Feargal Quinn

The influence of trisomy 21 on outcome in children with Hirschsprung's disease☆

The association of Hirschsprungs disease (HD) and trisomy 21 has been well recognised. Seventeen (13%) of 135 patients presenting with HD between 1975 and 1992 had trisomy 21. Nine (53%) presented in the neonatal period, with intestinal obstruction (5), enterocolitis (2), or perforation of the colon (2). Eight patients presented after the neonatal period, with constipation. Pathological involvement included rectosigmoid (12), long segment (4), and total colonic aganglionosis (1). Definitive surgery was performed in 14 patients. At the mean follow-up of 8 years (4 to 15 years), only one of the 13 patients has normal bowel function. Eight have persistent soiling, and two have reverted to permanent stomata. There were two deaths in the series; one resulted from enterocolitis complicating HD, and the other from congenital cardiac disease. These data suggest that long-term bowel function in children with HD and trisomy 21 is poor and should be taken into consideration when planning the management.

Cultural Bias in the AAP’s 2012 Technical Report and Policy Statement on Male Circumcision

The American Academy of Pediatrics recently released its new Technical Report and Policy Statement on male circumcision, concluding that current evidence indicates that the health benefits of newborn male circumcision outweigh the risks. The technical report is based on the scrutiny of a large number of complex scientific articles. Therefore, while striving for objectivity, the conclusions drawn by the 8 task force members reflect what these individual physicians perceived as trustworthy evidence. Seen from the outside, cultural bias reflecting the normality of nontherapeutic male circumcision in the United States seems obvious, and the report’s conclusions are different from those reached by physicians in other parts of the Western world, including Europe, Canada, and Australia. In this commentary, a different view is presented by non–US-based physicians and representatives of general medical associations and societies for pediatrics, pediatric surgery, and pediatric urology in Northern Europe. To these authors, only 1 of the arguments put forward by the American Academy of Pediatrics has some theoretical relevance in relation to infant male circumcision; namely, the possible protection against urinary tract infections in infant boys, which can easily be treated with antibiotics without tissue loss. The other claimed health benefits, including protection against HIV/AIDS, genital herpes, genital warts, and penile cancer, are questionable, weak, and likely to have little public health relevance in a Western context, and they do not represent compelling reasons for surgery before boys are old enough to decide for themselves.

Hydrocele on the web: an evaluation of Internet-based information.

Abstract Objective. To evaluate the quality of health-based information available to patients and their parents on the Internet regarding hydrocele, a common paediatric condition, an Internet search was performed and a questionnaire distributed. Material and methods. The top 100 websites from the five most accessed search engines were reviewed by entering the term “Hydrocele” into each search engine. Website authorship was determined by close examination of each website. Websites were assessed for accuracy and validity according to the Health On the Net Foundation Code (HONcode), DISCERN score and JAMA benchmark criteria, recognized scoring systems. A voluntary written questionnaire was distributed to parents of patients on two consecutive days outside a paediatric clinic. Results. After duplicate and inaccessible sites had been excluded, 37 unique websites were identified: 11 were academic, eight were produced by physicians not affiliated with an academic institution, three were commercial, four were attached to discussion groups or social media sites, four were media related and seven were unspecified. There was a significant difference between the academic and the physician-related sites compared with the other categories, with academic and physician sites scoring highest on the recognized scoring systems (p = 0.0001). It was found that 56.7% of patients accessed the Internet regarding their condition and 33% believed this information to be accurate. Conclusion. The quality of health-related information overall is of a poor quality. Academic and physician-provided websites were shown to contain better quality information. Clinicians have a potential role not only to direct patients to appropriate sites, but also to help to develop content on the Internet.

