15. Gastrointestinal Congenital Disorders

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Questions and Answers

What is the primary embryological structure involved in the separation of the esophagus from the trachea?

  • The tracheoesophageal septum (correct)
  • The ventral pancreatic bud
  • The lateral folds of the abdominal wall
  • The omphalomesenteric duct

A newborn presents with projectile vomiting, a palpable 'olive' mass in the epigastrium, and visible hyperperistalsis. Which condition is most likely?

  • Biliary atresia
  • Pyloric stenosis (correct)
  • Annular pancreas
  • Meckel's diverticulum

Which of the following is NOT a typical finding in a newborn with biliary atresia?

  • Bilious vomiting (correct)
  • Darkening of urine
  • Persistent jaundice after two weeks of life
  • Acholic stools

An ultrasound of an infant with a suspected GI disorder reveals a thickened and lengthened pylorus. Which condition is most likely to be present?

<p>Pyloric Stenosis (D)</p> Signup and view all the answers

What is a key distinguishing feature of gastroschisis compared to omphalocele?

<p>The herniated abdominal contents are not covered by peritoneum or amnion. (B)</p> Signup and view all the answers

What is the primary diagnostic imaging modality used to identify Meckel's diverticulum?

<p>99mTc-pertechnetate scan (D)</p> Signup and view all the answers

Which congenital anomaly is associated with an abnormal rotation of the ventral pancreatic bud?

<p>Annular pancreas (D)</p> Signup and view all the answers

A newborn is diagnosed with esophageal atresia. What is a common co-occurring condition associated with this abnormality, besides a tracheoesophageal fistula?

<p>VACTERL Association (B)</p> Signup and view all the answers

A male infant presents with projectile vomiting, which physical exam finding is most likely to be associated with this condition?

<p>A palpable, firm, olive-shaped mass in the epigastrium (C)</p> Signup and view all the answers

Which of the following is the most common initial treatment for biliary atresia in a newborn without other complications?

<p>Kasai procedure (hepatoportoenterostomy) (C)</p> Signup and view all the answers

A newborn presents with persistent jaundice, dark urine, and acholic stools. Which set of lab results below is most suggestive of biliary atresia?

<p>Elevated direct bilirubin, elevated ALP and GGT, elevated AST &amp; ALT (A)</p> Signup and view all the answers

What is the underlying embryological cause of an annular pancreas?

<p>Abnormal rotation of the ventral pancreatic bud (D)</p> Signup and view all the answers

Which of the following factors is most associated with an increased risk of pyloric stenosis?

<p>Exposure to erythromycin or azithromycin (A)</p> Signup and view all the answers

A newborn presents with an abdominal wall defect characterized by intestinal contents protruding to the right of the umbilicus, with no hernia sac. Which condition is most likely?

<p>Gastroschisis (C)</p> Signup and view all the answers

Which finding is LEAST associated with Meckel's diverticulum?

<p>Increased AFP levels (A)</p> Signup and view all the answers

Persistence of the vitelline duct can lead to which of the following anomalies?

<p>Vitelline cyst (B)</p> Signup and view all the answers

A 1-year-old child is experiencing intermittent abdominal pain. Imaging reveals a true diverticulum in the ileum containing ectopic gastric tissue. Which of the following may be a likely mechanism of pain?

<p>Acid secretion causing peptic ulceration (C)</p> Signup and view all the answers

When does the vitelline duct normally obliterate, during gestation?

<p>Around the 6th week (B)</p> Signup and view all the answers

What is the most common clinical presentation of Meckel's diverticulum in adult patients?

<p>Painless lower gastrointestinal bleeding (D)</p> Signup and view all the answers

A 3-year-old male is suspected of having Meckel's diverticulum. Which of the following diagnostic tests is most appropriate to confirm this condition?

<p>99mTc-pertechnetate scan (Meckel scan) (B)</p> Signup and view all the answers

A patient's imaging reveals the entire colon is located on the left side of the abdomen, and the small bowel on the right. What specific type of intestinal malrotation is most likely present?

<p>Nonrotation (C)</p> Signup and view all the answers

An infant is diagnosed with intestinal malrotation. Which of the following anatomical findings would suggest incomplete rotation?

<p>The cecum is fixed in the right upper quadrant by peritoneal bands (Ladd bands). (D)</p> Signup and view all the answers

Which of the following is considered the gold standard imaging technique for diagnosing intestinal malrotation in hemodynamically stable patients?

