Suction Rectal Biopsy is Accurate in Late Preterm Infants with Suspected Hirschsprung Disease.

BACKGROUND: Few data are available to substantiate the dogma commonly held by pediatric surgeons and pediatric pathologists that rectal biopsies may be inaccurate or risky in preterm neonates. We aimed to address these concerns. METHODS: We performed a single-institution retrospective review of patients who underwent suction rectal biopsies at <37 weeks corrected age from 2009 to 2018. The primary outcomes were accuracy of biopsy results and procedural complications. RESULTS: Forty-nine patients underwent suction rectal biopsy at <37 weeks corrected age. Mean gestational age at biopsy was 35.2 weeks (range 32.1-36.9) and mean weight was 2126 g (range 1590-3100). Five (10%) infants had biopsies positive for Hirschsprung Disease. All 5 later underwent pull-through operations and had pathologic confirmation of an aganglionic segment. The remaining 44 (90%) had biopsies showing ganglion cells. None were later found to have HD during the follow up period. Those who underwent biopsy at <2000 g (16/44) had 100% sensitivity [95% CI 48, 100] and specificity [95% CI 92, 100] (2 true positives, 14 true negatives). There were no complications identified. CONCLUSION: Suction rectal biopsy can be performed safely in preterm infants as small as 1590-2000 g with high accuracy. Clinicians should not hesitate to perform a biopsy for a premature infant when clinically appropriate. TYPE OF STUDY: Study of a diagnostic test. LEVEL OF EVIDENCE: Level IV.

Does Hirschsprung-Associated Enterocolitis Differ in Children With and Without Down Syndrome?

BACKGROUND: Children with Hirschsprung disease (HD) and Down syndrome (DS) are reported to experience a higher incidence of Hirschsprung-associated enterocolitis (HAEC) than those without DS, although whether their individual episodes are more severe is unknown. METHODS: A single-institution retrospective cohort study was performed on all patients with HD admitted with HAEC between 2009 and 2017. Patients were divided into two groups based on an associated diagnosis of DS, and demographics, clinical characteristics at presentation, and clinical outcomes were compared. RESULTS: Of 86 admissions for HAEC over the study period, 12 (14%) were for patients with DS. Patients admitted with and without DS were similar in terms of age (3.0 versus 2.6 y, P = 0.72), male gender (58% versus 77%, P = 0.17), and proportion with disease proximal to the left colon (9% versus 12%, P = 0.70). Patients admitted with DS were more likely to be tachycardic (75% versus 19%, P ≤ 0.001) and hypotensive (33% versus 7%, P = 0.01) at presentation and presented for treatment after a longer duration of symptoms than those without DS (84 versus 24 h, P = 0.001). Patients admitted with DS were more likely to require intensive care unit admission (58% versus 12%, P = 0.006) and received a longer course of antibiotics (13 d versus 7 d, P = 0.02). The length of stay was similar (6 versus 4 d, P = 0.34). CONCLUSIONS: The results of our study suggest that patients with DS experience more severe episodes of HAEC. Ongoing study is needed to identify preventive strategies to decrease the morbidity of HAEC in children with HD and DS.

Anal sphincter botulinum toxin injection in children with functional anorectal and colonic disorders: A large institutional study and review of the literature focusing on complications.

BACKGROUND AND AIM: Botulinum toxin (botox) is a commonly used treatment for functional anorectal and colonic disorders. Although generally regarded as safe, complications associated with botox injection into the anal sphincters in children with severe defecation disorders are not well described. We aimed to review our institutional experience and the existing literature to better understand the safety of this practice. METHODS: We performed a retrospective review of pediatric patients undergoing botox administration into the anal sphincter for treatment of a variety of defecation disorders between 2014 and 2018. Additionally, we performed a review of all published literature reporting complications from botox injection in this patient population. RESULTS: 881 patients ranging from 5 weeks to 19.7 years underwent a total of 1332 botox injections including our institution (332 patients/526 injections) and the reviewed series (549 patients/806 injections). Overall, complications were seen after 9 (0.7%) injections and included urinary incontinence (n = 5), pelvic muscle paresis (n = 2), perianal abscess (n = 1), pruritis ani (n = 1), and rectal prolapse (n = 1). Patient age, weight, and diagnosis were not associated with an increased rate of complication in our institutional experience. All complications were self-limited and did not require intervention. There were no episodes of systemic botulinum toxicity. CONCLUSION: Botox injection into the anal sphincters is accepted practice in children with Hirschsprung disease, severe functional constipation, and internal anal sphincter achalasia and appears to be safe from this review. The precise dosing and age at which complications are more likely to arise could not be ascertained and require further study. LEVEL OF EVIDENCE: IV TYPE OF STUDY: Retrospective cohort study.