The Utility of Prophylactic Antibiotics for Laparoscopic Pyloromyotomy.

INTRODUCTION: Laparoscopic pyloromyotomy (LP) for the treatment of infantile hypertrophic pyloric stenosis (IHPS) is a clean case with low expected rates of postoperative surgical site infection (SSI). Previous studies have shown a low risk of SSI following LP but also large variations in the utilization of prophylactic antibiotics. The goal of this study was to review the use of preoperative antibiotics for LP and to compare this with SSI incidence. METHODS: We performed a retrospective single-center analysis of patients undergoing LP for infantile hypertrophic pyloric stenosis at a large quaternary children's hospital from January 2017 to June 2020. Subjects were <4 mo old. Exclusion criteria were those lost to follow-up within 30 d postoperatively and those who required open conversion intraoperatively. Statistical analysis was performed using Fisher's exact test, two-tailed independent t-tests, and descriptive statistics. RESULTS: Two-hundred twenty-seven patients were included, mean population age was 5.7 wk, and 81.1% were male. Preoperative antibiotics were administered in 39% of patients. Only 1.3% (n = 3) of all patients developed an SSI within 30 d of their operation. Analysis between patients who received preoperative antibiotics and those who did not revealed no difference in age (5.72 wk versus 5.72 wk, t (225) = 0.38, P = 0.70), sex (41% of males versus 32% of females, P = 0.39), length of stay (t(225) = -0.94, P = 0.35), or postoperative SSI (1.1% versus 1.4%, P > 0.999). Large variability was noted in antibiotic utilization by surgeon. CONCLUSIONS: In patients undergoing LP, there was no difference in SSI rates whether or not patients received preoperative antibiotics and, there is large variation in utilization. Measures are needed to decrease usage of prophylactic antibiotics before LP.

Treatment outcome and associated factors of infantile hypertrophic pyloric stenosis at eastern Ethiopia public hospitals.

BACKGROUND: Infantile hypertrophic pyloric stenosis (IHPS) is a condition whose etiology is not clear, but it is characterized by progressive hypertrophy of the circular muscles of the pylorus with consequent obstruction of the gastric outflow, mostly in neonates and infants under the age of one year. OBJECTIVES: To assess the treatment outcome and associated factors of infantile pyloric sphincter stenosis among paediatric patients admitted to HFCSUH and JUSHYRH. METHODOLOGY: A retrospective patient record review with 78 participants was studied consecutively using a structured questionnaire. The data was processed and analyzed using Epi Info 7 and SPSS version 24. Descriptive analysis was done, and then associated factors to the outcome were assessed using logistic regression analysis. The association's significance was determined using an odds ratio with a 95% confidence interval and a P-value less than 0.05. The study period was from November 1st to 30th, 2022. RESULTS: The magnitude of unfavorable IHPS was 17.1% with a 95% confidence interval of 16.7-23.9%. Hypokalemia (AOR = 2.3, CI = 3.015-19.54), severe dehydration (AOR = 30.9, CI = 2.89-31.75), and delayed presentation (AOR = 7.37, CI = 2.761-12.08) were independent predictors. CONCLUSIONS: The study found a highly unfavorable treatment outcome with delayed presentation; dehydration and electrolyte disturbance were the main predictors of poor outcome. It is recommended to increase community awareness about non-bilious vomiting in infants and ensure high suspicion among healthcare providers. Moreover, following guidelines to correct fluid and electrolyte disturbances and managing these patients in the pediatric ICU postoperatively.

Comparison between umbilical and right upper transverse abdominal incisions for pyloromyotomy: a systematic review and meta-analysis.

