Type II Congenital Pyloric Atresia with Desquamative Enteropathy Diagnosed Postoperatively: A Case Report.

Congenital pyloric atresia (CPA) is a rare condition that presents as gastric outlet obstruction in the first few weeks of life. Isolated CPA typically carries a good prognosis but when associated with other conditions such as multiple intestinal atresia or epidermolysis bullosa (EB), the outcomes are generally poor. This report describes a four-day-old infant who presented with nonbilious emesis and weight loss in whom an upper gastrointestinal contrast study revealed gastric outlet obstruction determined to be consistent with pyloric atresia. The patient underwent operative repair via Heineke-Mikulicz pyloroplasty. Postoperatively, the patient continued to have severe diarrhea and was found to have desquamative enteropathy though had no skin findings consistent with EB. This report emphasizes consideration of CPA as a differential diagnosis for neonates presenting with nonbilious emesis and demonstrates the association between CPA and desquamative enteropathy without EB.

Prenatal and postnatal peculiarities and consequences of intestinal loop patency disorder with expansive giant cystic abdominal mass in a preterm newborn.

AIM: To analyse the findings in a newborn (36 gestational weeks, birth weight: 4,030 grams, birth length: 48 cm, Apgar score 7/8/8 points) with prenatal suspicion of intestinal obstruction at the duodenum/jejunum level. The patient required urgent surgery on the first day of life. RESULTS: Examination of the abdominal cavity confirmed the presence of a cystic mass with a volume of approximately 800 ml, which was located at the site of jejunal atresia. As part of the surgical solution, the cystic formation and the atretic segment of the intestine were resected with subsequent end-to-end jejuno-jejunal anastomosis and Bishop‒Koop ileostomy. The histological examination of 3 samples collected confirmed the presence of mucous membrane and smooth muscle. CONCLUSION: The cyst anatomically communicated with the aboral section of the jejunum, but the lumen of the jejunum was functionally obturated by solid whitish masses. The histological examination confirmed the diagnostic features of a cyst of intestinal origin. The ileum and colon were patent throughout, but of smaller diameter, so a Bishop-Koop relieving anastomosis was indicated. The condition of the child at the age of 9 months was stabilised and surgical closure of the stoma was carried out (Tab. 1, Fig. 8, Ref. 21). Text in PDF www.elis.sk Keywords: newborn, jejunal atresia, intestinal cyst.

[Delayed complication of surgical treatment of duodenal atresia in neonatal period]. / Pozdnee oslozhnenie khirurgicheskogo lecheniya atrezii dvenadtsatiperstnoi kishki v neonatal'nom periode.

We report a 48-year-old woman who underwent surgery in early neonatal period for duodenal atresia and developed subsequent diseases of the upper gastrointestinal tract. Symptoms of gastric outlet obstruction, gastrointestinal bleeding and malnutrition developed over the past 5 years. Inflammatory and cicatricial lesions of gastrojejunostomy formed for congenital duodenal obstruction following annular pancreas required reconstructive surgery.

Does Preterm Status Hinder the Timely Diagnosis of Intestinal Atresia?

Intestinal atresia is one of the most common causes of bowel obstruction in newborns. Unfortunately, this diagnosis is often missed or delayed in extremely preterm infants because of complications of prematurity including feeding intolerance and necrotizing enterocolitis. Here we report 2 cases of jejunoileal atresia in extremely preterm infants who were diagnosed beyond 30 days of age. Case 1 had jejunoileal atresia type IIIa, whereas case 2 had type IV jejunoileal atresia complicated by short bowel syndrome. Ideally, intestinal atresia should be diagnosed as early as possible in a patient's hospital course to attain full enteral feedings earlier and avoid prolonged hospitalization. Planned surgical intervention prior to the development of sepsis or bowel perforation is associated with better outcomes. Ultimately, this report serves as a reminder to physicians that intestinal atresia remains an important differential for infants, including preterm infants, with feeding intolerance in the first days to weeks of age.

Delayed presentation of duodenal atresia.

