Ch 17 Congenital abnormalities Flashcards
If you have a patient with a GI congenital disorder, what should be running through your mind?
Evaluation for other congenital abnormalities of other organs
Where does esophageal atresia most commonly occur? What is this associated with?
Near the tracheal bifurcation and is usually assoc. with a fistula connecting upper or lower esophageal pouches to bronchus or trachea
What are possible complications of a fistula?
Aspiration Pneumonia Suffocation Severe fluid & electrolyte imbalances
Developmental abnormalities of the esophagus are associated with ___, ___, and ____.
Developmental abnormalities of the esophagus are associated with congenital heart defects, GI malformations, and neurologic disease.
Is intestianl or esophageal atreasia more common?
Esophageal
What is the most common form of congenital intestinal atresia?
- imperforate anus due to failiure of cloacal diaphragm to involute
How does a diaphragmatic hernia occur?
- incomplete formation of diaphgram allows the abdominal viscera to herniate into the thoracic cavity
Omphalocele occurs when ______.
- closure of the abdominal musculature is incocmplete and the abdominal viscera herniate into ventral membranous sac
What is gastroschisis?
- similar to omphalocele except it involves all layers of abdominal wall from peritoneum to skin
Where are ectopic tissues common in the body?
GI tract
Where is the most frequent site of ectopic gastric mucosa?
- upper third of esophagus and it is called inlet patch
What is a gastric heterotopia? How does it present?
- small patches of ectopic gastric mucosa in the small bowel or colonn and can present with occult blood loss due to peptic ulceration
What is a true diverticulum?
- blind outpouching of the alimentary tract that communicates with the lumen and includes all three layers of the bowel
What is the most common true diverticulum and where does it occur?
- Meckel diverticulum and it occurs in the ileum
What duct fails to involute in meckels diverticulum?
Vitelline duct which connects lumen of the developing gut to the yolk sac
What occurs in 2% of the population, present within 2 feet of the ileocecal valce, twice as common in males than females, and are symptomatic by age 2?
Meckel’s diverticulum
Who is congenital hypertrophic pyloric stenosis more common in?
- Males and monozygotic twins
What two genetic disorders have an increased risk of congenital hypertrophic pyloric stenosis?
- Trisomy 18
- Turner syndrome
What has been linked to increased incidence of hypertrophic pyloric stenosis?
- Erythromycin or azithromycin exposure first 2 weeks of life orally or through breast milk
A mother brings her 4 week old infant to the pediatrician complaining of the infant spitting up a lot more than normal after feedings, as well as projectile vomiting. She says he seems hungry often, and has these reactions after eating.
What is going on?
What physical finding can indicate this?
What is the treatment?
- Congenital hypertrophic pyloric stenosis
- 1-2 cm abdominal mass (olive like)
- Myotomy (surgical splitting of muscularis)
How do adults get pyloric stenosis?
- as a result of having antral gastritis or peptic ulcers near the pylorus
10% of all Hirschsprung cases occur in patients with ___.
10% of all Hirschsprung cases occur in patients with down syndrome
What genetic defect causes Hirschprung’s disease?
LOF of the receptor tyrosine kinase RET
What leads to the “mega” part of Hirschprung disease?
- The normally innervated proximal parts of the colon dilate to accomodate the lack of movement in the aganglionic part
- This can lead to rupturing
- commonly near cecum