The aim of this study was to compare the operative parameters and complication rates between the umbilical (UMB) and right upper quadrant (RUQ) skin incisions for Ramstedt's pyloromyotomy for the treatment of infantile hypertrophic pyloric stenosis (IHPS). PubMed, EMBASE, Web of Science and Scopus databases were systematically searched. The studies where any one of the main outcomes of interest, i.e., operative time, wound infection rate, mucosal perforation rate were reported were eligible for inclusion. The statistical analysis was performed using a random-effects model. The methodological quality of the studies was assessed utilizing the Newcastle-Ottawa Scale. Fifteen studies comprising 2964 infants were included. As compared to the UMB group, the RUQ group showed a significantly lower mean operative time (p = 0.0004), wound infection rate (p < 0.0001) and mucosal perforation rate (p = 0.02). Although UMB incision produces an almost undetectable scar, this approach results in significantly more complications. Therefore, the risks and benefits must be weighed and discussed with the caregivers in deciding the surgical approach in patients with IHPS. However, due to a poor methodological quality of nine out of fifteen studies, further studies need to be conducted for an optimal comparison between the two groups.

Effectiveness of two-dimensional shear-wave sonoelastography in the diagnosis and follow-up of infantile hypertrophic pyloric stenosis.

INTRODUCTION: We sought to determine the effectiveness and utility of two-dimensional shear-wave sonoelastography (2D-SW-SE) in the diagnosis and postoperative follow-up of infantile hypertrophic pyloric stenosis (IHPS). MATERIALS AND METHODS: Twenty-three infants were included in the study, 13 in the IHPS group and 10 in the control group (CG). Preoperative B-mode ultrasonography measurements (longitudinal length and single-wall thickness of the pylorus) and 2D-SW-SE measurements (pylorus tissue stiffness and shear-wave propagation speed) were compared between the groups. The infants with IHPS then underwent Ramstedt pyloromyotomy and were invited for follow-ups on the tenth day and the first, third, and sixth months postoperatively. Measurements taken at the follow-ups were compared with the preoperative values. RESULTS: No differences were found between the groups regarding age, gender, body weight, or week of birth. The pyloric lengths in the IHPS group were longer than in the CG (p < 0.001), and the single-wall thicknesses were thicker (p < 0.001). The pylorus in the IHPS group was four times stiffer than in the CG (27.4 kPa versus 7.66 kPa), and the shear-wave propagation speed in the tissue was higher (1.34 m/s versus 2.69 m/s; p < 0.001). Both values decreased over time in the IHPS group and were normal by the third postoperative month. CONCLUSIONS: 2D-SW-SE can be used as an assistive imaging tool alongside B-mode ultrasound for diagnosing IHPS. It can also be used to identify inadequate surgery by detecting whether the pyloric tissue has softened at follow-up.

Safety and benefit of ad libitum feeding following laparoscopic pyloromyotomy: retrospective comparative trial.

PURPOSE: In this study, we evaluated the impacts of ad libitum feedings on outcomes following laparoscopic pyloromyotomy in patients with infantile hypertrophic pyloric stenosis. METHODS: Pediatric patients with infantile hypertrophic pyloric stenosis who underwent laparoscopic pyloromyotomy were included. Patients were stratified into ad libitum and structured feeding groups. Primary outcomes were times from surgery completion to goal feeding and discharge. RESULTS: A total of 336 patients were included in the study with 63 patients (18.8%) in the ad libitum feeding group. The ad libitum feeding group experienced significantly shorter times from surgery completion to both goal feedings (10.7 h vs 18.7 h; p < 0.001) and hospital discharge (21.6 h vs 23.1 h; p = 0.008) compared to the structured protocol group. Postoperative emesis (47.% vs 30.8%; p = 0.011) was higher in the ab libitum cohort, but the rates of return to an emergency department and/or readmission (4.8% vs 2.2%; p = 0.26) were similar. CONCLUSION: Ad libitum feeding after pyloromyotomy decreases time to reach goal feeding and hospital discharge. While it may contribute to a higher incidence of emesis, it does not appear to significantly increase hospital readmission. Ad libitum feeding appears to be a safe and beneficial alternative to structured feeding protocols following pyloromyotomy. LEVEL OF EVIDENCE: III.

