Congenital Abnormalities & Esophagus

Question 1

Esophageal atresia and Tracheoesophageal fistula

Answer 1

Most common - Blind upper segment, fistula between blind lower segment and trachea
6% with TEF also have laryngeal cleft.

Question 2

Clinical w/TEF

Answer 2

VACTERL association- Vertebral anomalies, Anal atresia, Cardiac defects, Tracheoesophageal fistula and/or Esophageal atresia, Renal and Radial abnormalities, Limb defects
Salivation(drooling), choking, vomiting, cyanosis(overflow fluid is drawn into the trachea with secondary laryngospasm) with feeding
Esophageal atresia results in inability to swallow…polyhydramnios in utero

Question 3

Pyloric Stenosis

Answer 3

Major symptom: projectile (forceful) non-bilious vomiting, typically 2 to 8 weeks of age
Hypertrophy of smooth muscle layer of pylorus region of stomach.
Results in hypokalemic, hypochloremic metabolic alkalosis due to loss of gastric acid. A secondary hyperaldosteronism develops due to hypovolemia

Question 4

Duodenal Atresia

Answer 4

Equal M:F
30% have trisomy 21
40% born with polyhydramnios
Majority occur below ampulla of Vater
Double bubble sign as no air in intestines

Question 5

Imperforate anus

Answer 5

Most common form of congenital intestinal atresia, is due to a failure of the cloacal diaphragm to involute
Treatment: colostomy; perineal anoplasty

Question 6

Imperforate anus: Low lesion

Answer 6

Colon remains close to the skin…There may be stenosis of the anus or the anus may be missing altogether with rectum ending in a blind pouch.
Form in 90% of females.

Question 7

Imperforate anus: High lesion

Answer 7

Colon is higher up in the pelvis and there is a fistula connecting the rectum and the bladder, urethra or the vagina.
Persistant cloaca in which the rectum, vagina, and urinary tract are joined in a single tract/channel

Question 8

Diaphragmatic hernia

Answer 8

Incomplete formation of the diaphragm, assoc. with pulmonary hypoplasia.
Part of an organ is displaced and protrudes through the wall of the cavity containing it (often involving the intestine at a weak point in the abdominal wall).

Question 9

Bochdalek hernia

Answer 9

A postero-lateral diaphragmatic hernia, is the most common manifestation of CDH.
Majority occur on left side

Question 10

Morgagni hernia

Answer 10

Rare anterior defect of the diaphragm.
Characterized by herniation through the foramina of Morgagni which are located immediately adjacent to the xiphoid process of the sternum

Question 11

Diaphragm eventration

Answer 11

The diagnosis of congenital diaphragmatic eventration is used when there is abnormal displacement.
This rare type of CDH occurs because in the region of eventration the diaphragm is thin. Infants born with diaphragmatic hernia experience respiratory failure due to both pulmonary hypertension and pulmonary hypoplasia

Question 12

Omphalocele

Answer 12

Failure of midgut to return to abdominal cavity, and closure of the abdominal musculature is incomplete at umbilicus; covered by amnion, freq. assoc. with other anomalies (40%).
Larger omphalocele are associated with a higher risk of cardiac defects.[1]

Question 13

Gastroschisis

Answer 13

Closely related, not covered by amnion and is lateral to umbilicus; defect in the abdominal wall (usually just right of umbilicus) –young maternal age.
Antenatal ultrasound examination and maternal serum alpha-fetoprotein (MSAFP) screening has made the detection of gastroschisis possible in the second trimester of pregnancy

Question 14

Ectopic tissue rests

Answer 14

Presence of gastric or pancreatic tissue, relatively common

Can lead to inflammation, bleeding, scarring and obstruction

Question 15

Inlet Patch

Answer 15

An island of heterotopic gastric mucosa typically located at or just below the upper esophageal sphincter.
Rarely acid production causes ulceration, strictures, and dysphagia. Adenocarcinoma has also been rarely documented to develop from the inlet patch epithelium.