Urinary incontinence in children: botulinum toxin is a safe and effective treatment option

PurposeThis study’s aim was to assess the use of intravesical injection of botulinum neurotoxin type A (BoNT-A) as a treatment of overactive bladder (OAB) in children.MethodsA 6-year retrospective study of children who received BoNT-A for OAB was performed. Treatment outcome was classified as complete success (CS), partial success (PS) or treatment failure (TF).ResultsOf the 57 patients who received BoNT-A treatment for OAB, 35 were males. CS occurred in 74.2% of males and 54.5% of females. PS was achieved in 20% of males and 18.2% of females. TF occurred in 2.9% of males and 22.7% of females. Anticholinergics had previously been used and had been effective in 58.6% and 83.3% of males and females. Significant side effects to medications were experienced in 12 (41.4%) males and 4 (22.2%) females. Of these, BoNT-A achieved CS in seven (53.3%) males and two (50%) females and PS in three (25%) males and one (25%) female. BoNT-A was successful in seven (58.3%) males and two (66.7%) females where anticholinergics were ineffective.ConclusionsBoNT-A has a role in a carefully selected subgroup of children with overactive bladder symptoms including those with medication side effects and treatment compliance issues. It may have a role in patients who do not respond to conventional therapy.

Does Functional Outcome Improve with Time Postsurgery for Hirschsprung Disease

PURPOSE Constipation and incontinence are significant problems following pull-through surgery for Hirschsprung disease (HD). There is evidence that these problems improve with time. However, there is also evidence showing no improvements and furthermore, significant long-term data are lacking for the newer endorectal pull-through. We aim to determine if there is clinical evidence that show improvements in functional outcomes with time after an endorectal pull-through surgery for HD. METHODS We utilized the validated pediatric incontinence and constipation scoring system (PICSS) to score 51 consecutive children 3 months to 15 years posttransabdominal or transanal endorectal pull-through for HD. Cases of total colonic aganglionosis and Down syndrome were excluded. PICSS scores below the age-specific lower limit 95% confidence interval scores represent incomplete continence or constipation, respectively. We performed linear regression to analyze the relationship between PICSS scores and the follow-up duration and then compared the demographics of children with and without incomplete continence and constipation, respectively. Significance was set at p < 0.05. RESULTS The median age at PICSS interview was 71 months (range, 6-191 months). Incontinence scores obtained from 42 children older than 35 months showed a positive relationship with the follow-up duration (p = 0.03). Constipation scores obtained from 51 children were unrelated to follow-up duration (p = 0.486). When demographics were compared, the continent children had longer follow-up than those with incomplete continence (mean, 111.64 vs. 69.19 months; p = 0.051), however follow-up duration did not differ in the group of constipated children compared with the nonconstipated group (mean, 61.88 vs. 71.80 months; p = 0.321). CONCLUSION These findings suggest that after an endorectal pull-through, improved continence should be expected with time but constipation often continues to be an ongoing problem.

Congenital Fibrosarcoma of the Ileum: Case Report with Molecular Confirmation and Literature Review

Congenital fibrosarcoma is a rare, soft tissue malignancy of infancy, most commonly involving the distal extremities. We report a case of congenital fibrosarcoma of the ileum in a 5-day-old boy who presented with an acute abdomen due to ileal perforation. Partial ileal resection was carried out with successful anastomosis. Grossly, the resected small bowel showed focal luminal stenosis with a thickened, indurated wall. Histology showed a transmural primitive spindle cell proliferation with a morphology consistent with congenital fibrosarcoma. The associated hallmark chromosomal translocation t(12;15)(q13;q25) was demonstrated by reverse transcriptase polymerase chain reaction.

Appendicitis in preschool children

Appendicitis in preschool children, although uncommon, is associated with a high perforation rate and increased morbidity. Of 132 preschool children treated for appendicitis over a 5-year period, 63 (47.7%) had perforations and 29 (22.0%) had an appendiceal mass. Although classic symptoms were present in the majority of the patients, atypical symptoms were found in many children and included diarrhoea (35), cough/sore throat (15), dysuria (4), headache (2), and earache (2). A diagnosis other than appendicitis was suspected by attending medical practitioners in 53 (40%) patients, leading to delay in management. Mean duration of symptoms before admission was as follows: acute appendicitis 38.9 h, perforation 52.6 h, and appendix mass 81.7 h. Ten (7.6%) patients developed postoperative complications that included wound infection in 5, intra-abdominal abscess in 4, and adhesive intestinal obstruction in 1. A high index of suspicion of appendicitis is necessary in preschool children in view of the atypical presentation and high incidence of advanced appendicitis and morbidity.