High-Resolution Ultrasound Study of Morphological Changes of the Pylorus in the Postoperative Cases of Infantile Hypertrophic Pyloric Stenosis.

AIMS: The aim of this study was to find & compare the pyloric Canal Length (CL), Pyloric muscle thickness (MT) by using the High Resolution Ultrasonography (HRUS) in Preoperative & postoperative period (after Ramstedt Pyloromyotomy) for Infantile Hypertrophic Pyloric Stenosis (IHPS). METHODS: From January 2018 to June 2019, we have performed HRUS for 40 patients of clinically diagnosed cases of IHPS. & Ultrasonography machine: Phillips HD 7 machine & Alpinion E-CUBE with 3-12MHz linear probe, 3.5-5 MHz curvilinear probe and 5-7.5 MHz sector probe were used. The sonographic criteria for positive IHPS are Pyloric muscle thickness (MT) > 3 mm, pyloric Canal length (CL) >14 mm. Postoperative MT & CL at 2 month, 4 month & 6 month were determined and results were analysed with the preoperative pyloric parameters. Statistical analysis used: Mean and standard deviation of values were obtained by using Microsoft excel and statistical significance was analysed by regression study of grouped variables showing p - value by Microsoft excel. RESULTS: Pyloric parameters (MT & CL ) gradually attain normal values over months and 80 % of patients showed resolution of pyloric MT & CL values by 6 months. MT assessment shows statistical significance at six months scan ( p- value <0.05). CONCLUSIONS: Serial postoperative HRUS in IHPS cases show gradual ( mostly by 6 months) resolution of pyloric parameters ( MT & CL ) to normal. MT appears to be a consistent parameter for serial assessment.

Risk factors for unsuccessful atropine therapy in hypertrophic pyloric stenosis.

BACKGROUND: I.v. atropine (IA) for infantile hypertrophic pyloric stenosis (IHPS) is a good alternative to pyloromyotomy but has not been broadly accepted. The lower success rate is one of the greatest disadvantages of IA. We investigated the risk factors for unsuccessful results following IA for IHPS. METHODS: Medical records of patients with IHPS who were admitted to Kimitsu Chuo Hospital between 2002 and 2016 and were initially given atropine sulfate were retrospectively reviewed. Atropine was given i.v. (0.1 mg/kg/day in eight divided doses). Oral feeding of milk was started with a small amount and increased in a stepwise fashion to full feed. IA therapy was defined as unsuccessful in the presence of projectile vomiting more than three times a day or intolerance to a predetermined amount of milk. RESULTS: Of the 48 patients with IHPS, 33 patients were successfully treated with IA and 15 patients needed surgical intervention. On univariate analysis the risk factors for unsuccessful IA therapy were younger age, lower bodyweight, and shorter duration of symptoms before diagnosis. On multivariate analysis age at diagnosis < 30 days was the only significant risk factor for unsuccessful IA therapy (OR, 5.7 l P = 0.03). CONCLUSIONS: Age at diagnosis < 30 days is a risk factor for unsuccessful IA therapy in IHPS. This might be considered when IA therapy is used for neonates with IHPS.

Developmental outcome at 3 years of age of infants following surgery for infantile hypertrophic pyloric stenosis.

PURPOSE: The study compared neurodevelopmental outcome at 3 years of age of infants with infantile hypertrophic pyloric stenosis (IHPS) who underwent pyloromyotomy with healthy control infants in New South Wales, Australia. METHODS: Infants with IHPS as well as controls were recruited between August 2006 and July 2008. Developmental assessments were performed using the Bayley scales of infant and toddler development (version III) (BSITD-III) at 1 and 3 years of age. RESULTS: Of the 43 infants originally assessed at 1 year, 39 returned for assessment at 3 years (90%). The majority were term infants (77%). Assessments were also performed on 156 control infants. Infants with IHPS scored significantly lower on four of the five Bayley subsets (cognitive, receptive and expressive language and fine motor) compared to control infants. Analysis of co-variance showed statistically significant results in favour of the control group for these four subsets. CONCLUSION: Compared with the outcomes at 1 year, infants with IHPS at 3 years of age continue to score below controls in four of the BSITD-III subscales. This suggests they should have developmental follow-up with targeted clinical intervention. There is a need for further studies into functional impact and longer term outcomes.

