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Cureus Apr 2024Jejunoileal atresia, a common cause of neonatal intestinal obstruction, typically manifests shortly after birth. This case report highlights a rare instance of a late...
Jejunoileal atresia, a common cause of neonatal intestinal obstruction, typically manifests shortly after birth. This case report highlights a rare instance of a late preterm female neonate presenting with type 4 jejunoileal atresia along with proximal rectal atresia, an exceedingly uncommon combination. Initial symptoms included bilious emesis and failure to pass meconium, leading to surgical correction of jejunoileal atresia. However, postoperative complications, including vomiting and jaundice, prompted further investigation, revealing rectal atresia during a fluoroscopic study on day 29. Subsequent surgery was required to address the rectal atresia, resulting in additional challenges such as short bowel syndrome and infection. The complexity of diagnosis and management underscores the importance of thorough evaluation of the lower gastrointestinal tract in neonates with jejunoileal atresia to prevent misdiagnosis and reduce the need for multiple surgeries. Rectal atresia, which is a very rare anorectal abnormality, in combination with jejunoileal atresia is considered an incredibly unusual, exceptionally unique case; as to our knowledge, no similar presentation had previously occurred. Prompt identification and simultaneous treatment of both conditions can help mitigate complications, minimize the risk of necrosis and perforation, and improve overall outcomes. Comprehensive management strategies that encompass thorough diagnostic evaluation and coordinated surgical interventions are crucial for optimizing the care of neonates with complex intestinal malformations, ensuring timely resolution of symptoms, and reducing long-term morbidity.
PubMed: 38741810
DOI: 10.7759/cureus.58141 -
Therapeutic Advances in Gastroenterology Jan 2017Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder... (Review)
Review
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome (MIMODS)] affecting the central nervous system (CNS), peripheral nervous system, eyes, ears, endocrine organs, heart, kidneys, bone marrow, lungs, arteries, and also the intestinal tract. Frequent gastrointestinal (GI) manifestations of MIDs include poor appetite, gastroesophageal sphincter dysfunction, constipation, dysphagia, vomiting, gastroparesis, GI pseudo-obstruction, diarrhea, or pancreatitis and hepatopathy. Rare GI manifestations of MIDs include dry mouth, paradontosis, tracheoesophageal fistula, stenosis of the duodeno-jejunal junction, atresia or imperforate anus, liver cysts, pancreas lipomatosis, pancreatic cysts, congenital stenosis or obstruction of the GI tract, recurrent bowel perforations with intra-abdominal abscesses, postprandial abdominal pain, diverticulosis, or pneumatosis coli. Diagnosing GI involvement in MIDs is not at variance from diagnosing GI disorders due to other causes. Treatment of mitochondrial GI disease includes noninvasive or invasive measures. Therapy is usually symptomatic. Only for myo-neuro-gastro-intestinal encephalopathy is a causal therapy with autologous stem-cell transplantation available. It is concluded that GI manifestations of MIDs are more widespread than so far anticipated and that they must be recognized as early as possible to initiate appropriate diagnostic work-up and avoid any mitochondrion-toxic treatment.
PubMed: 28286566
DOI: 10.1177/1756283X16666806 -
Annals of Translational Medicine May 2021Long-gap esophageal defects, whether congenital or acquired, are very difficult to manage. Any significant surgical peri-esophageal dissection that is performed to allow... (Review)
Review
Long-gap esophageal defects, whether congenital or acquired, are very difficult to manage. Any significant surgical peri-esophageal dissection that is performed to allow for potential stretching of two ends of a defect interrupts the esophageal blood supply and leads to complications such as leak and stricture, even in the youngest, healthiest patients. The term "congenital" applied to these defects refers mainly to long-gap esophageal atresia (LGA). Causes of acquired long-segment esophageal disruption include recurrent leaks and fistulae after primary repair, refractory GERD, caustic ingestions, cancer, and strictures. 5,000-10,000 patients per year in the US require esophageal replacement. Gastric, colonic, and jejunal pull-up surgeries are fraught with high rates of both short and long term complications thus creating a space for a better option. Since the 1970's many groups around the world have been unsuccessfully attempting esophageal replacement with tissue-engineered grafts in various animal models. But, recent advances in these models are now combining novel technologic advances in materials bioscience, stem-cell therapies, and transplantation and are showing increasing promise to human translational application. Transplantation has been heretofore unsuccessful, but given modern improvements in transplant microsurgery and immunosuppressive medications, pioneering trials in animal models are being undertaken now. These rapidly evolving medical innovations will be reviewed here.
PubMed: 34164544
DOI: 10.21037/atm-20-3906 -
The Journal of Obstetrics and... Dec 2021To describe a new sonographic feature of the C-sign for prenatal diagnosis of jejunal atresia and evaluate its role in prenatal jejunal atresia, particularly preceding...
