Pediatric GI Overview
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Questions and Answers

What is the primary defect in Criglar-Najjar syndrome type I?

  • Abnormality in hepatic enzymes responsible for bilirubin metabolism
  • Mutation in bilirubin glucuronosyltransferase
  • Deficiency in uridine 5'diphosphoglucuronosyltransferase (correct)
  • Deficiency in hepatocyte uptake of bilirubin
  • What is a characteristic feature of biliary atresia?

  • Extrahepatic biliary obstruction (correct)
  • Accumulation of bilirubin in the blood
  • Severe unconjugated hyperbilirubinemia
  • Complete absence of liver function
  • Which symptom is associated with untreated Criglar-Najjar syndrome type I?

  • Death within the first few months of life
  • Severe conjugated hyperbilirubinemia
  • Characteristic black color of the liver (correct)
  • Cirrhosis or liver failure
  • What condition results from a complete deficiency in uridine 5'diphosphoglucuronosyltransferase?

    <p>Criglar-Najjar syndrome type I</p> Signup and view all the answers

    What can result from untreated biliary atresia in infants?

    <p>Death within the first few months of life</p> Signup and view all the answers

    What is the primary cause of duodenal atresia?

    <p>Failure of recanalization in utero</p> Signup and view all the answers

    Which clinical feature is associated with duodenal atresia in a newborn?

    <p>Bilious vomiting</p> Signup and view all the answers

    What imaging sign is characteristic of duodenal atresia?

    <p>Double bubble sign</p> Signup and view all the answers

    In cases of pyloric stenosis, which syndrome might also be suspected based on presentation?

    <p>Turner syndrome</p> Signup and view all the answers

    What condition can develop as a consequence of malrotation?

    <p>Volvulus</p> Signup and view all the answers

    Which imaging study is typically the first step when a patient presents with bilious emesis?

    <p>Abdominal X-ray</p> Signup and view all the answers

    Which of the following is NOT a clinical presentation of duodenal atresia?

    <p>Lack of bowel sounds</p> Signup and view all the answers

    What is the main treatment strategy for duodenal atresia?

    <p>Surgery and IV fluids</p> Signup and view all the answers

    What characterizes bilious emesis?

    <p>It indicates a problem distal to the Ampulla of Vater.</p> Signup and view all the answers

    Which of the following is NOT a common cause of non-bilious emesis?

    <p>Intestinal malrotation/volvulus</p> Signup and view all the answers

    What is a potential cause of persistent non-bilious vomiting?

    <p>Gastroesophageal reflux disease (GERD)</p> Signup and view all the answers

    In children, which condition is least likely related to new onset biliary emesis?

    <p>Migraine</p> Signup and view all the answers

    What might indicate the onset of viral gastroenteritis in a child?

    <p>Vomiting occurring in clusters and quick resolution.</p> Signup and view all the answers

    What condition can cause increased intracranial pressure leading to vomiting?

    <p>Intracranial masses</p> Signup and view all the answers

    Which of the following is a common cause of bilious emesis in children?

    <p>Duodenal atresia</p> Signup and view all the answers

    Which statement about gastroparesis is accurate?

    <p>It can occur secondary to surgery with CN X damage.</p> Signup and view all the answers

    What is intussusception?

    <p>A condition where the bowel telescopes into another part.</p> Signup and view all the answers

    Which type of intussusception is more common in children?

    <p>Ileocecal intussusception.</p> Signup and view all the answers

    Which symptom is characteristic of intussusception in a child?

    <p>Abrupt onset of colicky abdominal pain.</p> Signup and view all the answers

    What kind of mass is typically felt on a physical exam of a child with intussusception?

    <p>A sausage-shaped mass.</p> Signup and view all the answers

    What diagnostic tool is typically used to identify intussusception?

    <p>Ultrasound showing a target sign.</p> Signup and view all the answers

    What is the relationship between intussusception and Rotavirus vaccination?

    <p>Vaccination increases the risk of intussusception.</p> Signup and view all the answers

    What type of diarrhea is associated with intussusception in children?

    <p>Currant jelly diarrhea.</p> Signup and view all the answers

    At what age is intussusception most commonly observed in children?

    <p>6 months to 36 months.</p> Signup and view all the answers

    What is the main reason for assessing all newborns' total serum bilirubin (TSB) and transcutaneous bilirubin (TcB) before discharge?

    <p>Bilirubin levels peak between the 3rd and 5th day of life.</p> Signup and view all the answers

    Which treatment option converts bilirubin into a water-soluble compound?

    <p>Phototherapy</p> Signup and view all the answers

    What are the potential complications of exchange transfusion?

    <p>Infection and portal venous thrombosis</p> Signup and view all the answers

    Which of the following is a risk factor for hyperbilirubinemia in newborns?

    <p>Gestational age less than 37 weeks</p> Signup and view all the answers

    When should exchange transfusion be initiated in a jaundiced infant?