Our experience of laparoscopic pyloromyotomy with ultrasound-guided parameters.

Traditional management of infantile Hypertrophic Pyloric Stenosis is open pyloromyotomy after initial adequate resuscitation of the patient. From 1991, laparoscopic approach is considered feasible and safe. Today, diagnosis of hypertrophic pyloric stenosis is made most often made by ultrasound. With use of ultrasound-guided parameters (length of pyloric tumour and thickness of pyloric tumour), we could avoid 'incomplete pyloromyotomy' and 'mucosal perforation' (most common complications in laparoscopic approach) to achieve 100% adequacy and safety in laparoscopic pyloromyotomy.

Does metabolic alkalosis influence cerebral oxygenation in infantile hypertrophic pyloric stenosis?

BACKGROUND: This pilot study focuses on regional tissue oxygenation (rSO2) in patients with infantile hypertrophic pyloric stenosis in a perioperative setting. To investigate the influence of enhanced metabolic alkalosis (MA) on cerebral (c-rSO2) and renal (r-rSO2) tissue oxygenation, two-site near-infrared spectroscopy (NIRS) technology was applied. MATERIALS AND METHODS: Perioperative c-rSO2, r-rSO2, capillary blood gases, and electrolytes from 12 infants were retrospectively compared before and after correction of MA at admission (T1), before surgery (T2), and after surgery (T3). RESULTS: Correction of MA was associated with an alteration of cerebral oxygenation without affecting renal oxygenation. When compared to T1, 5-min mean (± standard deviation) c-rSO2 increased after correction of MA at T2 (72.74 ± 4.60% versus 77.89 ± 5.84%; P = 0.058), reaching significance at T3 (80.79 ± 5.29%; P = 0.003). Furthermore, relative 30-min c-rSO2 values at first 3 h of metabolic compensation were significantly lowered compared with postsurgical states at 16 and 24 h. Cerebral oxygenation was positively correlated with levels of sodium (r = 0.37; P = 0.03) and inversely correlated with levels of bicarbonate (r = -0.34; P = 0.05) and base excess (r = -0.36; P = 0.04). Analysis of preoperative and postoperative cerebral and renal hypoxic burden yielded no differences. However, a negative correlation (r = -0.40; P = 0.03) regarding hematocrite and mean r-rSO2, indirectly indicative of an increased renal blood flow under hemodilution, was obtained. CONCLUSIONS: NIRS seems suitable for the detection of a transiently impaired cerebral oxygenation under state of pronounced MA in infants with infantile hypertrophic pyloric stenosis. Correction of MA led to normalization of c-rSO2. NIRS technology constitutes a promising tool for optimizing perioperative management, especially in the context of a possible diminished neurodevelopmental outcome after pyloromyotomy.

Proper development of the outer longitudinal smooth muscle of the mouse pylorus requires Nkx2-5 and Gata3.

