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This is a commentary on the manuscript titled “Early Management of Meconium Ileus in Infants with Cystic Fibrosis: A Prospective Population Cohort Study” by Long A-M, et al.

Visible Intestinal Peristalsis in a Neonate A male infant who was delivered at 28 weeks of gestation had bilious vomiting with abdominal distention and was unable to pass meconium. Physical examina...

Jejuno-ileal atresia is a main cause of neonatal intestinal obstructions, and minimal access technique is gaining popularity. Aim of this study was to perform systematic review of laparoscopic approach with regards its management efficacy. Pubmed® was searched using terms ‘jejunal’, ‘jejuno-intestinal atresia’, ‘laparoscopic’ or ‘laparoscopic-assisted’. Data collected included gender, age, weight, comorbidities, surgical technique, duration of surgery, complications, reoperation, mortality, parenteral feeding time. 5 articles (2004–2020) met the inclusion criteria with 63 neonates. Mean weight was 2.6 kg. There were n = 16 comorbidities: cardiac anomalies (n = 5), Meckel’s diverticulum (n = 2), meconium peritonitis (n = 4), unknown (n = 5). All patients had laparoscopic-assisted surgery, out of which n = 25 were single-port approach. Conversion was reported in n = 4 cases due to meconium ileus (n = 2), or significantly dilated bowel (n = 2). There were n = 7 complications (n = 1 sepsis, n = 2 anastomotic leaks, n = 1 cholestasis, n = 3 adhesive ileus). Two reoperations were necessary because of anastomotic dehiscence (n = 1) and adhesive ileus (n = 1). Mean parenteral feeding time was 13 days. There were three lethal outcomes, due to sepsis after anastomotic leak (n = 1), severe cardiac defect (n = 1), pneumonia and adhesive ileus (n = 1). Laparoscopic-assisted is opted for jejuno-ileal atresia when minimal access approach is preferred. It is fast and feasible technique, which offers better cosmesis, may result shorter length of operation and recovery. There is > 10% complication rate, which rarely require reoperation. Limitation of this approach are low weight babies with associated anomalies, or significantly dilated proximal bowels. These remain the main concern for laparoscopic-assisted surgery, which require open approach or conversion.

Microcolon is a radiographic feature of a low intestinal obstruction that result from intrauterine underutilization or what is term unused colon. The finding of microcolon on contrast enema study in newborn with distended abdomen usually suggests jejunoileal obstruction, jejunoileal atresia, meconium ileus, or occasionally totals colonic agangliosis. We are therefore presenting this case to highlight the wonders that imaging will perform in prompt diagnosis and management of this condition.

As improvements in nutritional and pulmonary care increase the life expectancy of cystic fibrosis (CF) patients, CF-associated liver disease (CFLD) is emerging as a cause of mortality. CFLD is the third leading cause of death in CF patients. We performed a search on PubMed and Google Scholar for published articles on CFLD. We reviewed the articles found in the literature search and gave priority to recent publications and studies with larger sample sizes. The prevalence of CFLD in the CF population is around 23% with a range of 2-62% and that prevalence increases linearly with age from 3.7% at age 5 to 32.2% at age 30. CFLD can present clinically in various ways such as hepatomegaly, variceal hemorrhage, persistent elevation of liver enzymes, and micro-gallbladder. Due to the focal nature of fibrosis in majority cases of CFLD, liver biopsies are sparsely performed for diagnosis or the marker of liver fibrosis. Although the mechanism of CFLD development is still unknown, many potential factors are reported. Some mutations of CFTR such as having a homozygous F508del mutation has been reported to increase the risk of developing CFLD and its severity. Having the SERPINA1 Z allele, a history of pancreatic insufficiency, a history meconium ileus, CF-related diabetes, or being male increases the risk of developing CFLD. Environmental factors do not appear to have significant effect on modulating CFLD development. Ursodeoxycholic acid is commonly used to treat or prevent CFLD, but the efficacy of this treatment is questionable.

