Diagnostic dilemma and challenges in management: Hirschsprung's disease, anal stenosis and reduced interstitial cells of Cajal enteric mesenchymopathy.

Hirschsprung's disease (HD) is one of the most well-known gastrointestinal motility disorders. Diagnosis and management of other lesser-known motility disorders are often challenging and tedious. We describe a teenager who was severely constipated from birth and needed intensive care admissions for life-threatening enterocolitis. She also had concomitant anal stenosis. Several rectal biopsies were unable to yield a conclusive diagnosis. Surgical level of resection had to be identified based on the motility of the bowel as determined by transit studies using oral ingestion of a milk feed labelled with Technetium-99m colloid. After completion of all operative stages, histopathological examination of the excised specimens concluded that she had short-segment HD associated with reduced interstitial cells of Cajal in the large bowel. She is currently continent, evacuating voluntarily approximately four times a day and is relieved of all her symptoms.

Meckel's Diverticulum - Clinical Presentation and Pitfalls in Diagnosis in the Pediatric Age Group in Singapore.

Purpose: The purpose of this study was to study the presentation of patients who underwent Meckel's diverticulectomy (MD) and utility of pertechnetate Meckel's scan in the diagnosis of MD. Methods: The clinical presentation of a retrospective cohort of patients who underwent MD from January 2007 to December 2019 was studied. The modes of presentation, treatment, and the diagnostic utility of pertechnetate Meckel's scans were evaluated. False-positive and false-negative scans were reviewed. The presence of gastric mucosa on histology of Meckel's was correlated with presentation as gastrointestinal bleeding and positive scan results. Results: Ninety-nine patients underwent MD. Thirty-five out of 263 (13.3%) Meckel's scans done were positive. There was a male preponderance (86.9%). The peak age of presentation was 0-4 years (rectal bleeding or intestinal obstruction). Only a third of the patients with Meckel's diverticulum Meckel's had a preoperative diagnosis of Meckel's. The sensitivity/specificity of Meckel's scan was higher in patients presenting with painless rectal bleeding. Seven patients were false positive (weak tracer uptake or ectopic uptake) and five were false negative. Two patients with false-negative Meckel's scan, having gastrointestinal bleeding had gastric mucosa on histology of Meckel's. Conclusion: Meckel's diverticulum has a male predominance. Meckel's scan has a high sensitivity in the children presenting with fresh painless rectal bleeding but is of limited use in the diagnosis of Meckel's diverticulum in other forms of presentations. False-positive scans can be anticipated in the presence of weak or ectopic uptake. False-negative scans can occur even in the presence of bleeding and in spite of the presence of gastric mucosa in the Meckel's diverticulum. Laparoscopy is a useful tool in diagnosis and treatment.

Occult Antenatal Fetal Abdominal Emergencies Resulting in Unplanned Preterm Delivery.

Acute abdomen in the fetus can present as nonspecific fetal distress, and occasionally necessitate emergency cesarean section for the mother and subsequent emergency neonatal surgery. Often, preoperative diagnosis in utero is challenging. The authors herein report two cases, a case of primary segmental antenatal intestinal volvulus resulting in the mother presenting at 35 wk with symptoms and decreased fetal movements, and another case of a rapidly distending fetal abdominal mass at 31 wk manifesting as fetal hydrops. The postdelivery newborn management issues are presented. Early identification by the maternal and neonatal team allows for early neonatal surgery and can reduce morbidity and mortality. This can be facilitated by advanced maternal and child health services and efficient patient transport systems.

Neuronal defects an etiological factor in congenital pelviureteric junction obstruction?

INTRODUCTION: Congenital pelviureteric junction obstruction (PUJO) is one of the most frequent causes of neonatal hydronephrosis. Obstruction at the PUJ has potential severe adverse outcomes, such as renal damage. While pyeloplasty has been established as the definitive treatment, the exact pathophysiology of congenital PUJO remains unknown. Recent research has proposed neuronal innervation defects as an etiological factor in congenital PUJO. We aim to study the expression of various neuronal markers in PUJO specimens compared with controls, and evaluate whether severity of renal disease or dysfunction pre-operatively is related to expression of neuronal markers in resected PUJO specimens. MATERIALS AND METHODS: All consecutive patients who underwent dismembered pyeloplasty at KK Women's and Children's Hospital, Singapore, for intrinsic PUJO from 2008 to 2012 were included. Patients with other co-occurring renal pathologies were excluded. Controls were obtained from nephrectomy patients with Wilm's tumor or other benign renal conditions during the same period. Specimens were stained immunohistochemically with neuronal markers protein gene product 9.5 (PGP9.5), synaptophysin, and S-100, and with CD-117, a marker for interstitial cells of Cajal (Table). Levels of expression of the markers were assessed semiquantitatively (decreased, increased or no change) in comparison with controls by two independent observers. Pre-operative data of patients' renal anatomical (ultrasonography measurements of renal pelvis size) and functional parameters (differential renal function measured using MAG-3 renal scans) were obtained. DISCUSSION: Thirty-eight PUJO specimens (38 renal units) and 20 controls were studied. Mean patient age at pyeloplasty was 25.3 months (2.9-167.6 months). Median pre-operative pelvic size was 25.0 mm (17.0-50.0 mm). Both PUJO specimens and controls showed great heterogeneity in distribution of innervation. All four immunohistochemical markers were not predictive of significant pre-operative renal pelvis dilation or pre-operative diminished renal function of the operated kidney. CONCLUSIONS: There exists marked variability in expression of neuronal markers synaptophysin, PGP9.5, and S-100, and CD-117 in PUJO specimens compared with controls. Our results show no clinical significance of the expression of neuronal markers in predicting degree of pre-operative renal pelvis dilation or differential renal function. The heterogeneity of expression of neuronal markers in PUJO specimens and controls in our population is at variance with prior studies. The etiology of PUJO is likely to be complex and multifactorial.

