Lecture 8: Congenital Disorders of the Abdominal Wall and GI System - Flashcards

Foregut

• Pharynx

• Lower respiratory system

• Esophagus

• Stomach

• Proximal duodenum

• Liver and the biliary tree

• Pancreas

Midgut

• Distal duodenum

• Jejunum and ileum

• Appendix

• Ascending colon

• Proximal transverse colon

Hindgut

• Distal transverse colon

• Descending colon, sigmoid, and rectum

• Proximal anal canal

Esophageal Atresia (EA)

Caused by a defect in the lateral septation of the foregut into the esophagus and trachea

Tracheoesophageal Fistula (TEF)

thought to derive from a branch of the embryonic lung bud that fails to undergo branching because of defective epithelial-mesenchymal interactions

-congenital heart or genitourinary defects

• VACTERL or CHARGE associations

• Anopthalmia-esophageal genital syndrome

other anomalies that are assoc with EA and TEF

CHARGE

coloboma of the eye, heart anomalies, choanal atresia, retardation, genital and ear anomalies

Polyhydamnios

EA is associated with what during pregnancy

Esophageal Atresia

• Become symptomatic immediately after birth

• Excessive secretions that cause drooling, choking, respiratory distress, and the inability to feed

Tracheoesophageal Fistula (TEF)

-leads to gastric distenstion

-reflux of gastric contents

-aspiration pneumonia and contributes to morbidity

H-Type TEFs

Large defect:

• May present early with coughing and choking associated with feeding as the milk is aspirated through the fistula

H-Type TEFs

Smaller defect:

• May be asymptomatic in the newborn period

• Delay in diagnosis

• prolonged history of mild respiratory distress associated with feeding or recurrent episodes of pneumonia

• Rarely diagnosed in adolescence or adulthood

Esophageal Atresia

-Attempting to pass a catheter into the stomach (NG or OG)

-Catheter cannot be passed further than approximately 10 to 15 cm

confirmed with an AP CXR.

Distal Tracheoesophageal Fistula (TEF)

• Often seen on lateral CXR

• Gas-filled gastrointestinal tract

Esophageal Atresia

Small amount of water-soluble contrast material placed in the esophageal pouch under fluoroscopic guidance will confirm the presence of ____________________

Esophageal Atresia and TEF

Tracheoesophageal Fistula (TEF)

VACTERL

• Vertebral Defects

•Anorectal Atresia

• Cardiac Defects

• Tracheoesophageal Fistula

• Renal Dysplasia

• Limb defects

Prone Position

how to prevent aspiration in EA and TEF?

-Avoid endotracheal intubation

-Surgical correction

-Prone position

management of EA and TEF

Congenital Diaphragmatic Hernia (CDH)

Defined as communication between the abdominal and thoracic cavities with or without abdominal contents in the thorax

5th and 8th weeks

Congenital Diaphragmatic Hernia (CDH) is due to abnormalities in development that occurs during what weeks?

Congenital Diaphragmatic Hernia (CDH)

Causes

• Unknown

• Spontaneous mutation, Rare genetic forms

• Vitamin A deficiency

• Exposure to Thalidomide, anticonvulsants, and quinine

Morgagni Hernia

retrosternial diaphragmatic hernia

Bochdalek

posterolateral diaphragmatic hernia

Congenital Diaphragmatic Hernia (CDH)

Congenital Diaphragmatic Hernia (CDH)

• Respiratory distress within the first several hours after birth

• Barrel-shaped chest

• Scaphoid abdomen

• Absence of breath sounds on the ipsilateral side

-may hear bowel sounds in chest

-PMI is displaced to right

• Prenatal Ultrasound (polyhydraminos, chest mass, gastric bubble)

• CXR after delivery

how do you diagnose congenital diaphragmatic hernia?

-Immediate Endotracheal Intubation

-Sedation

-NG tube

-Extracorporeal Membrane Oxygenation (ECMO)

management of congenital diaphragmatic hernia

Pulmonary Hypoplasia

the major limiting factor for survival for congenital diaphragmatic hernia

Omphalocele

Herniation of abdominal contents into the base of the umbilical cord

• Sac is covered with peritoneum without overlying skin

Omphalocele

• The abdominal cavity is proportionately small/underdeveloped

-assoc with syndromes like: Beckwith Wiedemann syndrome and Congenital heart defects

4th to 5th week

what weeks of development?

• The flat embryonic disk folds in four directions and/or planes: cephalic, caudal, and right and left lateral

• Each fold converges at the site of the umbilicus, thus obliterating the extraembryonic coelom

4th to 5th week

what weeks of development?

• The lateral folds form the lateral portions of the abdominal wall

• The cephalic and caudal folds make up the epigastrium and hypogastrium

• Rapid growth of the intestines and liver also occurs at this time

6th Week (8 weeks from Last menstrual period)

what weeks of development?