Background/purpose : Intra hospital transfer of sick newborns is known to cause adverse events with potential morbidity. Interventions at the bedside in a sick neonate can reduce the need for transport and in turn, potential hazards of transfer. Our single institute experience of performing bedside laparotomies in unstable newborns is reported here. Materials and methods : Seven-year data was collected from electronic medical records. This was a retrospective comparative study with level III evidence. Twenty-eight neonates operated at bedside for intraabdominal sepsis due to Necrotising Enterocolitis (NEC), Spontaneous Intestinal Perforation (SIP), complicated meconium ileus and perforation secondary to atresias were included Group A. Group B had 60 neonates operated for similar indications in the conventional operation theatres. Results : The average corrected gestational age at surgery, associated co-morbidities, average volume of blood loss and duration of surgery were compared between the groups. Group A had lower weight at surgery (1098 vs 1872 gs), greater percentage of neonates on inotropic support (78% vs 20%) with requirement of High Frequency Ventilation (HFO) (50% vs none). A quarter of neonates (7 of 28) in Group A had NEC Totalis as against only one case in group B. There was 25% survival in group A and 76.67% in group B. The lower survival in group A can be attributed to lower weight at surgery, higher inotrope requirement and need for unconventional modes of ventilation. Conclusion : Bedside laparotomy is a feasible option in unstable neonates deemed unsuitable for transport.

Small intestinal obstruction in children can have a wide range of etiologies. Neonatal intestinal obstructions are often related to specific gastrointestinal pathology such as intestinal atresias, meconium ileus, meconium plug syndrome, small left colon syndrome, Hirschsprung disease, anorectal malformation, necrotizing enterocolitis, malrotation with midgut volvulus, incarcerated inguinal hernia, anterior abdominal wall defects and more. In older children, intestinal obstruction are also seen in the setting of intussusception, vitelline duct remnants, perforated appendicitis, malrotation with or without midgut volvulus, foreign bodies, tumors and more. This chapter will focus on post-operative adhesive small bowel obstruction (ASBO) in children including incidence, epidemiology, management and outcomes.

Fetal intestinal volvulus is a medical emergency with potentially fatal consequences thus requires a high index of suspicion and prompt intervention. Echogenic dilated bowels, Whirlpool/Coffee bean signs, polyhydramnios, fetal anemia, fetal ascites with aperistalsis, nonreaasuring CTG are few important diagnostic signs. Mostly it has been described without associated malrotation,as segmental volvulus due to malfixation of gut with or without associated anaomalies such as meconium ileus, CDH, abdominal wall defects. We describe for the first time a case of 1.9kg female fetus detected to have intestinal volvulus associated with multiple ileal atresias and mesenteric defect. The fetus had classical Whirlpool sign, polyhydramnios and anemia, was delivered by emergency Ceasarian Section, post natally detected to have tense abdomen, confirmed Whirlpool sign on post natal USG, underwent emergency laparotomy, resection of necrotic ileal loops & I-C junction and Jejuno-Colic anastomosis. Child adapted to elemental feeding with 50cm of Jejunum without Ileo-cecal valve without shortbowel syndrome. Importance of multidisciplinary perinatal care, possible intrauterine vascular accident in pathogenesis of atresia and fetal volvulus has been emphasized in the case report.

Although infants with meconium ileus usually present with apparent symptoms shortly after birth, the diagnosis of meconium ileus and cystic fibrosis (CF) may be delayed, awaiting newborn screening (NBS) results. We present the case of an 11-day-old term girl with delayed passage of meconium at 48 hours who had 2 subsequent small meconium stools over the following week. There was a normal feeding history and no signs of abdominal distension or distress. She then presented with an acute abdomen, decompensated shock, bowel perforation, and peritonitis, requiring multiple intestinal surgeries. Her NBS for CF was positive, and CF was ultimately confirmed with mutation analysis. Her course was complicated by prolonged parenteral feedings and mechanical ventilation via tracheostomy. The infant was managed with soy oil, medium chain triglycerides, olive oil, fish oil lipids and experienced only transaminitis without cholestasis and no chronic liver sequelae, with subsequent normalization of her transaminases without treatment. Because her only symptom was decreased stool output and NBS results were unavailable, the CF diagnosis was delayed until she presented in extremis. Delayed meconium passage and decreased stool output during the first week of life should lead to suspicion and additional evaluation for CF while awaiting NBS results. Careful monitoring is indicated to prevent serious, life-threatening complications. The use of soy oil, medium chain triglycerides, olive oil, fish oil lipids for infants requiring prolonged parenteral nutrition may also be considered proactively to prevent cholestasis, particularly for high risk groups.

