Hirschsprung disease in twins: A case series

Introduction: Hirschsprung's disease (HD) occurs secondary to failed migration of neural crest cells in embryonic life and results in a dysfunctional, mechanically obstructed colon. Despite an increased occurrence amongst family members, predominantly amongst siblings, HD in twins is extremely rare with approximately 21 total cases documented in the literature. Case presentations: This case series includes 2 cases of concordant expression of HD in twins: one dizygotic set and the other monozygotic. This is contrary to prior studies which suggest that monozygotic twins more frequently exhibit disease discordance, where one twin is affected while the other is not, over disease concordance. In each case, the twins demonstrated either variability in presentation or location of pathology, which ultimately delayed diagnosis and further management. The complex etiology makes it difficult to predict the likelihood of disease inheritance. A comprehensive literature review is also included to consider the rarity of this occurrence and evaluate the variation of concordant disease expression. Conclusion: Further understanding of the inheritance pattern will help guide management and provide us with more information for genetic counseling

Staged surgical management and its impact on quality of life for stage 3 hidradenitis suppurativa in adolescents

Background: Hidradenitis suppurativa (HS) can present significant physical, psychological, social, and financial burden. Here, we describe surgical and quality of life outcomes for adolescent patients with axillary Hurley stage 3 HS who underwent staged surgical management. Methods: We performed a single-center, retrospective review of patients ≤21 years who had axillary Hurley stage 3 HS. A standardized, staged surgical approach was implemented. Primary outcomes were length of stay, length of negative pressure wound therapy (NPWT) use, number of operations, range of motion, and graft uptake. Secondary outcome was depression, suicidal ideation, and social changes including return to school or work. Results: Nine adolescent female patients with axillary Hurley stage 3 HS were included, of whom 6 underwent surgery (9 total sites) and 3 remained on medical therapy. Patients had 6.5 ± 4.6 visits to the emergency department prior to surgery referral and had undergone 7.5 ± 5.1 incision and drainage procedures. For patients undergoing surgical management, NPWT duration was 23 ± 4 days, with 2–3 NPWT changes. Graft uptake was 80–100 % with 100 % return of full range of motion. No disease recurrence has been noted. All patients undergoing surgical management reported improvement in depression and suicidal ideation. Conclusion: Well-defined staged surgical approach for axillary Hurley stage 3 HS can offer adolescent patients disease eradication, improvement in range of motion, and improvement in quality of life. Study type: Retrospective review, case series. Level of evidence: IV

Segmental Absence of Intestinal Musculature in a Child with Type IV Ehlers–Danlos Syndrome

Patients with vascular Ehlers–Danlos syndrome (vEDS) have a defect in the formation of type III collagen. This defect puts patients at risk of vascular rupture, uterine rupture, and bowel perforations. The segmental absence of intestinal musculature is a rare histopathologic finding, wherein there is a lack of a muscularis propria layer in the intestinal wall. Although typically documented in the literature in neonates or adults, it can be seen in children of other ages. This is a case report of a patient who exhibits both rare entities, which has not been described in the literature to date

Neonatal sepsis

This chapter examines the definition, epidemiology, pathophysiology, diagnosis, management, and outcome of neonatal sepsis. Sepsis was classically described in the adult patient with a Gram-negative infection who subsequently developed fever, hypotension with poor tissue perfusion, and ultimately multiple organ failure. Until recently, sepsis was defined as the presence of a systemic inflammatory response syndrome (SIRS) response coupled with a causative infection. Risk factors for neonatal sepsis can be divided into maternal and neonatal factors. Maternal contributors are more likely to be involved in early onset sepsis (EOS) than late onset sepsis (LOS) and have been divided into three categories: infection, colonization, and risk factors. Acute phase reactants and biomarkers can be measured in the evaluation of neonatal sepsis. Given the profound morbidity and mortality associated with neonatal sepsis, management should begin with prevention. The most significant prevention strategy has been the implementation of prenatal screening and administration of intrapartum antibiotics for group B Streptococcus (GBS) infection

Heller Myotomy Is Superior to Balloon Dilatation or Botulinum Injection in Children with Achalasia: A Two-Center Review