OBJECTIVES
To describe a new sonographic feature of the C-sign for prenatal diagnosis of jejunal atresia and evaluate its role in prenatal jejunal atresia, particularly preceding bowel dilatation and polyhydramnios.
METHODS
This was a retrospective study from a tertiary maternal hospital. Patients with prenatal sonographic examination and confirmed small bowel atresia postdelivery were included. All sonographic images were reviewed by two senior sonographers. Comparison of sonographic images between prenatal jejunal and ileal atresia using the C-sign resembles the shape of the entire duodenum and other traditional sonographic features. The control group without bowel atresia was assessed for the presence of the C-sign.
RESULTS
The C-sign and combined bowel dilatation with polyhydramnios were more frequent in jejunal atresia than ileal atresia, but the C-sign can be used to detect jejunal atresia earlier. The C-sign can be more likely to diagnose jejunal atresia in persisting bowel dilatation and polyhydramnios. The C-sign was not reported in any of the control fetuses.
CONCLUSION
The C-sign is a new sonographic feature that can be used to improve the prenatal accuracy and early detection of jejunal atresia. However, further prospective validation is needed.
Topics: Female; Humans; Intestinal Atresia; Jejunum; Pregnancy; Retrospective Studies; Ultrasonography; Ultrasonography, Prenatal
PubMed: 34545663
DOI: 10.1111/jog.15029 -
World Journal of Gastrointestinal... Sep 2023Esophageal replacement (ER) with gastric pull-up (GPU) or jejunal interposition (JI) used to be the standard treatment for long-gap esophageal atresia (LGEA). Changes of...
BACKGROUND
Esophageal replacement (ER) with gastric pull-up (GPU) or jejunal interposition (JI) used to be the standard treatment for long-gap esophageal atresia (LGEA). Changes of the ER grafts on a macro- and microscopic level however, are unknown.
AIM
To evaluate long-term clinical symptoms and anatomical and mucosal changes in adolescents and adults after ER for LGEA.
METHODS
A cohort study was conducted including all LGEA patients ≥ 16 years who had undergone GPU or JI between 1985-2003 at two tertiary referral centers in the Netherlands. Patients underwent clinical assessment, contrast study and endoscopy with biopsy. Data was collected prospectively. Group differences between JI and GPU patients, and associations between different outcome measures were assessed using the Fisher's exact test for bivariate variables and the Mann-Whitney -test for continuous variables. Differences with a -value < 0.05 were considered statistically significant.
RESULTS
Nine GPU patients and eleven JI patients were included. Median age at follow-up was 21.5 years and 24.4 years, respectively. Reflux was reported in six GPU patients (67%) four JI patients (36%) ( = 0.37). Dysphagia symptoms were reported in 64% of JI patients, compared to 22% of GPU patients ( = 0.09). Contrast studies showed dilatation of the jejunal graft in six patients (55%) and graft lengthening in four of these six patients. Endoscopy revealed columnar-lined esophagus in three GPU patients (33%) and intestinal metaplasia was histologically confirmed in two patients (22%). No association was found between reflux symptoms and macroscopic anomalies or intestinal metaplasia. Three GPU patients (33%) experienced severe feeding problems none in the JI group. The median body mass index of JI patients was 20.9 kg/m 19.5 kg/m in GPU patients ( = 0.08).
CONCLUSION
The majority of GPU patients had reflux and intestinal metaplasia in 22%. The majority of JI patients had dysphagia and a dilated graft. Follow-up after ER for LGEA is essential.
PubMed: 37744319
DOI: 10.4253/wjge.v15.i9.553 -
Deutsches Arzteblatt International May 2015More than half of all congenital deformities can be detected in utero. The initial surgical correction is of paramount importance for the achievement of good long-term... (Review)
Review
BACKGROUND
More than half of all congenital deformities can be detected in utero. The initial surgical correction is of paramount importance for the achievement of good long-term results with low surgical morbidity and mortality.
METHODS
Selective literature review and expert opinion.
RESULTS
Congenital deformities are rare, and no controlled trials have been performed to determine their optimal treatment. In this article, we present the prenatal assessment, treatment, and long-term results of selected types of congenital deformity. Congenital diaphragmatic hernia (CDH) affects one in 3500 live-born infants, while esophageal atresia affects one in 3000 and small-bowel atresia one in 5000 to 10,000. If a congenital deformity is detected and its prognosis can be reliably inferred from a prenatal assessment, the child should be delivered at a specialized center (level 1 perinatal center). The associated survival rates are 60-80% after treatment for CDH and well over 90% after treatment for esophageal or small-bowel atresia. Despite improvements in surgical correction over the years, complications and comorbidities still affect 20-40% of the treated children. These are not limited to surgical complications in the narrow sense, such as recurrence, postoperative adhesions and obstruction, stenoses, strictures, and recurrent fistulae, but also include pulmonary problems (chronic lung disease, obstructive and restrictive pulmonary dysfunction), gastrointestinal problems (dysphagia, gastro-esophageal reflux, impaired intestinal motility), and failure to thrive. Moreover, the affected children can develop emotional and behavioral disturbances. Minimally invasive surgery in experienced hands yields results as good as those of conventional surgery, as long as proper selection criteria are observed.