Rationale: Congenital syphilis (CS) can manifest as a variety of clinical presentations according to the severity in symptomatic infants during neonatal period. Preterm neonates with CS may have more clinical evidences of infection and be more severely affected by CS compared with term ones. With increasing survival of markedly premature infants for recent decades, CS may be a challenging problem in those with severe manifestations associated with combined pathophysiologies of CS and prematurity. Patient concerns: A very low birth weight infant at 32 weeks gestation presented with an unusual CS presentation consisting of prematurity-associated severe neonatal morbidities including meconium obstruction, prolonged cholestatic jaundice with elevated liver enzymes, and disseminated intravascular coagulation with a bleeding diathesis, in addition to common or typical manifestations of CS. Diagnoses: Congenital syphilis. Interventions: Therapy consisting of a complete course of parenteral penicillin, blood component therapy, proximal ileotomy with inspissated meconium evacuation and distal loop ileostomy, and other conservative treatments. Outcomes: Resolution with normal gastrointestinal function and improved liver function was observed. Lessons: This case suggests that in premature infants CS may manifest as unusual severe neonatal morbidities that may result from combination of syphilitic pathologies and contributors or conditions associated with prematurity including multisystem immaturity.

The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, body mass index (BMI), the presence of meconium ileus (MI), diabetes, and severe liver disease) were compared in four groups: group 1—patients carrying c.3844T>C and severe class I or II variant in trans; group 2—3849+10kbC>T/F508del patients; group 3—F508del/F508del patients; and group 4—patients with W1282R and “mild” variant in trans. Based on the analyses, W1282R with class I or II variant in trans appears to cause at least as severe CF symptoms as F508del homozygotes as reflected in the early age of diagnosis, high sweat chloride concentration, insufficient pancreatic function, and low lung function, in contrast to 3849+10kbC-T/F508del compound heterozygotes having milder clinical phenotypes. The W1282R pathogenic variant is seemed to lead to severe disease phenotype with pancreatic insufficiency similarly to the F508del homozygous genotype.

We aim to evaluate the diagnostic performance and relationship between clinical characteristics, imaging findings, and final diagnosis for the neonatal contrast enema (CE). Retrospective 10-year review of all neonatal CEs including imaging findings, clinical information, indication, and final diagnosis from discharge summaries, surgical reports, and pathology (reference standard). Two blinded pediatric radiologists reinterpreted 366 CEs for obstruction, microcolon, rectosigmoid index (RSI), serrations, meconium, ileal cut-off, transition zone, diagnosis, and level of confidence. CE diagnostic performance was calculated versus reference standard. Diagnoses included Hirschsprung disease (HD) (15.8%), small left colon syndrome (14.8%), small intestinal atresia/colonic atresia (SIA/CA) (12.6%), meconium ileus (MI) (4.4%), and normal (48.9%). CE had a moderate specificity (87.7%) and low sensitivity (65.5%) for HD; abnormal RSI and serrations showed high specificities (90.3%, 97.4%) but low sensitivities (46.6%, 17.2%). CE showed high specificity (97.4%) and low sensitivity (56.3%) for MI blinded to cystic fibrosis status. Microcolon was specific (96.6%) but not sensitive (68.8%) for MI. CE showed highest PPV (73.1%) (specificity 95.6%, sensitivity 82.6%) for SIA/CA. Microcolon with an abrupt cut-off was specific (99.1%) but not sensitive (41.3%) for atresias. Neonatal CE demonstrates high specificities and low to moderate sensitivities across all diagnoses, with lowest performance in HD. None.