    <p>Upon demonstration of acute bilirubin encephalopathy</p> Signup and view all the answers

    In the context of assessing newborns, which factor is NOT a recognized risk for hyperbilirubinemia?

    <p>Jaundice appearing after 24 hours</p> Signup and view all the answers

    What is the most likely condition if an infant presents with absence of UDP-glucuronyl transferase and high levels of unconjugated bilirubin?

    <p>Crigler-Najjar syndrome</p> Signup and view all the answers

    What is the best practice regarding the cessation of phototherapy?

    <p>Not until TSB is at 13-14 mg/dL</p> Signup and view all the answers

    What is the most likely diagnosis for a patient with a direct bilirubin level of 5.0 mg/dL and a total bilirubin level of 5.5 mg/dL?

    <p>Biliary atresia</p> Signup and view all the answers

    Which characteristic is associated with the diagnosis of biliary atresia?

    <p>May lead to cirrhosis if untreated by six months</p> Signup and view all the answers

    What is the mechanism of bilirubin handling in patients with biliary atresia?

    <p>Failure to excrete conjugated bilirubin into the intestine</p> Signup and view all the answers

    Which statement is false regarding biliary atresia?

    <p>It always causes unconjugated hyperbilirubinemia</p> Signup and view all the answers

    Which of the following options is NOT a treatment commonly associated with biliary atresia?

    <p>Phototherapy</p> Signup and view all the answers

    What condition is characterized by a deficiency in uridine 5’-diphosphoglucuronosyltransferase?

    <p>Criglar-Najjar syndrome type I</p> Signup and view all the answers

    What form of hyperbilirubinemia is expected in a patient with biliary atresia?

    <p>Severe conjugated</p> Signup and view all the answers

    Which of the following is true about the inheritance pattern of biliary atresia?

    <p>The cause is not entirely known and is not inherited</p> Signup and view all the answers

    Study Notes

    Pediatric GI Overview

    • Mariam Fahim, DO is an Associate Professor at Western University of Health Sciences and a Pediatrician at Inscriptions Children's Clinic (ICC).
    • No conflicts of interest were disclosed regarding industry relationships or products during the presentation.
    • Learning objectives include understanding the causes of vomiting/emesis in infants and children, the differences between Omphalocele and Gastroschisis, the clinical presentation of Pyloric stenosis, Duodenal Atresia, Volvulus, Malrotation, Intussusception, Gastroesophageal Reflux, Hyperbilirubinemia, Necrotizing Enterocolitis in neonates, and Imperforate Anus and Hirschsprung's Disease.

    Vomiting in Infants

    • Most pathological vomiting occurs early in life (hours to days).
    • Causes of pathological vomiting are mainly anatomical and often require surgery.
    • Always consider head trauma as a central cause of vomiting, especially in cases of suspected child abuse.
    • Normal infant vomiting is characterized by small amounts, non-projectile, non-bilious, and formula-colored.
    • Spitting up in infants is typically normal.

    Bilious vs. Non-Bilious Emesis

    • Bilious emesis is green due to the issue being distal to the Ampulla of Vater.
    • Bilious emesis is never normal.
    • Common causes of bilious emesis include duodenal atresia, jejunal atresia, Hirschsprung disease, malrotation/volvulus, annular pancreas, and imperforate anus.
    • Non-bilious emesis is not green because the blockage is proximal to the Ampulla of Vater.
    • Persistent non-bilious vomiting often relates to the stomach or esophagus.
    • Common causes include pyloric stenosis, tracheoesophageal fistula, increased intracranial pressure (ICP), brain tumors, intracranial masses, and Chiari malformations.

    Vomiting in Children

    • New onset of biliary emesis is rare in children with atresia, Hirschsprung's disease, and malrotation/volvulus.
    • Vomiting in clusters, sudden onset, and quick resolution is often a sign of viral gastroenteritis (versus prolonged and severe illness in bacterial gastroenteritis).
    • Vomiting many hours after food intake suggests gastroparesis, often secondary to surgery with vagus nerve damage, opioid and anticholinergic usage, or a neuromuscular disorder such as cerebral palsy or muscular dystrophy.
    • Vomiting can be a symptom of migraines, appendicitis, or pregnancy (adolescent females).
    • Diabetic ketoacidosis (DKA) is also a common cause of vomiting in children.

    Omphalocele vs. Gastroschisis

    • Omphalocele: Abdominal viscera herniate through the abdominal wall at the umbilicus. Contents are covered by a hernia sac.
    • Often associated with Trisomies (Trisomy 21, Trisomy 13), Beckwith-Wiedemann syndrome and other anomalies.
    • Gastroschisis: Abdominal viscera herniate through the abdominal wall paraumbilically (usually to the right). Contents are NOT covered by a hernia sac.
    • Rarely associated with additional anomalies and increasing in frequency, notably associated with young maternal age and use of certain medications.