Physiologic midgut herniation: The abdominal cavity temporarily becomes too small to accommodate all of its contents, resulting in protrusion of the intestines into the residual extraembryonic coelom at the base of the umbilical cord

7th-9th weeks

what weeks of development?

Physiologic midgut herniation is sonographically evident

11th week

what weeks of development?

Midgut herniation is no longer physiological

Liver

what organ does not undergo physiologic migration outside the abdominal cavity during development and therefore is never present in midgut herniation?

Lateral folds fail to close

what is the cause of a liver-containing omphalocele?

Omphalocele

associated with a high frequency of fetal aneuploidy when they

contain only small bowel

Week 10

the abdominal contents fo the fetus should return to the abdominal cavity by what week of gestation?

• Maternal serum alpha-fetoprotein concentration (MSAFP) is elevated in 70%

• 2nd trimester Ultrasound

• Sometimes at birth

diagnosis of omphalocele

• Preserve heat and minimize insensible fluid loss

• Orogastric tube to decompress the stomach

• Stabilize the airway

• Tissue must be covered with saline soaked sterile dressings

Management of omphalocele

Mersilene mesh to cover tissue of organs

what do you do if the sac of an omphalocele ruptures

• Primary closure for small defects (<2 cm)

• Staged closure for larger defects (Dacron-reinforced silastic silo)

surgical repairs for omphaloceles

Gastroschisis

• Defect lateral to the median plane of the anterior abdominal wall

• Extrusion of the abdominal viscera without involving the umbilical cord

• There is no peritoneal sac covering

Right

a gastroschisis is usually on what side?

Gastroschisis

• Intestine is usually only herniated organ

• Bowel is often thickened, matted and edematous

• Higher incidence of intestinal atresia, stenosis, perforation, necrosis, or volvulus

Gastroschisis

• Involves defective formation or disruption of the body wall in the embryonic period, with subsequent herniation of bowel

• Typically NOT associated with extra intestinal or chromosomal anomalies

• Elevated maternal serum alpha fetoprotein (MSAFP) level during 2nd trimester in 90%

• Prenatal ultrasound

diagnosis of Gastroschisis

Gastroschisis

Omphalocele

• Preserve heat and minimize insensible fluid loss

• Orogastric tube to decompress the stomach

• Stabilize the airway

• Safely cover the protruding tissues

Management of Gastroschisis

• Primary closure

• Staged closure

• Dacron-reinforced silastic silo

• "Gentle touch"

• Slower process allowing gravity to reduce bowel before closure

Surgical repair of gastroschisis

Gastroschisis

is overall survival higher for omphaloceles or Gastroschisis?

Silos

Umbilical Hernia

• Defined as protrusion of intestines through a defect in the abdominal wall muscles

• Also associated with diastasis recti

• Mostly seen in African American children and low birth weight babies

Umbilical Hernia

• Typically noted as a soft reducible bulge over the umbilicus which becomes more protuberant during crying, coughing or straining

• Ranges in size from less than 1 cm to as large as 5 cm

• Most resolve with no intervention by 1 year of age

• If still present or worsening, it requires surgical intervention usually around 4-5 years of age

describe treatment for an umbilical hernia

Umbilical Hernia

Prune Belly Syndrome

Also called Triad syndrome OR Eagle-Barrett Syndrome

Prune Belly Syndrome

Congenital disorder defined by a characteristic clinical triad:

• Abdominal muscle deficiency

• Severe urinary tract abnormalities

• Bilateral cryptorchidism in males

Prune Belly Syndrome

A primary defect in the intermediate and lateral plate mesoderm affects embryogenesis of the musculature of the abdominal wall, the mesonephric and paramesonephric ducts, and the urinary organs

Prune Belly Syndrome

Associated Anomalies at birth:

• Oligohydraminos and pulmonary hypoplasia are common perinatal complications

• Kidneys show varying degrees of dysplasia

• Malrotation of the bowel is often present

Prune Belly Syndrome

-Antibiotic Prophylaxis (to prevent UTI)

• Orchidopexy is typically done in the first 6 months of life

treatment for prune belly syndrome is there is no urethral obstructions

-Vesicostomy

• Orchidopexy is typically done in the first 6 months of life

treatment for prune belly syndrome is there is a urethral obstructions

Neonatal Intestinal Obstruction

• Meconium Plug (Earlier)

• Intestinal Atresia (Earlier)

• Hirschsprungs Disease (Later)

• Pyloric Stenosis (Later)

• Malrotation with or without volvulus

Intestinal Atresia

most common cause of obstruction in the neonatal period

Bilious Emesis

-Treated as a life-threatening emergency because this is often a symptom of obstruction due to intestinal atresia or mid-gut volvulus