CONCLUSION
Congenital deformities should be treated in recognized centers with highly experienced interdisciplinary teams. As no randomized trials of surgery for congenital deformities are available, longitudinal studies and registries will be very important in the future.
Topics: Esophageal Atresia; Evidence-Based Medicine; Female; Hernias, Diaphragmatic, Congenital; Herniorrhaphy; Humans; Infant, Newborn; Intestinal Atresia; Intestine, Small; Male; Prenatal Diagnosis; Plastic Surgery Procedures; Treatment Outcome
PubMed: 26051693
DOI: 10.3238/arztebl.2015.0357 -
Journal of Indian Association of... 2023Colonic atresia (CA) is an uncommon type of intestinal atresia commonly associated with other anomalies, while biliary atresia (BA) is also rare but usually an isolated...
Colonic atresia (CA) is an uncommon type of intestinal atresia commonly associated with other anomalies, while biliary atresia (BA) is also rare but usually an isolated anomaly. The pathogenesis for either of the anomalies is unclear. The co-occurrence of both pathologies has not been mentioned in the literature. We here discuss the management of CA with BA and the review of pertinent literature.
PubMed: 37635893
DOI: 10.4103/jiaps.jiaps_184_22 -
European Journal of Human Genetics :... Jan 2020Stromme syndrome.Jejunal atresia with microcephaly and ocular anomalies.Apple peel syndrome with microcephaly and ocular anomalies.Ciliopathy phenotype.Primary...
Stromme syndrome.Jejunal atresia with microcephaly and ocular anomalies.Apple peel syndrome with microcephaly and ocular anomalies.Ciliopathy phenotype.Primary microcephaly and intellectual disability.OMIM# of the disease 243605.Name of the analysed genes or DNA/chromosome segments CENPF.OMIM# of the gene(s) 600236.Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in CENPF genes in diagnostic, prenatal settings, and for risk assessment in relatives.
Topics: Chromosomal Proteins, Non-Histone; Eye Abnormalities; Genetic Testing; Humans; Intestinal Atresia; Microcephaly; Microfilament Proteins; Mutation; Phenotype; Sensitivity and Specificity
PubMed: 31488893
DOI: 10.1038/s41431-019-0498-y -
Indian Pediatrics May 2015
Topics: Humans; Ileum; Infant, Newborn; Infant, Newborn, Diseases; Intestinal Atresia; Male; Meconium; Orchitis; Scrotum
PubMed: 26061946
DOI: 10.1007/s13312-015-0655-5 -
Journal of Indian Association of... 2023Gastrointestinal (GI) duplications are rare congenital malformations with diverse presentations. They usually present in the pediatric age, especially in the first 2...
CONTEXT
Gastrointestinal (GI) duplications are rare congenital malformations with diverse presentations. They usually present in the pediatric age, especially in the first 2 years of life.
AIMS
To present our experience with GI duplication (cysts) at a pediatric surgery tertiary care teaching institute.
SETTINGS AND DESIGN
It is a retrospective observational study undertaken in the department of pediatric surgery at our center between 2012 and 2022 for GI duplications.
MATERIALS AND METHODS
All children were analyzed for their age, sex, presentation, radiological evaluation, operative management, and outcomes.
RESULTS
Thirty-two patients were diagnosed with GI duplication. Slight male predominance was present in the series (M: F ≈ 4:3). Fifteen (46.88%) patients presented in the neonatal age group; 26 (81.25%) patients were under 2 years. In the majority of cases ( = 23, 71.88%), the presentation was acute onset. Double duplication cysts on opposite sides of the diaphragm were present in one case. The most common location was ileum ( = 17), followed by gallbladder ( = 6), appendix ( = 3), gastric ( = 1), jejunum ( = 1), esophagus ( = 1), ileocecal junction ( = 1), duodenum ( = 1), sigmoid ( = 1), and anal canal ( = 1). Multiple associations (malformations/surgical pathologies) were present. Intussusception ( = 6) was the most common, followed by intestinal atresia ( = 5), anorectal malformation ( = 3), abdominal wall defect ( = 3), hemorrhagic cyst ( = 1), Meckel's diverticulum ( = 1), and sacrococcygeal teratoma ( = 1). Four cases were associated with intestinal volvulus, three cases with intestinal adhesions, and two with intestinal perforation. Favorable outcomes were present in 75% of cases.
CONCLUSION
GI duplications have varied presentations depending on site, size, type, local mass effect, mucosal pattern, and associated complications. The importance of clinical suspicion and radiology cannot be underrated. Early diagnosis is required to prevent postoperative complications. Management is individualized as per the type of duplication anomaly and its relation with the involved GI tract.
PubMed: 37197242
DOI: 10.4103/jiaps.jiaps_108_22