<p>Upper gastrointestinal (GI) series (D)</p> Signup and view all the answers

Which of the following best describes the most common anatomical presentation of esophageal atresia?

<p>The upper esophagus terminates in a blind pouch, and the lower esophagus connects to the stomach with a tracheoesophageal fistula present, distal to the atresia. (D)</p> Signup and view all the answers

In a newborn with suspected isolated esophageal atresia, what would be an expected finding on a chest X-ray, besides the inability to progress an NG tube?

<p>Absence of a stomach bubble, with air contrast in the upper esophageal pouch. (D)</p> Signup and view all the answers

Which of the following is NOT a typical early clinical sign observed in a newborn with esophageal atresia?

<p>Bilious vomiting, indicating distal obstruction. (C)</p> Signup and view all the answers

What percentage of esophageal atresia cases are expected to occur in isolation, without an associated tracheoesophageal fistula?

<p>Approximately 8% (B)</p> Signup and view all the answers

A newborn is diagnosed with esophageal atresia. What is the most helpful approach in establishing the diagnosis immediately after birth?

<p>Attempting to pass a nasogastric tube into the infant's stomach. (D)</p> Signup and view all the answers

The VACTERL association includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Which of these anomalies directly relates to the condition of esophageal atresia?

<p>Tracheoesophageal fistula (C)</p> Signup and view all the answers

Which of the following best describes the embryological defect associated with esophageal atresia?

<p>Incomplete separation of the foregut into the trachea and esophagus. (B)</p> Signup and view all the answers

A pregnant woman displays polyhydramnios during routine prenatal scans. This is linked to which common finding with a neonate after birth, in the context of this content?

<p>Increased amniotic fluid from the fetus's inability to swallow due to esophageal atresia. (B)</p> Signup and view all the answers

What is the most common type of tracheoesophageal fistula (TEF) based on its connection to the esophagus?

<p>Connected to the distal esophageal segment (A)</p> Signup and view all the answers

A neonate with a tracheoesophageal fistula (TEF) presents with increased respiratory distress and cyanosis immediately after birth. Which of the following is the most likely mechanism causing the cyanosis?

<p>Aspiration of secretions into the lungs. (C)</p> Signup and view all the answers

Which of the following correctly describes the typical presentation of esophageal atresia?

<p>The presence of polyhydramnios prenatally, and postnatally the pooling of secretions and inability to feed. (A)</p> Signup and view all the answers

A newborn is suspected of having a tracheoesophageal fistula (TEF). A chest X-ray is performed. What finding on the X-ray would be most indicative of a Type C TEF?

<p>A large gastric bubble, esophageal pouch and a tracheal connection to the distal esophagus. (C)</p> Signup and view all the answers

What is the underlying anatomical cause behind pyloric stenosis?

<p>Hypertrophy and hyperplasia of the pyloric sphincter. (B)</p> Signup and view all the answers

Which of the following is a typical prenatal finding associated with esophageal atresia?

<p>Polyhydramnios (A)</p> Signup and view all the answers

Why is the placement of a feeding tube important in the diagnosis of esophageal atresia?

<p>To confirm if the tube can pass into the stomach, or if blocked by an atresia. (D)</p> Signup and view all the answers

What is the key difference between Type B and Type C tracheoesophageal fistulas (TEFs)?

<p>Type B has a connection to the proximal esophageal segment, while Type C has a connection to the distal. (D)</p> Signup and view all the answers

A newborn presents with abdominal distension, pain, and nonbilious vomiting. The mother had polyhydramnios during pregnancy. Which of the following conditions is most likely?

<p>Annular Pancreas (D)</p> Signup and view all the answers

Which of the following is a common diagnostic procedure for confirming annular pancreas?

<p>Upper GI series with barium (D)</p> Signup and view all the answers

A newborn is diagnosed with omphalocele. Which of the following is typically TRUE regarding this condition?

<p>The herniated abdominal contents are covered by a sac consisting of peritoneum and amnion. (D)</p> Signup and view all the answers

Which of the following is a common prenatal finding for omphalocele?

<p>Elevated maternal serum alpha-fetoprotein (C)</p> Signup and view all the answers

A newborn is diagnosed with gastroschisis. Which statement is most accurate when comparing gastroschisis to omphalocele?

<p>Gastroschisis is a paraumbilical defect, whereas omphalocele is midline. (A)</p> Signup and view all the answers

A newborn presents with a diagnosis of omphalocele, which of the following co-existing conditions is most likely?