Background: The most common type of duodenal atresia (DA) (Type I), also known as duodenal web or membrane can present later in infancy or early childhood if the membrane or web is fenestrated. We describe six patients with delayed presentation of DA. Materials and Methods: Retrospective review of hospital records of six patients with delayed presentation of DA due to fenestrated web managed in Paediatric Surgery Department at a tertiary care institute over a period of 2 years (January 2019 to December 2020) was done. The data of these patients were analysed on the basis of age at presentation, clinical presentation, associated anomalies, radiological findings, intra-operative findings, management and postoperative course. Results: The median age at presentation was 6.5 months (range: 1 month to 10 years). There were four males and two females. The most common presentation was emesis seen in all six patients. Two patients had Down syndrome. Associated congenital anomalies were cardiac in one patient, anterior ectopic anus in one patient and malrotation of midgut in one patient. Upper gastrointestinal contrast suggested incomplete duodenal obstruction in all patients. At laparotomy, fenestrated duodenal membrane was observed in all patients - preampullary in three patients and postampullary in three patients. Lateral duodenotomy, web excision and transverse closure was done in all six patients. The postoperative period was uneventful in all patients and mean duration of hospital stay was 9 days. Conclusion: Fenestrated duodenal webs present a diagnostic challenge to the paediatric surgeons because of delayed and variable clinical presentation. A modification of the present classification of DA has been proposed in this study which would help in better reporting of epidemiology and aid in early diagnosis of this congenital anomaly.

Transanal recto-anal anastomosis for treatment of rectal atresia: a review of 4 cases.

INTRODUCTION: Rectal atresia is a rare subtype of anorectal malformations in which the patients are born with a normal anal canal but have complete atresia located few centimeters proximal to the dentate line. We present the transanal end-to-end rectoanal anastomosis as a surgical technique for the management of these patients, highlight the outcomes, and emphasize on some clinical tips. METHODS: Four patients were diagnosed as having rectal atresia on clinical and radiological basis. All of them underwent single loop low sigmoid colostomy in the first 24 h. After 6 months, transanal end-to-end rectoanal anastomosis was performed followed by closure of the stoma 3 months later. RESULTS: The 2 cases that are older than 3 years demonstrated normal continence and are clean between bowel movements, while the other two showed good anal tone and passing stools between 1-3 times daily, being dry in between. CONCLUSION: Transanal recto-anal anastomosis allows a safer route of anatomical reconstruction of the anorectum, therefore avoiding the potential complications associated with the other more invasive approaches.

[Surgical management of duodenal atresia due to annular pancreas and intestinal atresia IIIb]. / Manejo quirúrgico de atresia duodenal por páncreas anular y atresia intestinal IIIb.

Background: The presence of duodenal atresia related to type IIIb intestinal atresia is a rare association, with few cases reported in the literature, representing a surgical challenge considering that even isolated cases of type IIIb intestinal atresia are a challenge. The objective was to report the successful surgical management of a case of a complex intestinal malformation, characterized by duodenal occlusion secondary to annular pancreas and type IIIb intestinal atresia, with intestinal malrotation by definition and the presence of Meckel's diverticulum. Clinical case: We present the case report of a newborn sent to the second level of care with a diagnosis of duodenal obstruction not diagnosed prenatally, which resulted in duodenal atresia due to annular pancreas and type IIIb intestinal atresia according to the Grosfeld classification. The presence of duodenal atresia with type IIIb intestinal atresia is an extremely rare condition, even more so associated with annular pancreas. These cases are a challenge considering the short length of the small intestine and its consequent need for total parenteral nutrition for a prolonged period. Conclusions: The surgical management of this complex intestinal malformation resulted in a case with an adequate post-surgical evolution, based on the immediate start of enteral feeding with a short period of need for total parenteral nutrition that finally resulted in a short hospital stay.

Introducción: la presencia de atresia duodenal relacionada con atresia intestinal tipo IIIb es una asociación rara, con pocos casos reportados en la literatura, y representa un reto quirúrgico si se toma en cuenta que incluso los casos aislados de atresia intestinal tipo IIIb lo representan. El objetivo fue reportar el manejo quirúrgico exitoso del caso de una malformación intestinal compleja, caracterizada por una oclusión duodenal secundaria a páncreas anular y atresia intestinal tipo IIIb, con una malrotación intestinal por definición y la presencia de divertículo de Meckel. Caso clínico: reportamos el caso de un recién nacido enviado de segundo nivel de atención con un diagnóstico de obstrucción duodenal no diagnosticado prenatalmente, que resultó en atresia duodenal por páncreas anular y atresia intestinal tipo IIIb, según la clasificación de Grosfeld. La presencia de atresia duodenal con atresia intestinal tipo IIIb es una condición extremadamente rara y todavía lo es más asociada con páncreas anular. Estos casos son un desafío si se toma en cuenta la corta longitud de intestino delgado y su consiguiente necesidad de nutrición parenteral total por un periodo prolongado. Conclusiones: el manejo quirúrgico de esta malformación intestinal compleja resultó en un caso con una adecuada evolución postquirúrgica, basada en el inicio mediato de alimentación enteral con un periodo corto de necesidad de nutrición parenteral total que finalmente resultó en una corta estancia hospitalaria.