Question 16

Meckel Diverticulum

Answer 16

Most common malformation of small bowel
Failure of involution of the vitelline duct
Antimesenteric, found in distal ileum, within 1 m. of ileocecal valve
True diverticulum, contains all three layers of the bowel wall (mucosa, submucosa and muscularis propria)

Question 17

Meckel Diverticulum

Clinical

Answer 17

Heterotopic rests of gastric or pancreatic tissue found in mucosa about 33%-50%
Vast majority [~96%] are asymptomatic, but if symptomatic–
Symptoms: obstruction (intussusception), bleeding from peptic ulceration of adj. intestinal mucosa, pain/inflammation…can mimic appendicitis

Question 18

Rule of 2s for Meckel Diverticulum

Answer 18

2% of population
within 2 ft. of ICV
approx.  2 in. long
2M:1F
usually Sx by 2 y/o

Question 19

Hirschsprung Disease

Answer 19

AKA congenital aganglionic megacolon.
Portion of colon lacks both Meissner [submucosal] and Auerbach [myenteric] plexuses and ganglion cells.
Rectum is always affected.

Question 20

Hirschsprung Disease - Clinical

Answer 20

Diagnosed shortly after birth because of the presence of megacolon, or because the baby fails to pass the meconium within 48 hours of delivery.
Other symptoms include: green or brown vomit, explosive stools after a doctor inserts a finger into the rectum, swelling of the abdomen, lots of gas and bloody diarrhea.
Enlarged section of the bowel is found proximally, while the narrowed, aganglionic section is found distally.
Definitive diagnosis is made by suction biopsy of the distally narrowed segment.

Question 21

Dysphagia

Answer 21

Oropharyngeal (transfer) dysphagia: Difficulty in transferring food to esophagus or in initiating swallowing

Esophageal (transport) dysphagia: Difficulty in transporting down esophagus, food “gets stuck”…Nutcracker esophagus

Question 22

Nutcracker esophagus

Answer 22

Increased pressures during peristalsis, with a diagnosis made when pressures exceed 180 mmHg.
Two key symptoms: either with chest pain, which is usually found in disorders of spasm, or with dysphagia.
May also be associated with the metabolic syndrome, obesity, and GERD

Question 23

Esophageal Webs

Answer 23

Most common in the upper esophagus.
Upper esophageal webs accompanied by iron-deficiency anemia, glossitis, and cheilosis are part of the Paterson-Brown Kelly or Plummer-Vinson syndrome (increased risk of SCC).

Question 24

Esophageal Webs - Clinical

Answer 24

Main symptoms are pain and dysphagia.
Esophageal webs are associated with bullous diseases, graft versus host disease involving the esophagus, and with celiac.
Narrowing caused by mucosa and submucosa.

Question 25

Schatzki Ring

Answer 25

Narrowing of the lower part of the esophagus, caused by a ring of mucosal tissue or muscular tissue.
Sometimes asympt, sometimes dysphagia (steakhouse syndrome).

Question 26

Hiatal Hernias

Answer 26

The most common (95%) is the sliding hiatus hernia, where the GEJ moves above the diaphragm together with some of the stomach.
Most cases are asymptomatic.
The pain and discomfort that a patient experiences is due to the reflux of gastric acid, air, or bile

Question 27

Achalasia

Answer 27

Characterized by the triad of incomplete LES relaxation, increased LES tone, and aperistalsis of the esophagus.
Failure of distal esophageal inhibitory neurons during swallowing.
Dx by barium swallow and manometry.

Question 28

Achalasia - Clinical

Answer 28

Rare familial cases
Primary disorder in US; more common…cause unknown
Secondary -> Chagas disease (Latin America), diabetes, polio, etc..
Dysphagia which is progressive
Regurgitation/pain behind sternum/weight loss
Risk of squamous cell carcinoma (>5%)
Treatment - Sublingual nifedipine significantly improves outcomes; surgery also

Question 29

CREST Syndrome

Answer 29

Calcinosis, Raynaud’s, Esophageal dysfunction, Sclerodactyly, Telangiectasias.
A subtype of scleroderma, a family of diseases characterized by fibrosis of tissues, inflamed, abnormal blood vessels and autoantibodies (anti-DNA topoisomerase anti-Scl 70).
Lower two-thirds of esophagus has fibrous replacement of the tunica muscularis, giving a ‘rubber hose-like” tube.
Loss of function of the lower esophageal sphincter leads to GERD and Barrett esophagus.