Introduction Meconium ileus (MI) is one of the most common causes of intestinal obstruction in newborns. It is the earliest clinical manifestation of cystic fibrosis (CF). MI is suspected if a baby fails to pass meconium shortly after birth and develops symptoms of bowel obstruction, such as distention of the abdomen or vomiting. MI can lead to bowel perforation, a twisting of the bowel, or inflammation and infection of the abdominal cavity. Objectives To find the incidence and prevalence of meconium ileus in cystic fibrosis patients and to report on the most common gene mutation of MI in CF patients. Methodology Retrospective review of the medical documentations of all MI patients during the period of 1989–2018. Results A total of 40 CF confirmed patients were presented with MI. Twenty-nine patients (71%) are alive and 11 patients (29%) died or lost to follow-up. The following CFTR mutations were found: Eight patients (20%) with c.2988+1G>A; Intron 18. Seven patients (17.5%) with c.1418delG; Exon 11. Five patients (12.5%) with c.579+1G>T; Intron 5. Four patients (10%) with c.1911delG; Exon 14. Four patients (10%) with c.1521_1523delCTT; Exon 11. Four patients (10%) with c.416A>T; Exon 13. Three patients (7.5%) with c.2421A>G; Exon 14. Two patients (5%) with c.3908A>C; Exon 21. One patient (2.5%) with c.3889dupT; Exon 24. One patient (2.5%) with c.1657C>T; Exon 12. One patient (2.5%) with c.2547C>A; Exon 14a. Eighteen patients (45%) were presented with vomiting, 38 patients (95%) had postnatal radiological findings, 7 patients (17.5%) had electrolytes imbalance. Five patients (12.5%) had cholestasis and 4 patients (10%) developed chronic liver disease. Thirty-five patients (79.5%) underwent surgical repair and 9 patients (20.5%) were treated medically. Mean age of operation was 2.25 (2) days. Of 9 patients, 6 (66.6%) were treated with gastrograffin enema, 2 patients (22.2%) with oral N-acetylcysteine and 1 patient (11.1%) with saline rectal wash. Thirteen patients (31.5%) required TPN. Five patients had recurrent operation. Conclusion CF and meconium ileus are commonly present in CF patients in Saudi Arabia. Prognosis is similar to other CFs without MI, if treated early. Thirty percent of our CF/MI patients have intronic mutations.

Background Meconium peritonitis is defined as aseptic chemical inflammation caused by intrauterine bowel perforation. The underlying causes of bowel perforation include intestinal atresia, midgut volvulus, intussusception, congenital bands, and meconium ileus. Case presentation Siblings with prenatally diagnosed meconium peritonitis of different etiologies were found. The elder sister was born at 36 + 6 weeks gestation with a birth weight of 3110 g. She was diagnosed with meconium peritonitis caused by ileal atresia. Two years later, the younger brother was born at 34 + 3 weeks gestation with a birth weight of 2850 g. He was diagnosed with meconium peritonitis caused by midgut volvulus. Conclusions Among the previously reported cases of meconium peritonitis, familial occurance of meconium peritonitis is extremely rare. We present a case of prenatally diagnosed meconium peritonitis in siblings to promote further understanding of its etiology and clinical course.

BACKGROUND: In Denmark, newborn screening (NBS) for cystic fibrosis (CF) was introduced on 1 May 2016. The implementation and results from the first 2 years of the national newborn CF screening program are presented.METHODS: The screening included immunoreactive trypsinogen (IRT), followed by evaluation for the F508del mutation when a value at or above the 50 ng/mL cutoff was present. In cases with a single F508del mutation or a very high IRT value above 145 ng/mL, next-generation sequencing of the CF transmembrane conductance regulator gene (CFTR) was performed.RESULTS: Of 126 522 newborn infants 126 338 were tested (99.85%), and 4730 samples (3.7%) were assessed for CFTR mutations. Twenty-six infants were screen-positive and referred for diagnostic follow-up of whom 22 were confirmed to have a CF diagnosis, four had one known and one CFTR allele with unknown pathogenicity, classified as cystic fibrosis screening positive inconclusive diagnosis (CFSPID), PPV 84.6%. One of the four children classified as CFSPID was later found to carry the two identified CFTR variants in cis and was reclassified as a carrier of CF. We found two false negatives; one exhibited an IRT level above the 50 ng/mL cutoff but was below the 145 ng/mL very high cutoff and with no F508del mutation present. The second false-negative fell below the 50 ng/mL IRT cutoff but was diagnosed shortly after birth on the basis of meconium ileus. Screening sensitivity, 91.7%. Two hundred thirty-two children were identified as carriers of CF, which is twofold above the estimated annual number of carriers. All but one carrier were heterozygous for the F508del CFTR mutation. Sixteen percent of the sequenced samples revealed rare CFTR variants, which were classified as nonpathogenic in relation to CF.CONCLUSIONS: During the first 2 years of NBS CF screening in Denmark, we identified close to the expected number of infants with CF using an algorithm based on IRT, presence of F508del mutation and comprehensive genetic analysis. CFSPID accounted for only a small minority, despite comprehensive CFTR sequencing, whereas more carriers than initially expected were identified.