[Delayed meconium passage due to malrotation and colon atresia]. / Uitblijvende meconiumlozing door malrotatie en colonatresie.

BACKGROUND: If a newborn does not pass the first bowel movement within 48 hours, there may be an underlying cause. We describe a rare cause of delayed meconium passage. CASE DESCRIPTION: The neonate was born after a gestational age of 40 weeks and 2 days. The home birth was followed by a good start. Radiological imaging was performed due to the absence of the first stool and an increase in abdominal distention. The imaging showed an abnormal course of the colon with an sudden stop. Subsequently, surgery was conducted and an intestinal malrotation with a colonic atresia was found. During the surgery, a colonic anastomosis with a deviating loop ileostomy were constructed. The postoperative course was uneventful. CONCLUSION: Delayed meconium passage has a very extensive differential diagnosis, in which an atresia of the intestine is one of the possibilities. A quick and structured approach is essential to prevent a possible blow-out of the intestine.

Small Bowel Congenital Anomalies: A Review and Update.

The small intestine is a complex organ system that is vital to the life of the individual. There are several congenital anomalies that occur and present most commonly in infancy; however, some may not present until adulthood. Most congenital anomalies of the small intestine will present with obstructive symptoms, whereas some may present with vomiting, abdominal pain, and/or gastrointestinal bleeding. Various radiologic procedures can aid in the diagnosis of these lesions that vary depending on the particular anomaly. The congenital anomalies of the small intestine discussed include Meckel diverticulum, duodenal web, duodenal atresia, jejunoileal atresia, and intestinal duplications.

The role of preserved bowel and mesentery fixation in apple-peel intestinal atresia.

OBJECTIVE: This study explored the feasibility of mesoplasty with end-to-side anastomosis in the treatment of different apple-peel mesenteric defects with high jejunal atresia. METHODS: A retrospective analysis was performed on 42 premature infants admitted to the hospital between 2014 and 2021. Prenatal ultrasound scans revealed bowel dilatation. The patients experienced vomiting after birth and produced white or no meconium. Plain radiography showed double or triple bubble signs and the patients underwent emergency laparotomy. High jejunal atresia with different apple-peel atresia appearance was discovered intraoperatively, involving mobilization of the ileocecal region. Patients received end-to-side anastomosis between the enlarged blind pouch and atretic bowel, as well as mesoplasty. A jejunal feeding tube was placed trans-nasally. Patients were discharged after achieving full enteral feeding. We also reviewed the literature on the subject. RESULTS: Three patients died and 39 survived. The discharged patients were followed up for 12 months, and none showed post-operative complications such as intestinal obstruction, malnutrition, or chronic diarrhea. All surviving patients reached the expected height and weight for children of the same age. CONCLUSION: For cases of high jejunal atresia with apple-peel intestinal atresia, mesoplasty may be a good option to avoid postoperative volvulus.

Intestinal Atresias.

Intestinal atresia is a form of congenital bowel obstruction that requires operative repair in the early neonatal period. Duodenal atresia and jejunoileal (JI) atresia are appropriately seen as distinct entities. Both can be suspected with fetal imaging, which can assist with prenatal counseling of families. Duodenal atresia is more commonly associated with comorbidities, whereas JI atresia is more often an isolated finding. Surgical repair is essential and is typically well tolerated. Although it may take time to achieve intestinal function postoperatively, these infants are usually able to tolerate full feeds after resolution of the ileus. Excellent short- and long-term outcomes for isolated duodenal atresia and JI atresia are expected.

Congenital duodenal obstruction - Advances in diagnosis, surgical management, and associated controversies.

Congenital duodenal obstruction (CDO) occurs due to intrinsic and extrinsic mechanisms but is most often caused by intrinsic duodenal atresia and stenosis. This review will summarize the history, epidemiology, and etiologies associated with the most common causes of CDO. The clinical presentation, complex diagnostic considerations, and current surgical repair options for duodenal atresia and stenosis will also be discussed. Finally, both historical and recent controversies which continue to affect the surgical decision-making in the management of these patients will be highlighted.