<p>Trisomy 21 (Down Syndrome) (A)</p> Signup and view all the answers

What is the primary surgical intervention for a patient with an annular pancreas causing duodenal obstruction?

<p>Duodenoduodenostomy (D)</p> Signup and view all the answers

A baby is born with polyhydramnios and is found to have an obstruction in their small intestines, which of the following is associated with polyhydramnios and should be in the differential diagnosis?

<p>Annular pancreas (B)</p> Signup and view all the answers

Flashcards

Esophageal Atresia & Tracheoesophageal Fistula

A condition where the esophagus doesn't connect to the stomach, usually with a connection to the trachea. Most common type is Gross type C, with a fistula to the trachea.

Pyloric Stenosis

Causes the most common form of gastric outlet obstruction in infants. It results from an overgrowth of the pyloric muscle.

Biliary Atresia

A condition where the bile ducts in the liver are blocked, preventing bile from flowing. This can lead to jaundice.

Annular Pancreas

This occurs when part of the pancreas wraps around the duodenum, blocking food flow. It can be associated with Down syndrome.

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Ventral Wall Defect

A birth defect where the abdominal wall doesn't close completely.

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Omphalocele

A type of ventral wall defect where the intestines stick out through a hole in the belly button but are covered by a thin membrane.

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Meckel's Diverticulum

A pouch in the small intestine that can cause inflammation and bleeding.

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Gastroschisis

A type of ventral wall defect where the intestines stick out through a gap in the abdominal wall, but are not covered by any membrane.

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Gastric Outlet Obstruction

A narrowing or blockage that can occur at the area where the stomach connects to the small intestine, preventing the passage of food.

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Bile Duct Obstruction

A condition where the bile ducts in the liver are blocked or missing.

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Tracheoesophageal Fistula (TEF)

An abnormal connection between the trachea and esophagus, allowing air to enter the stomach.

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Esophageal Atresia

A condition where the esophagus doesn't connect to the stomach, usually with an abnormal connection to the trachea.

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Type C TEF

The most common type of TEF, where the fistula is connected to the distal end of the esophagus.

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Type B TEF

Type of TEF where the fistula connects to the proximal end of the esophagus.

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Type E TEF

Type of TEF where there is no connection between the esophagus and stomach.

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Intestinal Malrotation

Occurs when the intestines twist abnormally, potentially blocking food passage. Can lead to a lack of blood flow to the intestines.

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Polyhydramnios

An increase in amniotic fluid during pregnancy, often associated with birth defects such as omphalocele.

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Feeding Difficulties

Refers to feeding difficulties in infants, often associated with gastrointestinal conditions.

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What is Meckel's Diverticulum?

A common congenital malformation where a small pouch remains on the small intestine. It can be asymptomatic or cause bleeding.

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What is Intestinal Malrotation?

A condition where the intestines are not rotated properly within the abdomen during fetal development. It can lead to volvulus or obstruction.

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What is a Meckel Scan?

A 99mTc-pertechnetate scan, also known as a Meckel scan, is a nuclear medicine test used to detect Meckel's Diverticulum.

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What is the typical treatment for Meckel's Diverticulum?

Surgical removal of the Meckel's diverticulum is the standard treatment to prevent complications.

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What is the gold standard imaging for intestinal malrotation?

Upper GI series is the preferred imaging study for intestinal malrotation in hemodynamically stable patients.

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Omphalomesenteric Band

A fibrous band connecting the intestine to the umbilicus, formed by the persistence of the vitelline duct. It can trap loops of intestine and cause bowel obstruction.

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Vitelline Cyst

A cyst that forms at the site of the vitelline duct, which is usually obliterated during fetal development. It can be found in the abdomen or near the umbilicus.

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Vitelline Fistula

A persistent connection between the small intestine and the yolk sac, creating a pathway for intestinal contents to leak out. Usually, this connection closes during development.

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Tracheoesophageal Fistula

An abnormal connection between the esophagus and trachea, often associated with esophageal atresia. A fistula allows air or food to flow between the two.

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Tracheoesophageal Septum

The separation of the developing esophagus and trachea during embryonic development is disrupted, leading to esophageal atresia and/or tracheoesophageal fistula.

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VACTERL Association

A group of birth defects that often occur together, affecting various body systems. Esophageal atresia and tracheoesophageal fistula can be part of this syndrome.