Meconium plug syndrome was first reported by Clatworthy in 1956, describing a syndrome of colonic obstruction because of inspissated meconium. Meconium plug syndrome is also called functional immaturity of the colon. It is the most common form of functional bowel obstruction in the newborn, with an incidence of 1/500 newborns. This transient disorder is characterized by a delayed passage (> 24–48 h) of meconium and intestinal dilatation. In general, meconium plug syndrome is observed in premature newborns that are otherwise normal. Cystic fibrosis and Hirschsprung’s disease may be associated with meconium plug syndrome and should be excluded.

Neonatal intestinal obstruction is due to a variety of acquired or congenital causes, the most common of which is septic ileus. Mechanical causes include small and large intestinal atresias, anorectal malformations, intestinal malrotation/volvulus, incarcerated inguinal hernia, congenital bands, and intra-abdominal cysts. Functional causes include Hirschsprung's disease, meconium ileus, maternal substance abuse, metabolic conditions, and prematurity. The obstruction classically presents with bilious vomiting, abdominal distension, and failure to pass meconium. The mainstay of treatment is fluid resuscitation and gastric decompression, followed by surgical management in most cases, as bilious vomiting is to be considered as a surgical emergency until proven otherwise.

Cystic fibrosis is a multisystem and autosomal recessive disease, affecting mainly the respiratory, digestive, and reproductive systems, that is caused by mutations in the gene called cystic fibrosis transmembrane conductance regulator. From a functional aspect, mutations are grouped in five classes according to the defect: (I) biosynthesis of the protein, (II) maturation of the protein, (III) function of the protein, (IV) expression of the protein, and (V) quantity of the protein. Diagnosis is confirmed through two positive sweat tests, presence of two mutations in the CFTR gene, or an abnormal transepithelial membrane potential. Clinical presentation includes respiratory (nasal polyps, chronic sinusitis, recurrent wheezing or pneumonia, chronic cough, hemoptysis, bronchiectasis), gastrointestinal (meconium ileus, prolonged neonatal jaundice, malabsorption, rectal prolapse), and miscellaneous compromise (failure to thrive, edema and hyponatremia, digital clubbing, azoospermia, metabolic alkalosis, etc.). Neonatal screening has made possible the application of preventive care measures to improve prognosis. Different strategies have been implemented according to ethnic distribution, type of mutation, infrastructure, availability of trained personal and resources.

Introduction Cystic fibrosis neonatal screening (CFNS), based on double determination of immunoreactive trypsinogen ([IRT] [IRT1/IRT2]), has been available in Andalusia since May 2011. If screening is positive, a sweat test is performed, and if that is positive or inconclusive, genetic testing is requested. Objective To analyze CFNS, based on results from the first 4.5 years of the program. Materials and methods Prospective descriptive study of neonates undergoing CFNS. IRT levels, sweat chloride, and mutations were recorded. Statistical analysis was performed using SPSS 12.0. Results Between May 2011 and December 2016, 474,953 neonates underwent CFNS. Of these, 1087 (0.23%) had elevated IRT2. Since CFNS was introduced, 73 cases of cystic fibrosis were diagnosed; 60 were diagnosed by positive CFNS, and 13 were diagnosed by other means. In one case, the patient developed a typical clinical picture of cystic fibrosis, but had not undergone CFNS at the decision of the parents; the remaining 12 had a negative CFNS (false negatives). Of these, one patient was diagnosed before symptoms developed, as his twin brother had a positive CFNS result; another had chloride at the upper limit of normal, and was subsequently diagnosed with genetic testing before symptoms appeared; and 10 patients developed clinical signs and symptoms. Excluding patients with meconium ileus, sensitivity and specificity of the CFNS program were 85.71% and 99.78%, respectively. The incidence of the disease in Andalusia is 1/6506 live births. Conclusion These results are a basis for reflection on possible areas for improvement of the CFNS algorithm, and thought may be given to the introduction of genetic studies to increase sensitivity and reduce false positives.

