Pyloric Stenosis

BackgroundContiguous gene deletion syndrome at Xp22.3 resulting in nullisomy in males or Turner syndrome patients typically encompasses the steroid sulfatase gene (STS) and contiguously located other genes expanding the phenotype. In large deletions, that encompass also the Kallmann syndrome 1 gene (KAL1), occasionally infantile hypertrophic pyloric stenosis (IHPS) and congenital anomalies of the kidney and urinary tract (CAKUT) have been reported.Patient presentationWe report on a male newborn with family history in maternal uncle of renal abnormalities and short stature still without ichthyosiform dermatosis. The baby presented CAKUT with kidney failure and progressive vomiting. Renal bicarbonate loss masked hypochloremic and hypokalemic metabolic alkalosis classically present in IHPS and delayed its diagnosis. Antropyloric ultrasound examination and cystourethrography were diagnostic. After Fredet-Ramstedt extramucosal pyloromyotomy feeding and growing was regular and he was discharged home. Comparative whole-genome hybridization detected a maternal inherited interstitial deletion of 1.56 Mb on Xp22.31(6,552,712_8,115,153) × 0 involving the STS gene, but not the KAL1 gene.ConclusionsAberrant cholesterol sulfate storage due to STS deletion as the underlying pathomechanism is not limited to oculocutaneous phenotypes but could also lead to co-occurrence of both IHPS and kidney abnormalities, as we report. Thus, although these two latter pathologies have a high incidence in the neonatal age, their simultaneous association in our patient is resembling not a chance but a real correlation expanding the clinical spectrum associated with Xp22.31 deletions.

PurposeMacrolide antibiotics, erythromycin, in particular, have been linked to the development of infantile hypertrophic pyloric stenosis (IHPS). Our aim was to conduct a systematic review of the evidence of whether post-natal erythromycin exposure is associated with subsequent development of IHPS.MethodsA systematic review of postnatal erythromycin administration and IHPS was performed. Papers were included if data were available on development (yes/no) of IHPS in infants exposed/unexposed to erythromycin. Data were meta-analysed using Review Manager 5.3. A random effects model was decided on a priori due to heterogeneity of study design; data are odds ratio (OR) with 95 % CI.ResultsNine papers reported data suitable for analysis; two randomised controlled trials and seven retrospective studies. Overall, erythromycin exposure was significantly associated with development of IHPS [OR 2.45 (1.12-5.35), p = 0.02]. However, significant heterogeneity existed between the studies (I 2 = 84 %, p ConclusionThis study demonstrates a significant association between post-natal erythromycin exposure and development of IHPS, which seems stronger when exposure occurs in the first 2 weeks of life.

ObjectiveThis study aimed to describe the clinical characteristics of patients with infantile hypertrophic stenosis, management and its outcome in two tertiary care centres in Cameroon.ResultsA total of 21 patients were included from the two centres. The mean age at presentation was 5.2 ± 1.2 weeks, predominantly male with a male-to-female ratio of 4.25:1. The triad of vomiting, visible peristalsis and palpable mass was present in only 7 (33.3%) of the participants. The diagnosis was confirmed with ultrasounds in all participants. Ramstedt pyloromyotomy was done in all participants and in 9.5% of the participants it was complicated by intra-operative duodenal perforation whereas in the postoperative period the most common complications were vomiting (6, 28.6%), sepsis (2, 9.5%), and paralytic ileus (2, 9.5%). The mortality rate from the series is 9.5%. According to univariate logistic regression: severe dehydration [OR = 5.41, 95% CI = (3.11-6.97), p = 0.002], hypokalaemia [OR = 2.63, 95% CI = (1.02-5.91), p = 0.042] and surgical site infection [OR = 3.12, 95% CI (1.22-5.64), p = 0.023] were the main predictors of mortality whereas postoperative hospital length of stay > 5 days was significantly associated with surgical site infection [OR = 2.44, 95% CI = (1.12-6.44), p = 0.002] and postoperative nausea and vomiting [OR = 3.64, 95% CI = (1.18-6.64), p = 0.022].

PurposeTo evaluate whether supervised pediatric surgery trainees can safely perform laparoscopic pyloromyotomy (LP) and to assess the influence of trainee participation within the institutional learning curve.MethodsA retrospective single-center cohort included all infants undergoing LP between June 2011-2025. Cases were categorized as specialist- or trainee-performed (eight pediatric surgery specialists, three supervised trainees). Baseline characteristics, operative variables, surgery-related complications, incomplete pyloromyotomy, postoperative recovery, reintervention, and readmission were compared. Temporal trends and institutional CUSUM analysis were performed.ResultsSeventy-seven infants were included (45 specialist-operated, 32 trainee-operated). Baseline characteristics were similar. Operative time was longer for trainees (45 versus 40 min, p = 0.037). Surgery-related complications occurred in 11.1% of specialist cases and in none of the trainee cases (p=0.07). All five complications (two wound infections, one incisional omental exteriorization, and two mucosal perforations) occurred with specialists. One incomplete pyloromyotomy occurred (trainees). The composite adverse outcome rate was 11.1% (specialists) versus 3.1% (trainees) (p = 0.39). Feeding progression, length of stay, reoperations and readmissions were comparable. CUSUM analysis demonstrated no adverse drift after trainee integration.ConclusionSupervised trainees safely performed LP with outcomes comparable to specialists. Slightly longer operative time did not impact recovery. Early trainee involvement did not compromise patient safety or institutional performance.