Gonadoblastoma in patients with 45,X/46,XY mosaicism: A 16-year experience.

BACKGROUND It is recognised that individuals with a 45,X/46,XY karyotype, known as Turner mosaic syndrome with Y chromosome material (TMSY), have an increased risk of developing gonadoblastoma (GB), which may then devolve into one of a number of germ cell malignancies. Hence, children with TMSY are usually recommended to undergo prophylactic gonadectomy. OBJECTIVE We designed this study to describe the phenotypic features of our series of children with TMSY who underwent prophylactic gonadectomy in order to evaluate the prevalence of GB and germ cell malignancies in their resected specimens. STUDY DESIGN This is a retrospective case series wherein we comprehensively reviewed the clinical, histological, and cytogenetic features of all patients who underwent prophylactic gonadectomy at three tertiary paediatric referral centres over 16 years. Cases were identified from surgical logbooks and through the institutional histopathology database. Data were collected with particular reference to clinical phenotype, predominant karyotype cell line, operative management, anatomical findings and the presence of neoplastic changes. RESULTS Fourteen children ranging in age at the time of surgery from 2 weeks to 17 years were included in the series. Eleven children were reared as females. The three children who were reared as males had severe penoscrotal hypospadias. The 46,XY cell line was the predominant cell line in seven (50%) cases in blood lymphocytes. The resected specimens from four patients (28.6%) contained GB, with three patients having bilateral GB. This sub-group of patients with GB were aged 5 months, 48 months, 71 months, and 13 years. GB arose in one patient with and three patients without genital virilisation. There was no focus of invasive germ cell tumour in any specimen. DISCUSSION GB may be present in infants with TMSY as young as 5 months, even with low levels of Y chromosome material. The prevalence of GB in prophylactic gonadectomy specimens is similar to many previously reported series, although the absence of dysgerminoma in our series is reassuring. The exclusive presence of GB in intra-abdominal gonads is in keeping with the findings of several other series. CONCLUSION Owing to the presence of gonadoblastoma in the gonads of children with TMSY as young as 5 months, we recommend that all patients with intra-abdominal gonads in the context of TMSY should duly undergo prophylactic gonadectomy, although the timing of such surgery can be discussed with parents during counselling regarding the risk of malignancy.

Publication patterns on neonatal surgery over 65 years

BACKGROUND/PURPOSE Staying abreast of the literature in a given speciality is difficult. The aim of this study is to analyze the publication patterns of the neonatal surgical literature over the last six decades. MATERIALS A search strategy for the Web of Science database was designed using MeSH defined terms for 10 index neonatal surgical conditions, with output analyzed over two time-periods. RESULTS There were 6215 and 6144 publications for periods 1 (1945-1994) and 2 (1995-2010), respectively. There were 24 and 546 articles published in 1945 and 2010, respectively. The mean citation counts of the top 50 publications are 228 and 156 for periods 1 and 2, respectively. There were 6 and 11 authors with two or more publications in the top 50 list in periods 1 and 2, respectively. Three of the pediatric surgery journals cumulatively have published 30.9% of the total articles. CONCLUSIONS Publication patterns for neonatal surgical conditions have changed significantly over time. The majority of articles are published outside of pediatric surgical journals. Pediatric surgeons should not limit their reading to these journals.

Spermatogenesis in a Prepubertal Boy

Michael J O’Grady MRCPI Niamh McGrath MRCPI Fergal M Quinn MD FRCSI Michael L Capra FRCPCH Michael B McDermott Nuala P Murphy Department of Endocrinology & Diabetes, Childrens University Hospital, Temple St. Dublin 1 Department of Surgery, Our Lady’s Childrens Hospital, Crumlin, Dublin 12 Department of Oncology, Our Lady’s Childrens Hospital, Crumlin, Dublin 12 Department of Histopathology, Our Lady’s Childrens Hospital, Crumlin, Dublin 12