Bilious vomiting in a newborn is a sign of bowel obstruction and can present with or without abdominal distention. The more proximal the obstruction is, the less distended the abdomen will be. A thorough physical exam followed by plain abdominal films often gives the diagnosis. Dilated loops of bowel or air fluid levels suggest the diagnosis of obstruction. Upper gastrointestinal or contrast enema study is often necessary to make a diagnosis. The causes of bilious vomiting in the newborn are duodenal, jejunoileal, and colonic atresias, meconium ileus, meconium plug, hypoplastic left colon, necrotizing enterocolitis, Hirschsprung disease and malrotation with midgut volvulus. The latter represents a neonatal emergency and prompt diagnosis and treatment are necessary to prevent rapid bowel necrosis.

Term neonatal bowel obstruction is common, and absence of treatment is potentially catastrophic. There is a relatively narrow differential diagnosis, with causes categorised as either low or high bowel obstruction. The commonest causes of low bowel obstruction include anorectal malformations (ARM), Hirschsprung's disease, ileal atresia, meconium ileus, meconium plug, and colonic atresia. The commonest causes of high bowel obstruction include duodenal atresia, duodenal stenosis/web, jejunal atresia, and malrotation with volvulus (and hypertrophic pyloric stenosis usually presenting in slightly older infants). Diagnosis can be decided using a step-wise binary decision tool that includes the appropriate imaging steps and evaluation of bowel calibre. This paper presents the decision-making tool from the presenting features, through plain radiographic findings and, where necessary, the additional radiological investigations to assist the general radiologist, novice paediatric radiologist and paediatric surgeon. The tool is pictorial, with the radiological findings accompanied by eight schematics, serving as a simplified visual aid for memorizing the imaging patterns of the differential diagnosis. The imaging and decision-making steps allow for a rapid, simplified diagnosis that can benefit patients by recommending when to perform surgery, when to perform further imaging, and when imaging can act in a therapeutic manner.

Hydrogen peroxide is a disinfectant commonly used for cleansing superficial wounds due to its oxidizing capacity. In the past, it has also been used for the management of meconium ileus in children as the oxidizing action of hydrogen peroxide potentiates peristalsis that relieves ileus or fecal impaction. The potential dangers were unknown till Pumphrey, in 1951, described the harmful effects of its use as an enema. We present a case of a 32-year-old female who was admitted for complaints of perianal pain. She used an enema, consisting of water and hydrogen peroxide, for constipation. It improved her symptoms but subsequently, she developed a burning sensation in her rectum. The patient had a colonoscopy which revealed severe proctitis up to 15 cm from the anal verge manifested by superficial mucosal ulceration, marked erythema, and edema with friable mucosa and hemorrhage. The patient was subsequently given mesalamine, and the symptoms resolved.

Association of posterior urethral valve with neonatal intestinal obstruction is rare; rarer still is its association with meconium ileus. A 1-day-old male presented with features of neonatal intestinal obstruction. Gastrografin enemas confirmed microcolon and were therapeutic. Later, the neonate developed overflow incontinence and deranged renal functions; micturating cystourethrogram confirmed posterior urethral valve. Cystoscopic valve fulguration was performed after stabilization; outcome was favourable.

Background Meconium ileus (MI) is one type intestinal obstruction due to inspissated meconium at the level of the terminal ileum. The purpose of this study is to present the non-ionizing ultrasound-guided approach for the treatment of meconium ileus. Materials and Methods This study was performed, prospectively, at Dr. Sheikh and Akbar children's Hospitals, Mashhad University of Medical Science (Mashhad city, Iran) from March 2017 to March 2018. The 21 newborn patients with suspicious meconium ileus were referred to Radiology department for contrast enema and ultrasound examination. The hydro colonic ultrasound-guided treatment was considered for four cases with simple form of meconium ileus. Ultimately, plain abdominal radiography was taken to documentation of entrance of solution to dilated proximal loop and evaluation of probable complications. Results: In ultrasound exam, air bubbles are floating in fluids on proximal dilated loops, and no air is seen in bowel loops contain inspissated meconium. Ultrasound showed a collapsed microcolon in addition to inspissated meconium as a hypoechoic beaded intraluminal material in comparison to adjacent bowel mucosa. During ultrasound-guided enema, overt distention of unused colon and ileum was seen with coating and detachment of meconium plaques from bowel wall and floating and movement of the plaques toward the dilated proximal loops. The successful treatment in our study was occurred in two-third of cases. Conclusion Ultrasound-guided hydrostatic (hydro colonic) treatment can be a non-ionizing nonsurgical procedure for successful treatment of newborns with uncomplicated meconium ileus.

