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2.1
Atresia of Small Intestine
Apple Peel Syndrome

Presentation

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

The most common associated conditions are cystic fibrosis, malrotation, and gastroschisis, each of which is present in about 10% of cases. [merckmanuals.com]

Case presentation We present here a 29 week preterm boy admitted to the intensive care unit due to breathing difficulties and low birthweight. [link.springer.com]

Entire Body System

  • Trisomy 21

    It is associated with trisomy 21 and congenital heart disease. Jejunal and Ileal Atresia These conditions are often classified according to four types. [clinicaladvisor.com]

    Related conditions include cystic fibrosis, Trisomy 21 (Down syndrome), congenital heart disease, bowel rotational abnormality, annular pancreas, esophageal atresia, anorectal atresia and genitourinary conditions. [chop.edu]

    Chromosomal abnormalities (mainly trisomy 18 or 21) are found in about 20% of fetuses. Other major defects, mainly cardiac, are found in about 50% of the cases. [sonoworld.com]

    Similarly, whereas duodenal atresia is often associated with other congenital anomalies and can be seen in up to 25% of cases of trisomy 21 [ 9, 10 ], jejunal and ileal atresias usually occur in otherwise normal newborns. [ispub.com]

  • Feeding Difficulties

    Common symptoms in the newborn include feeding difficulties, failure to thrive, vomiting bile (a yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. [rarediseases.info.nih.gov]

Gastrointestinal

  • Intestinal Perforation

    The ischemic insult can be due to intussusception, perforation, volvulus, intestinal strangulation via a hernia, or thromboembolism. Maternal smoking and cocaine use have been associated with intestinal atresia. [merckmanuals.com]

    […] the umbilical ring, intestinal perforations, or vasoconstrictive drugs (eg, cocaine, ephedrine, nicotine). [thehealthscience.com]

    […] of thebowel Perforation in utero produces meconium peritonitis.Intraperitoneal meconium can cause dense adhesions,leading postnatally to adhesive intestinal obstruction, [email protected] 35. [slideshare.net]

Cardiovascular

  • Hypertension

    […] conjugated hyperbilirubinaemia around 12 mg/dL despite treatment with ursodeoxycholic acid, and severe hypercholesterolaemia (maximum 450 mg/dL), with appearance of difficult-to-control pruritus, together with progressive splenomegaly secondary to portal hypertension [elsevier.es]

    MODED or Feingold's syndrome is an autosomal dominant condition associated with brachydactyly, variable microcephaly and duodenal and esophageal atresias. 10 Alveolar capillary dysplasia is a congenital malformation of the lungs causing pulmonary hypertension [nature.com]

    Postnatally, early diagnosis and removal of the cyst may avoid the development of biliary cirrhosis, portal hypertension, calculi formation or adenocarcinoma. The operative mortality is about 10%. [sonoworld.com]

Musculoskeletal

  • Brachydactyly

    MODED or Feingold's syndrome is an autosomal dominant condition associated with brachydactyly, variable microcephaly and duodenal and esophageal atresias. 10 Alveolar capillary dysplasia is a congenital malformation of the lungs causing pulmonary hypertension [nature.com]

Psychiatrical

  • Suggestibility

    In 25–40 % cases, the anomaly is associated with trisomy 21 (Down syndrome, which suggests possible genetic origin) [ 7 ]. The absence of associated congenital anomalies in our patient suggests an error in later embryonic development. [link.springer.com]

    Ultrasound findings that may suggest intestinal atresia include dilated loops of bowel, hyperechoic bowel (it appears brighter than it should), and accumulation of fluid (ascites). [rarediseases.info.nih.gov]

    Investigations ABG - Hypochloremic metabolic alkalosis TLC - Marked leukocytosis with or withoutthrombocytopenia Stool Routine - Hematochezia in a patient withobstruction suggests bowel infarction. Serum amylase and lipase - determinationsshould be [slideshare.net]

    In the instances where a recurrence has been reported within a family, the pattern of inheritance suggests autosomal recessive inheritance ( OMIM 223400, OMIM 243600 ). [health.state.mn.us]

Treatment

Children's National offers both treatment options and assess with families to determine the best care plan for each individual patient. [childrensnational.org]

Treatment Preoperative management of jejunoileal atresia consists of placing an NGT, giving nothing by mouth, and providing IV fluids. Surgical repair is the definitive therapy. [merckmanuals.com]

Our renowned surgeons and faculty continue to push the frontiers of surgical science through innovative treatment and leading-edge research, changing lives and the future of surgical treatment, each and every day. [medicine.yale.edu]