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Isolated Esophageal Atresia (Gross type A)

A severe condition where the upper esophagus ends in a blind pouch, and the lower esophagus connects to the stomach. There is no connection between the two.

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Chest X-Ray with Air Contrast

A radiographic image of the chest taken after injecting air contrast into the upper esophagus, used to diagnose esophageal atresia by showing the blocked passage.

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Nasogastric (NG) Tube

A tube inserted through the nose into the stomach, often used to assess the patency of the esophagus. If an NG tube fails to pass, it suggests a possible blockage

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Study Notes

Esophageal Atresia & Tracheoesophageal Fistula

  • Develops due to incomplete separation of esophagus and trachea by the tracheoesophageal septum.
  • Often accompanies other mesodermal defects (VACTERL).
  • Most frequent form (Gross type C) involves fistula connection to trachea, leading to a noticeable gastric bubble.
  • Prenatal features include polyhydramnios, occurring in approximately 57% of pregnancies.
  • Postnatal features include excessive secretions, choking, drooling, and regurgitation. Aspiration pneumonia can occur.
  • The fistula can be connected to the proximal or distal esophageal segment, leading to different clinical manifestations.
  • 87% of cases involves a distal fistula (TYPE C).
  • 1% of cases involves a proximal segment (TYPE B).

Pyloric Stenosis

  • Common cause of infant gastric outlet obstruction.
  • Caused by hyperplasia of the pyloric muscularis propria.
  • More common in firstborn males (5:1 ratio).
  • Presents with projectile vomiting, palpable olive-shaped mass in epigastrium, and hyperperistalsis.
  • Possible association with exposure to macrolides.
  • Diagnosed via ultrasound showing a thickened and lengthened pylorus.
  • Treated with pyloromyotomy.

Biliary Atresia

  • Characterized by obliteration or damage to extrahepatic bile ducts, typically the common bile duct.
  • Leads to cholestasis (bile buildup).
  • Diagnosed by elevated cholestasis parameters in tests (ALP, GGT, direct bilirubin, AST, ALT).
  • Presents with persistent jaundice after two weeks of life, darkened urine, acholic stools, and hepatomegaly in infants.
  • Frequently requires liver transplant.
  • Fibro-obliterative destruction of bile ducts leading to cholestasis.
  • Most common reason for pediatric liver transplant.
  • Affects females more frequently than males (♀ > ♂).
  • Incidence is 1 in 10,000-15,000 live births.

Annular Pancreas

  • Caused by abnormal rotation of the ventral bud of the pancreas.
  • Associated with Down syndrome.
  • Clinical features include polyhydramnios, abdominal distension, vomiting (nonbilious), and feeding difficulties.
  • Diagnosed with an upper GI series (with barium).
  • Treated with duodenoduodenostomy.

Ventral Wall Defects

  • Gastroschisis:
    • Abdominal contents protrude outside the abdominal wall, not covered by peritoneum or amnion.
    • Not associated with chromosomal abnormalities.
    • Generally good prognosis.
    • Usually to the right of the umbilical cord.
    • Frequently diagnosed prenatally.
    • Protrusion of intestinal content usually on the right side of the umbilicus.
    • Not contained in a hernia sac.
    • Appears edematous, erythematous, and dull.
  • Omphalocele:
    • Abdominal contents protrude through the umbilicus, covered by peritoneum and amnion.
    • Associated with congenital anomalies (trisomies 13 and 18).
    • The hernia sac is covered by the amniotic membrane and the peritoneum (light gray shiny sac).
    • Often accompanied by other anomalies (cardiac, genitourinary, and neural tube defects).

Meckel's Diverticulum

  • An incomplete obliteration of the omphalomesenteric duct.
  • May contain ectopic gastric or pancreatic tissue (60%).
  • Diagnosed using a 99mTc-pertechnetate scan (Meckel scan) to detect heterotopic gastric mucosa uptake.
  • "Rule of 2's" applies: Twice as common in males, 2 inches long, 2 feet from ileocecal valve, 2% of the population.
  • Most common cause of gastrointestinal bleeding in childhood.
  • Possible presentations include hematochezia/melena, RLQ pain, intussusception, volvulus, or obstruction near the terminal ileum.
  • Treated with surgical resection.
  • Symptoms may include abdominal pain, nausea, vomiting, or hematochezia.
  • Ectopic gastric tissue within the diverticulum can lead to peptic ulcers.

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