Dual duodenojejunostomies in the repair of megaduodenum, duodenal stenosis and prior missed diagnosis of annular pancreas.

Duodenal stenosis and atresia are some of the most common forms of congenital bowel obstruction. The gold standard approach to treatment is duodenoduodenostomy, while rare, gastrojejunostomy and duodenojejunostomies may still be used. We report a case of a 7-year-old male presenting with annular pancreas with duodenal stenosis that was diagnosed at birth as primary duodenal atresia and repaired by gastrojejunostomy with a Braun enteroenterostomy. Through successful reoperation with dual duodenojejunostomy and subsequent management, we treated the sequelae of the initial repair, including megaduodenum. Regions of duodenal obstruction must have direct anastomotic repair to prevent subsequent issues related to dysmotility. Otherwise, further surgical intervention and long-term medical management, such as the novel strategy reported, may be necessary.

A de novo ACTB gene pathogenic variant in identical twins with phenotypic variation for hydrops and jejunal atresia.

The beta-actin gene (ACTB) encodes a ubiquitous cytoskeletal protein, essential for embryonic development in humans. De novo heterozygous missense variants in the ACTB are implicated in causing Baraitser-Winter cerebrofrontofacial syndrome (BWCFFS; MIM#243310). ACTB pathogenic variants are rarely associated with intestinal malformations. We report on a rare case of monozygotic twins presenting with proximal small bowel atresia and hydrops in one, and apple-peel bowel atresia and laryngeal dysgenesis in the other. The twin with hydrops could not be resuscitated. Intensive and surgical care was provided to the surviving twin. Rapid trio genome sequencing identified a de novo missense variant in ACTB (NM_00101.3:c.1043C>T; p.(Ser348Leu)) that guided the care plan. The identical variant subsequently was identified in the demised twin. To characterize the functional effect, the variant was recreated as a pseudoheterozygote in a haploid wild-type S. cerevisiae strain. There was an obvious growth defect of the yACT1S348L/WT pseudoheterozygote compared to a yACT1WT/WT strain when grown at 22°C but not when grown at 30°C, consistent with the yACT1 S348L variant having a functional defect that is dominant over the wild-type allele. The functional results provide supporting evidence that the Ser348Leu variant is likely to be a pathogenic variant, including being associated with intestinal malformations in BWCFFS, and can demonstrate variable expressivity within monozygotic twins.

Apple Peel Deformity and Malrotation of Gut: Autopsy Findings of a Rare Cause of Mortality in Utero.

One-third of all intestinal obstructions in the newborn are caused by atresias. The most common site is the duodenum followed by jejunoileal and colonic locations. Herein we report the autopsy findings of a rare case of jejunoileal atresia associated with malrotation of gut. Autopsy performed on a 36 weeks old male fetus still birth, born of a non-consanguineous marriage, demonstrated jejunoileal atresia with apple peel deformity and malrotation of gut. Although the diagnosis was established in the prenatal period, in utero fetal demise occurred before definitive surgical intervention could be done. This case highlights the importance of early diagnosis and intervention.

[Anorectal malformations: a 6-years review at the University Clinics of Lubumbashi]. / Malformations anorectales: revue de 6 ans aux Cliniques Universitaires de Lubumbashi.

Anorectal malformations (ARM) are developmental anomalies of the genitor anal elements, they represent a wide range of anomalies. An early diagnosis allows a better management as it reduces mortality associated with ARM, especially in developing countries. A prospective cross-sectional study has been carried, including patients from 0 to one year, admitted in our service for ARM. Twenty-four (24) patients have been considered. The median age was 2 days, the sex ratio 1/3 for female. Intestinal occlusions were the most frequent circumstances of diagnosis (50%), low ARMs were the most frequent, diagnosed in 11 patients (45.7%) of which 10 did not have any fistula. The most common associated malformation was intestinal atresia (3 patients). Anoplasty was done using abdominoperineal pull-through associated to anal dilatations in 13 patients (54.1%). Six patients died from unknown etiology and 6 were lost from the follow-up. Concerning the functional outcome, 12 of the 24 patients concerned by the study attended review and 3 of them presented signs of fecal incontinence, 9 of them were continents among whom 8 were diagnosed low ARM and one with high ARM. ARMs are encountered in our environment, nonetheless, the diagnosis is still made most of the time, during an intestinal occlusion. The mortality rate is still high and measures should be taken to allow long-term reviews, which will surely reduce the number of lost patients.