Background/purpose In the few studies on intestinal complications and growth of cystic fibrosis (CF) patients with a history of meconium ileus (MI), operated MI has not been investigated separately. We aimed to investigate the incidence of long-term intestinal obstruction sequelae [constipation, distal intestinal obstruction syndrome (DIOS)] and growth in CF patients operated for MI. Methods Retrospective study (1989–2016) including operative diagnoses and procedures, constipation and DIOS events, yearly Body Mass Index (BMI) measurements. Outcomes were examined in subgroups operated for MI only and for MI with atresia and/or volvulus. Results Of 49 patients followed-up for 15 (mean) years, 5 (10.2%) developed constipation and 14 (28.6%) DIOS. BMI was within normal percentiles in 53 patients over a 10-year follow-up. MI only and MI with atresia and/or volvulus did not differ in constipation and/or DIOS incidence (11/34 vs. 7/15, p =0.39) or in BMI ( p =0.47). Cases with ileocecal valve resection (ICV-R) showed lower constipation and/or DIOS incidence than those without ICV-R (0/6 vs. 11/28, p =0.02) and no different BMI ( p >0.05). Conclusions CF patients operated for MI were in long-term risk for constipation/DIOS; their growth was normal. Interestingly, underlying atresia/volvulus neither increased constipation/DIOS risk nor affected growth. Strikingly, ICV-R showed no constipation/DIOS risk and no impact on growth. Type of study Retrospective comparative study. Level of evidence III.

BACKGROUND Intestinal disorders are common in very low-birthweight infants. The purpose of this study was to evaluate the impact of prophylactic oral Gastrografin® (diatrizoate acid) on meconium-related ileus (MRI) in extremely preterm infants. METHODS This was a retrospective case-control study of infants born extremely preterm at

Background : Meconium Ileus (MI) accounting for 9–33% of neonatal intestinal obstruction and one of the common cause of intestinal obstruction in neonate. Near about 50% can be present with various complications. Options for surgical management of MI include resection of dilated ileum with primary anastomosis, Bishop–Koop ileostomy, Santulli procedure or Mikulicz procedure and T tube ileostomy. In our center, before January 2015, mostly Mikulicz and few Bishop- Koop procedures were done for MI. But, the complications were high. From 2015, we started to perform T tube ileostomy and Bishop-Koop procedure in simple MI. In complicated cases Mikulicz and Bishop-Koop procedure were done and the scenario changed. This study was done to compare the outcome of MI surgery before and after January 2015.Methods: This was a retrospective study done in our center during January 2011 to December, 2016 (5 years). All cases were divided into two groups (Group-A: January 2011 to December 2014 and in Group-B: January 2015 to December 2016). Demographic data and surgical outcomes were compared.Results: Total 216 cases were included, in Group-A: 123 patients and others were in Group- B. Simple MI were 49% in Group-A and 56% were in Group-B. Complicated MI presented with small gut volvulus (43.3%) gangrene of loaded ileum (32.2%) perforation with peritonitis (37.8%) intestinal atresia with adhesions (16.3%) and meconium pseudocysts in 12 cases (16%). 11 patients had more than one complication. All the postoperative complications were found significantly high in Group-A except anastomotic leakage. Mortality was also significantly high in Group-A.Conclusion: Morbidity and mortality were significantly reduced with increasing practice of T tube ileostomy and Bishop-Koop procedure in simple and complicated Meconium ileus.Chatt Maa Shi Hosp Med Coll J; Vol.16 (2); July 2017; Page 5-8

Objective To review fetal MRI cases surgically proven to have meconium ileus (MI) and obstruction, describe the common fetal MRI findings that distinguish cases of complicated MI, and to compare these findings with surgical images and perinatal outcomes. Method We performed a retrospective review of all fetal MRI examinations and the corresponding medical record from our tertiary care children's hospital over an 18-month period. Postnatal management and outcomes were reviewed for these patients, and those patients with surgical or postmortem diagnosis of complicated MI were included in the study. Results Our analysis revealed 7 cases. In this cohort, 3 imaging features of the fetal bowel were repeatedly seen: gradient appearance of intraluminal bowel contents, abnormally localized meconium signal, and collapsed appearance of the colon on MRI. Surgical diagnoses confirmed MI. All live-born infants underwent surgical repair. Conclusion Fetal MRI should be included in the diagnostic algorithm of any pregnancy where fetal bowel obstruction is suspected to better risk stratify patients.