BACKGROUND & AIMS: Infantile hypertrophic pyloric stenosis is a common birth anomaly characterized by obstruction of the pyloric lumen. A genome-wide association study implicated NKX2-5, which encodes a transcription factor that is expressed in embryonic heart and pylorus, in the pathogenesis of infantile hypertrophic pyloric stenosis. However, the function of the NKX2-5 in pyloric smooth muscle development has not been examined directly. We investigated the pattern of Nkx2-5 during the course of murine pyloric sphincter development and examined coexpression of Nkx2-5 with Gata3 and Sox9-other transcription factors with pyloric-specific mesenchymal expression. We also assessed pyloric sphincter development in mice with disruption of Nkx2-5 or Gata3. METHODS: We used immunofluorescence analysis to compare levels of NKX2-5, GATA3, and SOX9 in different regions of smooth muscle cells. Pyloric development was assessed in mice with conditional or germline deletion of Nkx2-5 or Gata3, respectively. RESULTS: Gata3, Nkx2-5, and Sox9 are coexpressed in differentiating smooth muscle cells of a distinct fascicle of the pyloric outer longitudinal muscle. Expansion of this fascicle coincides with development of the pyloric sphincter. Disruption of Nkx2-5 or Gata3 causes severe hypoplasia of this fascicle and alters pyloric muscle shape. Although expression of Sox9 requires Nkx2-5 and Gata3, there is no apparent hierarchical relationship between Nkx2-5 and Gata3 during pyloric outer longitudinal muscle development. CONCLUSIONS: Nkx2-5 and Gata3 are independently required for the development of a pyloric outer longitudinal muscle fascicle, which is required for pyloric sphincter morphogenesis in mice. These data indicate that regulatory changes that alter Nkx2-5 or Gata3 expression could contribute to pathogenesis of infantile hypertrophic pyloric stenosis.

Infantile hypertrophic pyloric stenosis: does size really matter?

Pyloric stenosis is a common infantile disorder typically occurring between 2 weeks and 8 weeks of age. Presentation outside this range and in premature infants is uncommon and often atypical. We present three cases, a pair of premature twins and a 5.5-month-old infant with pyloric stenosis. We highlight that despite their difference in size and weight, ultrasound examination remains a reliable diagnostic tool. However, pyloric measurements should be interpreted in combination with the other dynamic features on ultrasound.

Laparoscopic pyloromyotomy: Lessons learnt in our first 101 cases.

AIM: To analyze our experience with laparoscopic pyloromyotomy for infantile hypertrophic pyloric stenosis for the lessons that we learnt and to study the effect of learning curve. MATERIALS AND METHODS: This is a retrospective analysis of case records of 101 infants who underwent laparoscopic pyloromyotomy over 6 years. The demographic characteristics, conversion rate, operative time, complications, time to first feed and post-operative hospital stay were noted. The above parameters were compared between our early cases (2007-2009) (n = 43) and the later cases (2010-2013) (n = 58). RESULTS: 89 male and 12 female babies ranging in age from 12 days to 4 months (mean: 43.4 days) were operated upon during this period. The babies ranged in weight from 1.8 to 4.7 kg (mean: 3.1 kg). Four cases were converted to open (3.9%): three due to mucosal perforations and one due to technical problem. The mean operative time was 45.7 minutes (49.7 minutes in the first 3 years and 43.0 minutes in the next 3 years). There were 10 complications-4 mucosal perforations, 5 inadequate pyloromyotomies and 1 omental prolapse through a port site. All the complications were effectively handled with minimum morbidity. In the first 3 years of our experience the conversion rate was 9.3%, mucosal perforations were 6.9% and re-do rate was 2.3% as compared to 0%, 1.7% and 6.9%, respectively, in the next 3 years. Mean time for starting feeds was 21.4 hours and mean post-operative hospital stay was 2.4 days. CONCLUSION: Laparoscopic pyloromyotomy is a safe procedure with minimal morbidity and reasonable operative times. Conversion rates and operative times decrease as experience increases. Our rate of inadequate pyloromyotomy was rather high which we hope to decrease with further experience.

Infantile Hypertrophic Pyloric Stenosis Without Metabolic Alkalosis: A Report of Two Cases.

Infantile hypertrophic pyloric stenosis (IHPS) is a condition typically characterized by hypertrophy of the pylorus, leading to gastric outlet obstruction and forceful, nonbilious vomiting in young infants. This case series reports two infants with IHPS who exhibited metabolic acidosis, deviating from the classical biochemical presentation of hypochloremic, hypokalemic metabolic alkalosis. The unusual occurrence of metabolic acidosis in these cases suggests the possibility of alternative or additional pathophysiological mechanisms at play. Such deviations from the expected biochemical profile highlight the complexity of IHPS and the need for a broader diagnostic perspective.

