Term
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Definition
| Incomplete development of part of the GI, often the esophagus |
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Term
| What is an esophageal atresia? |
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Definition
| A thin, non-canalized cord replaces a segment of esophagus, causing mechanical obstruction |
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Term
| Where do esophageal atresias most often occur? |
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Definition
| Most commonly at or near the tracheal bifurcation |
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Term
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Definition
| Closure of the abdominal musculature is incomplete and the abdominal viscera herniates into a ventral membranous sac. Can be repairs surgically but is often accompanied by other birth defects |
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Term
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Definition
| Ventral wall defect similar to omphalocele but involves all the layers of the abdominal wall from the peritoneum to the skin |
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Term
| What is the common outpouching of the alimentary tract? |
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Definition
Meckel Diverticulum
Includes all three layers of the bowel wall and is lined by mucosa and communicates with the lumen |
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Term
| What causes Meckel Diverticulum |
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Definition
| Failed involution of the vitelline duct which connects the lumen of the developing gut to the yolk sac |
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Term
| Where is Meckel Diverticulum located? |
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Definition
| Antimesenteric side of the small bowel |
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Term
| What are the Rules of 2 associated with Meckel Diverticulum? |
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Definition
Generally present within 2ft of the ileocecal valve
Approximately 2 inches long
2x as common in males than females
Most often symptomatic by age 2 (though the majority are asymptomatic) |
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Term
| Congenital Pyloric Stenosis is associated with what genetic abnormalities? |
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Definition
Turner syndrome and trisomy 18
More common in males |
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Term
| What are the symptoms of pyloric stenosis? |
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Definition
New onset regurgitation and persistent projectile, nonbilious vomiting in the 2nd or 3rd week of life
Hyperperistalsis and a firm, ovoid abdominal mass are present |
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Term
| How is pyloric stenosis treated? |
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Definition
| Surgical splitting of the muscularis (myotomy) is curative |
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Term
| What causes acquired pyloric stenosis? |
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Definition
| Antral gastritis or peptic ulcers close to the pylorus |
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Term
| What causes Hirschprung Disease (aka congenital aganglionic megacolon)? |
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Definition
Normal migration of neural crest cells from the cecum to rectum is arrested prematurely
Causes distal intestinal segments that lack both the Meissner submucosal and the Auerbach myenteric plexus |
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Term
| Hirschprung Disease is characterized by what symptoms? |
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Definition
Lack of coordinated peristaltic contractions causes functional obstruction resulting in dilation proximal to the affected segment
Rectum is ALWAYS AFFECTED but the length of the segments varies |
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Term
| Hirschprung disease involves what genetic factors? |
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Definition
Does not follow simple Mendelian inheritance
Linked to heterozygous loss of function mutations in the receptor tyrosine kinase RET
Males predominate
Common concurrence with Down Syndrome |
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Term
| How does Hirschprung disease present? |
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Definition
Neonatally often with failure to pass meconium in the immediate post-natal period, obstructive constipation
Can be present |
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Term
| How is Hirschprung disease treated? |
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Definition
Surgical resection and anastomosis
Normal bowel function and continence may take years to develop even after surgery |
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Term
| Where are Zenker Diverticulum located? |
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Definition
| Above the upper esophageal sphincter |
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Term
| Where are Epiphrenic Diverticulum located? |
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Definition
| Immediately above the esophageal sphincter |
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Term
| What causes esophageal stenosis? |
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Definition
Inflammation and scarring that may be caused by chronic gastroesophageal reflux, irradiation, or caustic injury, can be congenital
Dysphagia is usually progressive in nature |
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Term
| What are esophageal mucosal webs? |
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Definition
| Uncommon ledge-like protrusions of unknown pathogenesis of mucosa that may cause obstruction |
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Term
| Esophageal webs are most common among what demographic? What are its associated causes? |
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Definition
Women over 40
Often associated with gastroesophageal reflux, chronic graft-versus-host disease, or blistering skin disease |
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Term
| Upper esophageal webs accompanied by iron-deficiency anemia, glossitis, and cheilosis are due to what? |
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Definition
| Paterson-Brown-Kelly or Plummer-Vinson syndrome |
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Term
| What differentiates esophageal rings from esophageal webs? |
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Definition
| Are circumferential and thicker |
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Term
| Where are A esophageal rings located? |
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Definition
| The distal esophagus above the gastroesophageal junction |
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Term
| Where are B esophageal rings located? |
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Definition
The squamocolumnar junction of the lower esophagus
May have gastric cardia-type mucosa on their undersurface |
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Term
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Definition
Increased tone of the lower esophageal sphincter as a result of impaired smooth muscle relaxation
Characterized by the triad of incomplete LES relaxation, increased LES tone, and aperistalsis of the esophagus |
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Term
| What causes primary achalasia? |
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Definition
Failure of distal esophageal inhibitory neurons
Idiopathic |
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Term
| What causes secondary achalasia? |
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Definition
Chaga's Disease
Trypanosoma cruzi infection causes destruction of the myenteric plexus, failure of peristalsis, and esophageal dilation |
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Term
| How is achalasia treated? |
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Definition
Laparoscopic myotomy and pneumatic balloon dilation
Botulinum neurotoxin (botox) to inhibit LES cholinergic neurons can also be used |
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Term
| What causes Mallory-Weiss syndrome? |
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Definition
Most often associated with severe vomiting secondary to alcohol intoxication
Refluxing gastric contents overwhelm the gastric inlet and causes the esophageal wall to stretch and tear |
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Term
| How is Mallory-Weiss syndrome treated? |
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Definition
Generally does not require surgical intervention
Healing tends to be rapid and complete |
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