Introduction: Achalasia is an uncommon disorder in children. Currently, there is no consensus regarding the optimal treatment for achalasia. We investigate the effectiveness of symptom relief in patients who underwent endoscopic treatments versus Heller myotomy (HM). Methods: We conducted a retrospective review of all children (age 0–18 years) treated for achalasia at two pediatric hospitals from 2004 to 2014. Demographics, presenting symptoms, outcomes, and complications were analyzed. Results: Twenty-three patients (61% male) were identified with a mean age at diagnosis of 11.6 ± 5.0 years. About 47.8% of the cohort had no comorbidities. Common presenting symptoms included weight loss/failure to thrive (87.0%), emesis (69.6%), and dysphagia (69.6%). Mean time from symptom onset to diagnosis was 18 ± 18.9 months. Nine patients underwent laparoscopic HM as their primary treatment, whereas 14 received esophageal dilatation (ED) as their first-line therapy. Patients who underwent ED as their initial treatment were younger (9.92 versus 15.6 years, P  = .047). Patients who underwent HM were more likely to attain symptom resolution compared to those managed with ED alone ( P  = .004). Of the 14 patients who underwent ED initially, 10 subsequently required HM due to persistent symptoms. None of the 4 patients who underwent ED alone achieved long-term symptom relief and, on the average, required an increased number of procedures compared to their HM counterparts (5.25 versus 2.47, P  = .010). There was a trend toward increased intraoperative mucosal perforation in patients who underwent preoperative ED and botulinum injections. Conclusion: Our data suggest that HM is superior to balloon dilatation or botulinum injection in children with achalasia. We conclude that HM should be recommended for newly diagnosed children with achalasia as a first-line therapy

Timing of mortality in pediatric trauma patients: A National Trauma Data Bank analysis

© 2017 Elsevier Inc. Background/purpose: The classic “trimodal” distribution of death has been described in adult patients, but the timing of mortality in injured children is not well understood. The purpose of this study was to define the temporal distribution of mortality in pediatric trauma patients. Methods: A retrospective cohort of patients with mortality from the National Trauma Data Bank (2007–2014) was analyzed. Categorical comparison of ‘dead on arrival’ ‘death in the emergency department’ and early (≤ 24 h) or late (\u3e 24 h) inpatient death was performed. Secondary analyses included mortality by pediatric age, predictors of early mortality, and late complication rates. Results: Children (N = 5463 deaths) had earlier temporal distribution of death compared to adults (n = 104,225 deaths), with 51% of children dead on arrival or in ED compared to 44% of adults (p \u3c 0.001). For patients surviving ED resuscitation, children and adolescents had a shorter median time to death than adults (1.2 d and 0.8 days versus 1.6 days, p \u3c 0.001). Older age, penetrating mechanism, bradycardia, hypotension, tube thoracostomy, and thoracotomy were associated with early mortality in children. Conclusions: Injured children have higher incidence of early mortality compared to adults. This suggests that injury prevention efforts and strategies for improving early resuscitation have potential to improve mortality after pediatric injury. Level of evidence: Level III: Retrospective cohort study

Timing of mortality in pediatric trauma patients: A National Trauma Data Bank analysis

© 2017 Elsevier Inc. Background/purpose: The classic “trimodal” distribution of death has been described in adult patients, but the timing of mortality in injured children is not well understood. The purpose of this study was to define the temporal distribution of mortality in pediatric trauma patients. Methods: A retrospective cohort of patients with mortality from the National Trauma Data Bank (2007–2014) was analyzed. Categorical comparison of ‘dead on arrival’ ‘death in the emergency department’ and early (≤ 24 h) or late (\u3e 24 h) inpatient death was performed. Secondary analyses included mortality by pediatric age, predictors of early mortality, and late complication rates. Results: Children (N = 5463 deaths) had earlier temporal distribution of death compared to adults (n = 104,225 deaths), with 51% of children dead on arrival or in ED compared to 44% of adults (p \u3c 0.001). For patients surviving ED resuscitation, children and adolescents had a shorter median time to death than adults (1.2 d and 0.8 days versus 1.6 days, p \u3c 0.001). Older age, penetrating mechanism, bradycardia, hypotension, tube thoracostomy, and thoracotomy were associated with early mortality in children. Conclusions: Injured children have higher incidence of early mortality compared to adults. This suggests that injury prevention efforts and strategies for improving early resuscitation have potential to improve mortality after pediatric injury. Level of evidence: Level III: Retrospective cohort study