Predictive factors of negative outcome in initial atropine therapy for infantile hypertrophic pyloric stenosis.

BACKGROUND: The predictive factors of negative outcome in initial i.v. atropine (IA) therapy of infantile hypertrophic pyloric stenosis (IHPS) are unknown. Conservative therapy for IHPS is useful for infants because it does not have the risk of surgical and anesthetic stress, but some cases of atropine therapy result in failure. This study clarified the predictive markers of negative outcome in initial atropine therapy for IHPS. METHODS: Seventy-six patients with IHPS admitted from 1998 to 2011 were included in this study. The predictive risk factors of negative outcome in initial atropine therapy for IHPS were evaluated. RESULTS: Thirty-one patients initially underwent non-operative therapy for IHPS during the study period. Of the 31 patients, 18 (58%) ceased projectile vomiting (PV) with IA and subsequent oral atropine. Univariate analysis showed that lack of bodyweight gain before treatment, elevated urine potassium at admission, and PV occurring ≥5 times (PV ≥5) in total for 3 days from IA initiation were predictive risk factors for negative outcome in IHPS. Multivariate analysis identified only PV ≥5 in total for 3 days after IA initiation as independently associated with failure of atropine for IHPS. CONCLUSIONS: PV ≥5 in total for 3 days after IA initiation is a potential indicator of negative outcome of IA in IHPS patients. The present results provide valuable information for determining whether early surgical intervention for IHPS or initial atropine therapy is the best option.

Successful Treatment of Recurrent Pyloric Stenosis Using Balloon Dilation.

Infantile hypertrophic pyloric stenosis is a common surgical disease in infants, with an incidence of 2 to 5 cases per 1000 live births. It often presents with nonbilious projectile vomiting after feeding and a mid-epigastric mass in infants between the third and eighth weeks of life. Ramstedt pyloromyotomy remains the gold standard of treatment. Postoperative emesis is common; however, further evaluation for incomplete pyloromyotomy and recurrent pyloric stenosis should be conducted with prolonged, or new-onset postoperative emesis. While repeat pyloromyotomy is the standard of care for infants presenting with incomplete pyloric stenosis, treatment for the rare development of recurrent pyloric stenosis is not clearly outlined. Here, we report a successful balloon dilation procedure in an 8-week-old female with recurrent pyloric stenosis three and a half weeks after the initial laparoscopic pyloromyotomy.

Factors associated with pyloric hypertrophy severity and post-operative feeding and nutritional recovery in infantile hypertrophic pyloric stenosis.

BACKGROUND: To examine factors that affect the severity of pyloric hypertrophy, post-operative feeding and nutritional recovery in infantile hypertrophic pyloric stenosis (IHPS). METHODS: Medical records of infants diagnosed with IHPS at a single tertiary center between 2009 and 2018 were retrospectively reviewed. Clinical characteristics, biochemistry data and outcome were assessed for their association with the severity of pyloric hypertrophy and post-operative recovery. Nutritional recovery was assessed using weight-for-age status improvement after surgery. RESULTS: Eighty-five patients were recruited in this study. The mean pre-operative weight-for-age percentile was 18.2. Elevated bicarbonate was positively correlated with symptom duration (p = 0.007). Pyloric muscle thickness was significantly correlated with age, weight, and symptom duration (p = 0.004, 0.003, 0.008, respectively). The mean weight-for-age percentile increased to 41.6 by post-operative weeks 6-8. Pyloric muscle thickness was negatively correlated with nutritional recovery by post-operative weeks 6-8 (p = 0.003). In multivariable analysis, pyloric length related to nutritional recovery at week 1-2 postoperatively (OR = 1.42, p = 0.030, 95% CI = 0.03-1.94), and pyloric muscle thickness related to nutritional recovery at week 6-8 postoperatively (OR = 4.08, p = 0.032, 95% CI = 1.13-14.7). CONCLUSION: Our study indicated that favorable nutritional outcome and successful weight gain was observed 6-8 weeks after surgery in children with IHPS. Pyloric muscle thickness positively correlated with age, weight, symptom duration, and favorable nutritional recovery. Serum bicarbonate showed a positive correlation with symptom duration.