Traumatismo torácico en pediatría: atención a la aparición de un soplo / Pediatric chest injuries: take care on detecting a heart murmur

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The role of ischemia in necrotizing enterocolitis.

AIM: The role of ischemia in the pathogenesis of necrotizing enterocolitis (NEC) remains unclear. We used immunohistochemical markers of hypoxia to identify presence/absence of ischemia in NEC and spontaneous intestinal perforation (SIP) with clinical correlation. METHODS: Immunohistochemical staining was performed on 24 NEC and 13 SIP intestinal resection specimens using 2 hypoxia markers, hypoxia inducible factor 1α (HIF-1α) and glucose transporter 1 (GLUT1) and inflammatory markers, leukocyte common antigen (LCA) and myeloperoxidase. Ischemic score (0-6) from the sum of the HIF-1α and GLUT1 staining intensity grades was devised (positive ≥3). Inflammation was graded from the sum of LCA and myeloperoxidase grading. Relevant clinical information was obtained from hospital case records. RESULTS: Fourteen NEC specimens had positive ischemic score (4.6±1.2). The remaining 10 NEC (ischemic score 0.7±0.8) and all 13 SIP samples (ischemic score 0.5±0.5) were ischemic-negative. The ischemic-positive cases had classic NEC with multiple areas of bowel necrosis; were associated with later onset, enteral feeding and pneumatosis. In contrast, all ischemic-negative NEC were short-segment NEC with perforation. Their clinical profile was similar to the SIP cases with younger gestational age at birth, early onset, association with ibuprofen/indomethacin usage but not with feeding and pneumatosis. Ischemic scores are correlated with inflammation scores in mucosa but not submucosa. CONCLUSIONS: Ischemia as assessed with immunohistochemical markers HIF-1α and GLUT1, has a primary role in pathogenesis of classic NEC only, not in SIP or short-segment NEC with perforation. Better categorization of the different types of NEC can direct appropriate prevention and treatment strategies.

Transanal endorectal pull-through versus transabdominal approach for Hirschsprung's disease: a systematic review and meta-analysis.

AIM: Transanal endorectal pull-through (TERPT) has become popular for single-stage treatment of Hirschsprung's disease. The benefits of TERPT over the conventional transabdominal approach (TAB) are still unclear. We performed a comprehensive meta-analysis comparing the clinical outcomes of TERPT and TAB. METHODS: Original articles published from 1998 to 2012 were searched from Medline, Embase, and Cochrane databases. Randomized controlled trials (RCT) and observational clinical studies (OCS) comparing TERPT and TAB were included. Outcomes evaluated included operative time, hospital stay and incidence of postoperative incontinence/soiling, constipation and enterocolitis. Pooled odds ratios (OR) were calculated for dichotomous variables; pooled mean differences (MD) were measured for continuous variables. RESULTS: Of 93 studies, 1 RCT and 11 OCS were included, comprising 444 cases of TERPT and 348 cases of TAB (215 Soave, 94 Duhamel, 24 Swenson, 15 Rehbein procedures). TERPT had shorter operative time (MD=-57.85 min; 95% confidence interval [CI], -83.11 to -32.60; P<0.00001) and hospital stay (MD=-7.06 days; 95% CI, -10.95 to -3.16; P=0.0004). TERPT had less postoperative incontinence/soiling (OR=0.58; 95% CI 0.37-0.90; P=0.01) and constipation (OR=0.49; 95% CI 0.30-0.81; P=0.005). There was no difference in incidence of postoperative enterocolitis. CONCLUSION: TERPT is superior to TAB in operative time, hospital stay, postoperative incontinence and constipation. However, more randomized controlled trials are necessary to verify the benefit of TERPT for Hirschsprung's disease.

Association of angiotensin converting enzyme and angiotensin type 2 receptor gene polymorphisms with renal damage in posterior urethral valves.

OBJECTIVE: To examine the association with renal damage in patients with posterior urethral valves (PUV) of two renin-angiotensin system gene polymorphisms: angiotensin converting enzyme insertion/deletion (ACE I/D) and angiotensin type 2 receptor (AT2R A1332G), PATIENTS AND METHODS: In 120 patients with PUV, after stabilization, transurethral fulguration or a Blocksom vesicostomy was performed. Records were reviewed for age at diagnosis, biochemical renal function at diagnosis, results of urine cultures, voiding cystourethrograms, radiologic, sonographic and nuclear medicine scan findings, and follow-up data. ACE I/D genotypes were determined by the polymerase chain reaction using allele specific primers. RESULTS: The frequency of the ACE DD genotype was significantly higher in patients with chronic kidney disease (P=0.02) and renal scarring (P=0.05). These genotypes were also associated with a statistically higher incidence of vesicoureteral reflux, diurnal incontinence, proteinuria and hypertension. A significantly higher frequency of the AT2R GG genotype was found in PUV patients as compared to healthy unrelated control subjects (P=0.001), and in PUV patients with scarring (P=0.02). CONCLUSION: The ACE DD and AT2R GG genotypes are associated with chronic kidney disease and scarring in PUV patients. The GG genotype incidence is higher among PUV patients compared to the control population, and further studies in this area may help understanding of the genetic basis of PUV.