Its treatment is a challenging task since restoration of anatomical continuity of the affected intestine must be balanced against preservation of the intestine's maximal length. [ncbi.nlm.nih.gov]

(Outcomes/Resolutions) The prognosis of Jejunal Atresia is determined by early diagnosis and timely and appropriate treatment. [dovemed.com]

Prognosis

The prognosis for infants with jejunoileal atresia is very good with > 90% survival. Prognosis is based on the length of remaining small bowel and the presence of the ileocecal valve. [merckmanuals.com]

Diagnosis - Atresia of small intestine Prognosis - Atresia of small intestine The long-term outlook (prognosis) for people with intestinal atresia is usually good, and in general, children do well post-operatively. [checkorphan.org]

What is the Prognosis of Jejunal Atresia? (Outcomes/Resolutions) The prognosis of Jejunal Atresia is determined by early diagnosis and timely and appropriate treatment. [dovemed.com]

Etiology

Etiology Multiple theories regarding the etiology of jejunoileal atresia have been studied in many animal models (eg, puppies, ewes, rabbits, and chick embryos). [22, 23, 24, 25, 26] Murine studies suggest that some forms of atresia may be hereditary [emedicine.medscape.com]

[…] in·tes·ti·nal a·tre·si·a an obliteration of the lumen of the small intestine, with the ileum involved in 50% of cases and the jejunum and duodenum next in frequency; most frequent cause of intestinal obstruction in the newborn; etiology may be related [medical-dictionary.thefreedictionary.com]

Etiology Duodenal atresia is a sporadic abnormality, although, in some cases, there is an autosomal recessive pattern of inheritance. [sonoworld.com]

CONCLUSION: Clinical observations of sporadic cases of MIA confined to the small bowel lend support to the hypothesis of a vascular incident etiology. [ncbi.nlm.nih.gov]

Definition / general Atresia: imperforate mucosal diaphragm or string-like segment of bowel Stenosis: narrowing of lumen; less common Complications: perforation, meconium peritonitis, brown bowel syndrome Etiology Developmental failure, intrauterine vascular [pathologyoutlines.com]

Epidemiology

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Hdl Handle: http://hdl.handle.net/10147/324196 Title: Epidemiology of small intestinal atresia in Europe: a register-based study. [hse.aws.openrepository.com]

Batra A, Keys SC, Johnson MJ, et al: Epidemiology, management and outcome of ultrashort bowel syndrome in infancy. Arch Dis Child Fetal Neonatal Ed 102(6):F551–F556, 2017. doi: 10.1136/archdischild-2016-311765 4. [merckmanuals.com]

Best KE, Tennant PWG, Addor MC, et al (2012) Epidemiology of small intestinal atresia in Europe: a register-based study. Arch Dis Child Fetal Neonatal Ed 2012; 97:F353-F358 . [health.state.mn.us]

Pathophysiology

Therefore, the objective of the present study was to assess contractile and histological status of preatretic part of jejunal atresia which may help in understanding of underlying pathophysiology of postoperative motility problems and surgical management [jiaps.com]

Pathophysiology Accumulation of ingested food, gas, and intestinalsecretions proximal to the point of obstruction,leading to distention of the bowel. As the bowel dilates, intestinal absorption decreasesand secretion of fluid and electrolytes increases [slideshare.net]

Pathophysiology The pathophysiology of dudoenal stenosis and atresia differs from that of obstructions located more distally in the jejunoileal area; the importance of this difference cannot be overstated. [emedicine.medscape.com]

Another report of different intestinal atresias in identical twins proposes them to be either the consequence of linkage of two genes or a pleiotropic expression of a single gene. [35] Pathophysiology As stated above, the patophysiology of dudoenal stenosis [thehealthscience.com]

Prevention

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Some birth defects can be prevented. Taking folic acid can help prevent some birth defects. Talk to your doctor about any medicines you take. Some medicines can cause serious birth defects. [icdlist.com]

Prevention IA can’t be prevented. [winchesterhospital.org]

Food is blocked from passing through the intestine, which prevents normal feeding and intestinal function. Intestinal atresia and stenosis usually involve the small intestine, but can affect any part of the gastrointestinal tract. [chp.edu]

Prevention There are no current guidelines to prevent intestinal atresia. There may be a link between atresia and smoking and cocaine during pregnancy. Congenital duodenal obstruction. EBSCO DynaMed Plus website. [wmhs.com]

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