrome and Anorectal Malformations: Implications for Diagnosis and Treatment.

Kabuki syndrome (KS) is a rare genetic condition characterized by a distinctive facies, intellectual disability, growth delay, and a variety of skeletal, visceral, and other anomalies, including anorectal malformations (ARMs). We present two cases of female patients with KS, diagnosed and successfully managed at our institution, one with a perineal fistula and one with a rectovestibular fistula. Our report, along with a literature review, shows that the syndrome is usually associated with "low" anomalies, with a potential for a good prognosis.

Inflammatory fibroid polyp: a rare benign tumor of the alimentary tract in children presenting as intussusception-case report and review of literature.

Inflammatory fibroid polyp (IFP) represents a rare cause of gastrointestinal polypoid disease in childhood. Τhe lesion has been described by various names beyond the currently accepted term, including "Vanek's tumour," eosinophilic or submucosal granuloma, gastric fibroma with eosinophilic infiltration, inflammatory pseudotumor, and hemangiopericytoma. The etiopathogenesis and origin of the mesenchymal spindle-shaped cells that comprise the polyp remains enigmatic.

The impact of an operative note proforma at a paediatric surgical centre.

Rationale, Aims And Objectives: With expectations for standardization and evidence-based practice, the Royal College of Surgeons (RCS) published the 'Good Surgical Practice' in 2008. The document sets standards for operative records anticipating improved documentation, audits, medico-legal review and quality and safety of handover. We evaluated (1) documentation against RCS standards; (2) whether RCS standards are applicable to and adequate for paediatric surgery; and (3) the impact of a standardized operative proforma.

Urinary incontinence - an unusual indication for early vaginoplasty in late presenting congenital adrenal hyperplasia.

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition leading to deficient cortisol with an incidence of 1/16,000. Patients with CAH typically present early with ambiguous genitalia or as an emergency with adrenal crisis.

Case: We report an atypical late presentation of a 4-year-old girl with pubertal-like symptoms and urinary incontinence, due to a persistent urogenital sinus (UGS).

Congenital abdominal wall defects and testicular maldescent--a 10-year single-center experience.

Purpose: The relationship between congenital abdominal wall defects (AWDs) and undescended testes (UDTs) is poorly defined. We report a study of infants with AWD and UDT.

Methods: Hospital records of newborns with AWD managed during 1998 to 2008 were reviewed.

An alternative management option for colonic atresia preventing loss of the ileocecal valve.

Purpose: Management of colonic atresia is contentious, with primary anastomosis having a notable risk of anastomotic leak. In addition, resection of the terminal ileum and ileocecal (i-c) valve is frequently performed, risking side effects such as diarrhea, vitamin B(12) deficiency, and gall stone formation.

Methods: The hospital coding system was searched for all patients with a diagnosis of colonic atresia between July 2005 and July 2008.

Vacuum drainage in the management of complicated abdominal wound dehiscence in children.

Purpose: The aim of the study was to report the outcomes of the vacuum dressing method (vacuum-assisted closure [VAC]) in the management of "complicated" abdominal wounds in a selected group of children including neonates.

Methods: All children with vacuum (VAC) dressing-assisted closure of a complex abdominal wound (defined as complete/partial wound dehiscence combined with at least one of stoma, anastomosis, tube enterostomy, or infected patch abdominoplasty) were included in a 2-year study that took place in a single tertiary referral hospital. Retrospective case note analysis was used to determine premorbid diagnosis, management, illness severity markers, morbidity, and outcome.

After the honeymoon comes divorce: long-term use of the antegrade continence enema procedure.

Background: Having reported that 18% of children discontinue use of the antegrade continence enema (ACE) after 5 years, we aimed to determine long-term use after an ACE procedure.

Methods: A postal/telephone questionnaire was conducted. Subjects were consecutive children undergoing an ACE between 1993 and 1999.

Infections in gastroschisis: organisms and factors.

This study aimed to define the incidence, causative organisms and predisposing factors leading to infection related morbidity in newborns with gastroschisis. All gastroschisis patients admitted over the 5-year period (1999-2004) were retrospectively reviewed. Surveillance samples, wound, blood, urine and fecal cultures were analyzed.

Surgical strategies in the management of ecthyma gangrenosum in paediatric oncology patients.

Clinical presentation and microbiology profiles of neutropenic paediatric oncology patients presenting with ecthyma gangrenosum (EG) were studied. Surgical strategies deployed for these critically ill children are reported. Between 1994 and 2005, all children with EG were identified.

Primary pull-through for Hirschsprung's disease: comparison of open and laparoscopic-assisted procedures.

Rectosigmoid Hirschsprung's disease is usually amenable to minimally invasive primary neonatal pull-through. This may be performed either entirely transanally or with laparoscopic assistance for biopsies with or without colonic mobilization. In our center, all dissection is performed transanally; laparoscopy is used for obtaining colonic biopsies and orientation of the pulled-through bowel segment.

Early adult outcome of the Duhamel procedure for left-sided Hirschsprung disease--a prospective serial assessment study.