    Pyloric Stenosis

    • Pyloric sphincter abnormality with hypertrophy.
    • Exact cause is unknown, but neonatal hyperacidity may be involved.
    • Clinical features include projectile, non-bilious vomiting (2-6 weeks after birth), and an "olive"-shaped mass palpated on the abdomen, potentially with visible peristalsis.
    • Associated with Turner and Edwards syndromes.
    • Risk factors include formula feeding, male predominance, erythromycin use, and nulliparity (first-born son), and also occurs 2-8 weeks post-iron poisoning.
    • Diagnosis is made through abdominal ultrasound.
    • Treatment is via pyloromyotomy (surgery).

    Duodenal Atresia

    • Failure of duodenum to recanalize in utero.
    • Clinical features include intrauterine polyhydramnios, and postpartum bilious vomiting (if distal to the major duodenal papilla), and an X-ray showing a double bubble sign and gasless distal bowel.
    • It is associated with Down Syndrome (approximately 30%).
    • Treatment involves surgery with fluid removal from the stomach via nasogastric tube and IV fluid administration.

    Malrotation and Volvulus

    • Malrotation: Incorrect alignment of intestines due to failure to rotate during development, often leading to the ileocecal valve being in the wrong quadrant (RUQ rather than RLQ). Timing of presentation depends on severity of any blockage.
    • Volvulus: Twisting of the intestine around its blood supply, often a consequence of malrotation, which causes ischemia. Clinical features usually include bilious emesis and abdominal distention.
    • Abdominal X-rays are the first-step when bilious emesis is suspected but may be normal, though upper gastrointestinal (GI) series can offer insight into abrupt cutoff points. Contrast enema may display abnormal cecum positioning. Over half of malrotation cases appear in the first month of life, with 30% appearing in the first week.

    Intussusception

    • Bowel telescopes into another part of the bowel.
    • Most common cause of bowel obstruction in children 6 months to 36 months of age.
    • Clinical features include abrupt onset of abdominal pain, relieved by the knee-chest position, and the presence of currant jelly-like stool.
    • Diagnosis involves an ultrasound with a target sign and is also possible via air-contrast barium enema to cure the condition.

    Gastroesophageal Reflux

    • Stomach acid backs up into the esophagus during or after eating.
    • Symptoms frequently include burning/squeezing (heartburn), post-meal spitting up, and acidic taste in the mouth.
    • Chronic dry coughing, especially at night, is common, often associated with asthma or obesity.
    • The gold standard for diagnosis is an ambulatory 24-hour pH monitor.
    • Treatment often includes antacids, histamine 2 (H2) receptor antagonists, or proton pump inhibitors (PPIs). These may be indicated if the infant or child has trouble gaining weight from GERD.

    Necrotizing Enterocolitis (NEC)

    • Bacterial invasion of the intestinal walls, leading to inflammation and potential destruction.
    • It is a common life-threatening emergency in newborns, particularly in premature infants, and is often associated with formula feeding, low birth weight, and packed RBC transfusions.
    • Clinical features include bloody diarrhea, abdominal distention.
    • Feared complication is pneumatosis intestinalis (air between intestinal walls).

    Imperforate Anus vs. Hirschsprung's Disease

    • Both conditions cause neonatal constipation (difficulty passing meconium), vomiting, abdominal distension, and dilated loop of bowels on X-ray.
    • Imperforate Anus: Absence of an anal opening.
    • Hirschsprung's Disease: Absence of ganglion cells, leading to lack of bowel relaxation and peristalsis in rectum and distal sigmoid colon.
    • Key differences are in the presence of anal anomalies and the clinical feature of explosive stool release in Hirschsprung's.

    Hyperbilirubinemia

    • Elevated bilirubin levels in the blood.
    • May have a genetic component.
    • High levels of unconjugated bilirubin are implicated in kernicterus.
    • Possible causes of hyperbilirubinemia include prematurity, exclusive breastfeeding, jaundice within 24 hours of birth, hemolytic disease, East Asian race, cephalhematoma/bruising, phototherapy in a sibling, and high risk zone bilirubin or TcB before discharge.
    • Treatment options include phototherapy and exchange transfusion.

    Other Important Topics

    • Board Questions & Answers: Provide specific board-style questions and answers for each topic.
    • Normal Intestinal Rotation: Visualization of the stages of intestinal rotation in a fetus.
    • Risk Factors for Hyperbilirubinemia: Factors associated with an increased risk.
    • Pathology of Hyperbilirubinemia: Unconjugated and conjugated forms.

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    Pediatrics GI PDF

    Description

    Explore the critical aspects of Pediatric Gastroenterology, focusing on conditions like vomiting in infants, Omphalocele, Gastroschisis, and more. This quiz will test your understanding of various gastrointestinal issues faced by infants and children. Enhance your knowledge on clinical presentations and underlying causes.

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