Question 30

Mallory-Weiss Laceration

Answer 30

Severe retching or violent vomiting
Usually alcoholics
5-10% of UGI bleeds, but usually not profuse
Heals promptly
Demonstrates longitudinal lacerations.

Question 31

Boerhaave Syndrome

Answer 31

Vomiting
Increased esophageal intraluminal pressure
- seizure, childbirth, coughing,straining at defecation, weightlifting
Hematemesis and chest pain
Perforation of esophagus
- almost always on left side
Transmural or full-thickness perforation
Imaging - chest x-ray: pneumomediastinum; left pleural effusion; left pneumothorax
- esophagram: extravasation of contrast material

Question 32

Esophageal Varices

Answer 32

Related to portal hypertension
90% of cirrhotics, usually alcoholics (Also, Schistosomiasis mansoni or japonicum is 2nd cause worldwide)
Asymptomatic, until rupture causes massive hematemesis
> 30% fatality rate per episode…..50% re-bleed in 1 year

Question 33

Esophagitis

Answer 33

Caustic Agents: “Lye Strictures”
Infection Agents: (almost always associated with an altered immune status)
Candidiasis (“esophageal thrush”)
Herpesviruses (Herpes simplex, CMV)
Bacterial infection uncommon
Reflux esophagitis - GERD

Question 34

GERD

Answer 34

Heartburn, regurgitation of gastric contents into pharynx.
Dysphagia
Complications
Esophageal ulceration
Barrett mucosa
Stricture with stenosis
Long-term risk of adenoca
Loss of tone of the LES is the commonest cause of GERD
Treatment - lifestyle changes, proton pump inhibitors, H2 receptor blockers, or antacids with or without alginic acid

Question 35

Reflux esophagitis

Answer 35

Low-power view of the superficial portion of the mucosa. Numerous eosinophils within the squamous epithelium, elongation of the lamina propria papillae, and basal zone hyperplasia are present

Question 36

NERD

Answer 36

Many patients (F>M) thought to have GERD may not respond to usual Rx (PPIs) and don’t show evidence of erosion on EGD. Dubbed non-erosive reflux disease (NERD).

Question 37

Eosinophilic Esophagitis

Answer 37

Clinical characteristics, particularly failure of high-dose proton pump inhibitor treatment and the absence of acid reflux, are necessary for diagnosis. Seen in atopic individuals.
An allergic inflammatory condition

Question 38

Barrett Esophagus

Answer 38

Dysplasia w/squamous mucosa replaced by metaplastic glandular mucosa with goblet cells
Single most important ADCA risk factor, w/30-40x increase if > 3 cm (long segment)
Statins reduce incidence of ADCA.
Do not have symptoms.
It is considered to be a premalignant condition
The presence intestinal metaplasia, is necessary to make a diagnosis.

Question 39

Adenocarcinoma of the Esophagus

Answer 39

Increased incidence predominately in older white males and females and Hispanic men in the US.
The highest risk association is when there are abnormal changes in the cells of the glands in Barrett esophagus, termed “atypical” or “dysplasia.“
Tobacco and obesity also increase risk
Prognosis: Poor

Question 40

Adenocarcinoma of the esophagus - Clinical

Answer 40

Usually distal third of esophagus.
Commonly present with pain or difficulty in swallowing, progressive weight loss, hematemesis, chest pain, or vomiting.
Cancerous glands
Think infiltrating-(invading) holes sometimes filled w/mucin

Question 41

Squamous Cell Carcinoma of the Esophagus

Answer 41

Onset after age 50 freq. with history of heavy smoking/ethanol intake
Other factors: diet, achalasia, HPV, Plummer-Vinson, RaRx
M:F ratio 4:1
African-Americans 8:1 over Caucasians in US
Usually advanced at time of diagnosis
Prognosis: Dismal, 5-yr survival is <10%

Question 42

Squamous Cell Carcinoma of the Esophagus - Clinical

Answer 42

Mid-esophagus, most common (50%)…strictures…dysphasia, odynophagia, obstruction
Think…infiltrating islands of solid cells with pink keratin in the middle!
No mucin!
May invade surrounding structures.
Onset is insidious and ultimately produces dysphagia, odynophagia (pain on swallowing), and obstruction