Purpose: To assess both early adult functional outcome and change in long-term functional outcome over time after the Duhamel procedure (DP) for left-sided Hirschsprung disease (HSCR).

Methods: The study population consisted of 78 children (aged 19.9 +/- 3.

Functional outcome in correction of perineal fistula in boys with anoplasty versus posterior sagittal anorectoplasty.

Optimal surgical therapy for low anorectal anomalies remains controversial. We compared functional outcome after correction of perineal fistula in boys with either anoplasty (AP) or limited posterior sagittal anorectoplasty (PSARP). Thirty-nine boys from two centres treated for perineal fistula with either AP (n = 24) or PSARP (n = 15) from 1996 to 2001 underwent prospective follow-up for functional outcome.

Anorectal malformation with tubular hindgut duplication.

The association of hindgut duplication and anorectal malformation is rare. Published classifications of this association are confusing in respect of terminology. We report a case of blind-ending, Y-shaped tubular duplication of the distal hindgut, associated with an anorectal malformation (rectourethral fistula) affecting the colon proper.

Perineal groove.

We present a case of this uncommon congenital anomaly of the perineum. A 6-month-old baby had a perineal groove excised for cosmetic reasons. The histology showed a strip of squamous epithelium with an intervening area lined by rectal type of mucosa, suggesting an embryological remnant such as urorectal septum.

Functional outcome and quality of life in anorectal malformations.

Background/purpose: The aim of this study was to assess the early functional outcome and quality of life (QOL) in children with anorectal malformations.

Methods: Children treated for anorectal malformations (ARMs) from 1994 to 2000 were evaluated if 4 years or older. Primary outcome measures were bowel function score, assessed by functional outcome questionnaire, and QOL using the Pediatric Quality of Life Inventory (PedsQL 4).

Colonic transit time--what is normal?

Background: Constipation is a common problem in childhood, and various radiologic methods have been advocated for investigation. Colonic transit time (CTT) has been used in adults to investigate colonic motility, but few studies evaluate this method in children. Data on CTT in the normal paediatric population are scarce.

Comparison of functional outcomes of Duhamel and transanal endorectal coloanal anastomosis for Hirschsprung's disease.

Purpose: The aim of this study was to determine the morbidity and medium-term functional outcome of the Duhamel operation and laparotomy and transanal endorectal coloanal anastomosis (TECA) for Hirschsprung's disease (HSCR).

Methods: The study populations were 34 consecutive children who underwent the Duhamel operation (or Lester Martin modification) and 37 who had the TECA. Demographic details were obtained by case note review, and functional outcome was determined by a combination of outpatient interview, questionnaire, and telephone enquiry.

After the honeymoon--medium-term outcome of antegrade continence enema procedure.

Purpose: The aim of this study was to determine medium-term outcomes of the antegrade continence enema (ACE) procedure.

Methods: A retrospective casenote review plus telephone questionnaire was conducted. The study was performed at a regional paediatric surgical centre.

Double blind randomised controlled trial of topical glyceryl trinitrate in anal fissure.

Aims: To determine the effectiveness and safety of topical glyceryl trinitrate (GTN) in the management of acute anal fissure in children.

Methods: Individual children were randomised to receive GTN paste or placebo for six weeks in addition to oral senna and lactulose. Patients took laxatives alone for a further 10 weeks.

Phenotypic presentation and outcome of esophageal atresia in the era of the Spitz classification.

Purpose: The aim of this study was to investigate contemporary patterns of presentation and outcome in newborns with esophageal atresia with or without tracheoesophageal fistula (OA) using modern prognostic criteria to appraise survival.

Methods: Over a 12-year period (1986 through 1997), 134 patients with OA were admitted to a single institution. Patient demographics, the presence of cardiac defects, other associated abnormalities (VACTERL), surgical intervention, and patient outcome were recorded.

Cystic retroperitoneal lymphangioma: treatment by image-guided percutaneous catheter drainage and sclerotherapy.

Retroperitoneal cystic lymphangiomas are extremely rare and the majority are symptomatic during childhood. Although benign, they can compress and infiltrate vital structures. Surgery is curative but is associated with a high complication rate.

Umbilical pyloromyotomy--an alternative to laparoscopy?

Aims: To evaluate the utility of umbilical pyloromyotomy for infantile hypertrophic pyloric stenosis (IHPS) compared to published series promoting laparoscopy.

Methods: Eighty-six babies with IHPS had pyloromyotomy using an umbilical skin fold incision. Operating times, post-operative hospital stay and cosmetic appearance of the umbilical wound were studied.

An audit of the management of the acute scrotum in children with Henoch-Schonlein Purpura.

Many children with Henoch-Schonlein anaphylactoid purpura syndrome (HSAPS) who develop an acute scrotum have scrotal explorations to exclude torsion of the spermatic cord. However, the cause of the acute scrotum in the context of HSAPS is known to be vasculitis and not torsion. The aim of this study, therefore, was to identify factors that underlie this practice.