Congenital anomalies

Question 1

Esophageal duplication

Answer 1

Looks like a cyst or malformation
Covered by two muscular layers
Lining has the same embryogenic origin as eso.

Sx: resp distress in neonate and dysphagia in older children

Dx: UGI, CT, EGD

Hint: contains gastric mucosa, so can erode from acid

Question 2

Esophageal stenosis

Answer 2

congenital malformation of eso. wall

three variants: tissue, muscle, cartilage
1. eso web or diaphragm
2. fibromuscular stenosis –> middle 1/3
3. cartiaginous tracheobronchial remnant –> distal eso.

Question 3

Associations with EA/TEF

Answer 3

VACTERL
CHARGE
Fanconi anemia
T21
Potter syndrome
McKusick-Kaufman syndrome

Question 4

Post-op complications of EA/TEF

Answer 4

1. anastomotic leak
2. anastomotic stricture
3. recurrent or missed fistula –> resp infections
   4.GERD
4. Tracheomalacia
5. Barrett (long term)

Question 5

Esophageal web features, location & association?

Answer 5

L:Proximal eso.

F: think membrane

A: Females
TEF, Zinker diverticulum
Plummer vinson syndrome
epidermolysis bullosa
GVHD, EoG, SJS

Question 6

Esophageal ring features, location & association?

Answer 6

L: Distal esophagus

F: hypertrophied circular m 1.5-2cm

Rx: dilation or resection

Question 7

what are the three stages of deglutition?
Pathological Sx with each stage

Answer 7

1. Oral –> drooling or open mouth posture
2. Pharyngeal –> dysphagia during swallowing
3. Esophageal –> dysphagia after swallowing
   Solid & liquids–> suggest eso motility disorder
   Solids only–> suggest eso anatomic disorder

Ask about:
feeding time
stressful times
resp sx while feeding
poor weight gain/loss

Question 8

Ddx of dysphagia in oral phase

Answer 8

choanal atresia/stenosis
sinus or nasal infection
celft lip/palate
craniofacial syndromes (micrognathia)
trauma
infection
mucositis
tonsillar hypertrophy/ tonsilitis
muscle hypotonia
CNS/CN injuries (spasticity, dystonia, paresis)
profound developmental delay

Question 9

Ddx of dysphagia in pharyngeal phase

Answer 9

pharyngeal webs
laryngeal stenosis
laryngeal web
cricopharyngeal dysfunction
neurological defects

Question 10

Ddx of dysphagia in esophageal phase

Answer 10

1. stricture- caustic ingestion, EoE, peptic esophagitis
2. Anatomic-diverticulum, TEF, webs
3. Disorders of motility-achalasia, spasms, nutcracker eso, systemic neuromuscular dysphagia (Lups, scleroderma, DM, amyloidosis, chagas, mito, para-neoplastic)
4. vascular- eso rings
5. Dermatologic- epidermolysis bullosa
6. inflammatory-EoE, radiation

Question 11

Testing for eso dysphagia

Answer 11

UGI contrast study
Monometry
VFSS
EGD
Laryngoscopy
impedance probe