Background. Cystic fibrosis is a hereditary disease that occurs as a result of mutations in the regulator gene of chloride ion transmembrane transport (CFTR). Finding mutations in the CFTR gene is necessary for identification of the clinical features of cystic fibrosis. Objective. Our aim was to identify genotype-phenotype correlations between mutations of the first class of pathogenicity and clinical manifestations of cystic fibrosis based on studying the prevalence and structure of CFTR gene mutations. Methods. The study included children under 18 years with cystic fibrosis admitted to hospital between 2013 and 2017. Biallelic mutations in the CFTR gene were the noninclusion criterion. The CFTR gene variants were analyzed by next-generation sequencing method. Results. In 125 patients with cystic fibrosis, 59 different variants of the CFTR gene were detected, 11 of them not previously described. The most common was the deletion c.1521_1523del found in 98 (39.2%) of the 250 analyzed CFTR gene alleles and the deletion c.1545_1546del found in 22/250 (8.8%) alleles. It has been shown that the mutation c.1545_1546del, p.Y515* was more often found in children of the Chechen nation — odds ratio (OR) 139 (95% confidence interval 15–1,257). It has been established that meconium ileus, pancreatic deficiency and cirrhosis are more common in patients with mutations of the first category of pathogenicity: OR 3.9 (95% CI 1.0–15.0), 4.4 (95% CI 1.8–11.1), and 351 (95% CI 17.5–7,046), respectively. The association of CFTR gene mutations with the development of bronchiectases and polypous pancinusitis has not been found. Conclusion . Correlations between the genotype and clinical manifestations of cystic fibrosis in Russian children with CFTR gene mutations of the first class of pathogenicity have been established.

Background: Meconium ileus is a common form of congenital intestinal obstruction. The condition results from the accumulation of sticky inspissated meconium in distal ileum. In about half the cases, however, the pathologic condition is complicated by volvulus, gangrene, perforation with meconium peritonitis. Relief of the obstruction is commonly accomplished with a variety of operative procedures. A number of operative procedures are in use, including Bishop-Koop enterostomy, Mikulicz ileostomy and primary closure Objective: Aim of this study was to evaluate the outcome of meconium ileus and its complications in two commonly practiced enterostomy procedure. Method: In this retrospective study from July 2007 to Jun 2017, a total of 52 cases of meconium ileus were included. Diagnosis of suspected cases was confirmed after laparotomy. Two commonly practiced ileostomy procedure were Mikulicz ileostomy and Bishop Koop ileostomy in this study. Survivors of all primary enterostomy underwent ileostomy closure after 3-6 months. Result: Mikulicz enterostomy was done in 38 cases and Bishop Koop ileostomy in 14 cases. After primary ileostomy 5 patients died following Mikulicz ileostomy and 2 after Bishop Koop ileostomy Among the 41 cases those who reached ileostomy closure, 35 were survived. Conclusion: Complications were more common after Mikulicz ileostomy and difficult to manage in our observation. Overall survival of meconium ileus was 66% in our study without any facilities of intensive neonatal care. Bang Med J (Khulna) 2017; 50 : 31-34

Cystic fibrosis is one of the most common inheritable traits in Caucasians. Meconium ileus and its potential complications are the most likely reasons that these patients will need surgical care. Surgical intervention is usually needed in the neonatal period but may also be required later in life. This article discusses the various ways cystic fibrosis can affect the gastrointestinal tract. Both the operative and nonoperative management of complicated and uncomplicated meconium ileus are discussed in the neonatal period as well as long-term issues, such as distal intestinal obstructive syndrome, fibrosing colonopathy, and rectal prolapse, all of which may be seen in older children and adults.