Infantile hypertrophic pyloric stenosis in Bosnia and Herzegovina: A retrospective cohort study from the largest tertiary care facility.

BACKGROUND: Infantile hypertrophic pyloric stenosis (IHPS) is the most common condition requiring surgery in infancy, but the etiology of IHPS is still unclear. The study aimed to analyze the epidemiological and clinical features of the infants with IHPS in our setting and determine the yearly trends in IHPS incidence in the Sarajevo Canton between 2007 and 2016. METHODS: We retrospectively analyzed epidemiologic, clinical, and operative data of all infants undergoing pyloromyotomy for IHPS over ten years in the largest tertiary care facility in Bosnia and Herzegovina. RESULTS: Fifty-three IHPS patients were diagnosed, yielding an overall incidence of 1.17 per 1000 live births (1.25 and 1.09 cases in 2007-2011 and 2012-2016, respectively). IHPS was more prevalent among male infants (ratio 6.6:1, p < 0.001). The mean age at onset of symptoms was 39.6 days (range, 17-107 days). The estimated median time from symptoms onset to hospitalization was 11 days (range, 1-17 days). The mean age at diagnosis was significantly longer in premature infants compared with term infants (p = 0.003). Both first-born rank and bottle-feeding were significantly associated with IHPS (p = 0.001 and p = 0.04, respectively). No seasonal variation associated with IHPS was detected (p = 0.25). No evidence was found of differences in the incidence of IHPS related to maternal age (p = 0.24) and smoking (p = 0.59). CONCLUSION: Our data indicate a declining trend and provide insights into the clinical characteristics of IHPS in Bosnia and Herzegovina. Most of the obtained results are in line with the published data and could improve the quality of local pediatric services.

A Case of Smith-Lemli-Opitz Syndrome Diagnosed with Hypertrophic Pyloric Stenosis.

Smith-Lemli-Opitz syndrome (SLOS) is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7) that results in an abnormality in cholesterol metabolism. SLOS is inherited as an autosomal recessive genetic disorder. In this case, we describe a 34-day-old patient with postnatal progressive projectile vomiting, diagnosed with hypertrophic pyloric stenosis, who was suspected to have SLOS during treatment clinical and biochemical profile. A 34-day-old patient with progressively worsening vomiting and abdominal distention, diagnosed as hypertrophic pyloric stenosis, was operated by pediatric surgery department. After operation, the patient required pediatric intensive care unit admission due to respiratory distress, anemia, hypoalbuminemia, and generalized edema. Physical examination of our patient revealed dysmorphic facial features, finger anomalies, sacral dimple, and ambiguous genitalia, with chromosomal determination as XY. Molecular genetic testing was performed, and mutations in the DHCR7 gene of homozygous c.1342G>A/p.Glu448Lys (rs80338864) were detected. Infants with progressive projectile vomiting, feeding problems, and multiple anomalies with dysmorphic facial anomalies may be suspected to have SLOS and their families should be advised to have genetic testing and genetic counseling.

Hypertrophic Pyloric Stenosis in Dizygotic Twins: Case Report.

Infantile hypertrophic pyloric stenosis (IHPS) is a disorder encountered in infancy that is caused by hypertrophy of the musculature of the pylorus of the stomach. It may present as partial or complete gastric outlet obstruction. Multiple previous literatures have discussed the incidences and variability in the presentation of IHPS. However, there are very few reports of IHPS occurring in dizygotic twins, especially dizygotic twins of different sexes. Here we present a very rare case of dizygotic twins (a male and a female) affected with IHPS. With this study, we aim to identify the factors that lead to variability in severity and onset of symptoms in dizygotic twins of the opposite sex. We also aim to pay special attention to the etiology and mechanism of development of IHPS in dizygotic twins of the opposite sex.