ABSTRACT
Hirschsprung disease (HSCR) is a rare congenital intestinal disease that occurs in 1 in 5,000 live births. HSCR is characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the intestine. Most patients present during the neonatal period with the first meconium passage delayed beyond 24 h, abdominal distension and vomiting. Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. Multiple putative genes are involved in familial and isolated HSCR, of which the most common are the RET proto-oncogene and EDNRB. Diagnosis consists of visualization of a transition zone on contrast enema and confirmation via rectal biopsy. HSCR is typically managed by surgical removal of the aganglionic bowel and reconstruction of the intestinal tract by connecting the normally innervated bowel down to the anus while preserving normal sphincter function. Several procedures, namely Swenson, Soave and Duhamel procedures, can be undertaken and may include a laparoscopically assisted approach. Short-term and long-term comorbidities include persistent obstructive symptoms, enterocolitis and soiling. Continued research and innovation to better understand disease mechanisms holds promise for developing novel techniques for diagnosis and therapy, and improving outcomes in patients.
Subject(s)
Down Syndrome , Hirschsprung Disease , Intellectual Disability , Waardenburg Syndrome , Infant, Newborn , Humans , Hirschsprung Disease/diagnosis , Hirschsprung Disease/genetics , Hirschsprung Disease/pathology , Down Syndrome/complications , Waardenburg Syndrome/complications , Anal Canal , Intellectual Disability/complicationsABSTRACT
OBJECTIVE: The goal of this systematic review by the American Pediatric Surgical Association Outcomes and Evidence-Based Practice Committee was to develop recommendations for the management of ileocolic intussusception in children. METHODS: The ClinicalTrials.gov, Embase, PubMed, and Scopus databases were queried for literature from January 1988 through December 2018. Search terms were designed to address the following topics in intussusception: prophylactic antibiotic use, repeated enema reductions, outpatient management, and use of minimally invasive techniques for children with intussusception. The Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) guidelines were followed. Consensus recommendations were derived based on the best available evidence. RESULTS: A total of 83 articles were analyzed and included for review. Prophylactic antibiotic use does not decrease complications after radiologic reduction. Repeated enema reductions may be attempted when clinically appropriate. Patients can be safely observed in the emergency department following enema reduction of ileocolic intussusception, avoiding hospital admission. Laparoscopic reduction is often successful. CONCLUSIONS: Regarding intussusception in hemodynamically stable children without critical illness, pre-reduction antibiotics are unnecessary, non-operative outpatient management should be maximized, and minimally invasive techniques may be used to avoid laparotomy. LEVEL OF EVIDENCE: Level 3-5 (mainly level 3-4) TYPE OF STUDY: Systematic Review of level 1-4 studies.