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GI - 2 > 17-1 -- Congenital Anomalies > Flashcards

17-1 -- Congenital Anomalies Flashcards

1
Q

Many organs develop simultaneously, thus if there is a GI anomaly it should prompt?

A

Evaluation of other organs

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2
Q

Atresia

A

Incomplete development

– Anus most common

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3
Q

Esophageal Atresia involves the esophagus not fully developing. What will it create anatomically and cause?

A
  • Creates a thin, noncanalized cord

= Mechanical obstruction

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4
Q

Fistulas between the esophagus and trachea are common because they both develop from the foregut. What other defects will those with TE fistulas present with?

A

Cardiac defects

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5
Q

Esophageal Stenosis

A

Lumen of the esophagus is decreased due to fibrous wall thickening

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6
Q

Possible symptoms of Esophageal Stenosis?

A

Partial or complete obstruction

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7
Q

How does a Diaphragmatic Hernia develop?

A

Incomplete formation of the diaphragm allows the abdominal viscera to herniate up into the thoracic cavity

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8
Q

Diaphragmatic Hernias usually develop on which side?

A

Left side

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9
Q

What main sign will be seen with Diaphragmatic Hernias?

A

Pulmonary Hypoplasia

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10
Q

Omphalocele and Gastroschisis both involve herniation which direction?

A

Ventrally

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11
Q

Omphalocele

A

Abdominal viscera and liver covered by amnion and peritoneum

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12
Q

Gastroschisis

A

ALL layers of abdominal wall herniate

- usually intestine

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13
Q

Abdominal viscera and liver fail to return to abdominal cavity – covered by amnion and peritoneum

A

Omphalocele

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14
Q

ALL layers of abdominal wall herniate ventrally

A

Gastroschisis

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15
Q

Gastroschisis is usually an ____ defect

A

Isolated

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16
Q

Most common GI ectopic tissue issue?

A

Gastric mucosa in upper 1/3 of esophagus

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17
Q

What can ectopic gastric mucosa cause in the upper esophagus?

A

Acid secretion

= GERD, dysphagia, Barrett’s Esophagus, Adenocarcinoma

18
Q

What can ectopic pancreatic tissue cause?

A

Damage and inflammation

19
Q

What can mimic invasive cancer?

A

Ectopic tissues

20
Q

Meckel Diverticulum

A

Blind outpouching of GI tract that communicates with lumen and all 3 bowel wall layers

21
Q

Most common site of Meckel Diverticulum?

A

Ileum

- Blind outpouching of GI tract that communicates with lumen

22
Q

What causes a Meckel Diverticulum?

A

Failed involution of vitelline duct

23
Q

Rule of 2’s is seen with?

A 
Meckel Diverticulum
= Symptoms at 2 years old, 2X more males, 
2 feet above ileocecal junction
2 inches long
2% of population
24
Q

Rule of 2’s

A
  • Symptoms at 2 years old
  • 2X more common in males
  • Within 2 feet of ileocecal junction
  • 2 inches long
  • 2% of population
    = Meckel Diverticulum
25
Q

What is often seen with Meckel Diverticulum?

A

Ectopic gastric or pancreatic tissue

26
Q

Symptoms of Meckel Diverticulum?

A

Peptic ulcers, bleeding, pain

27
Q

Pyloric Stenosis

A

Narrowing/hyperplasia of pylorus

= Food cannot leave stomach easily

28
Q

Risk factors for Pyloric Stenosis?

A
  • Males, Monozygotic twins, Turner syndrome (45XO), Trisomy 18
  • Exposure to erythromycin or azithromycin after birth
29
Q

Symptoms of Pyloric stenosis usually present when?

A

3-6 weeks of life

30
Q

Symptoms of Pyloric Stenosis?

A
  • Regurgitation, projectile non-bilious vomiting
  • Demanding re-feeding
  • Firm, ovoid abdominal mass
  • Abnormal left to right peristalsis before vomiting
31
Q

Symptoms of Pyloric Stenosis?

A
  • Regurgitation, projectile non-bilious vomiting
  • Demanding re-feeding
  • Firm, ovoid abdominal mass
  • Abnormal left to right peristalsis before vomiting
32
Q

Describe how Hirschsprung Disease arises

A
  • NCC migration from cecum to rectum arrested prematurely
  • Distal intestinal segment lacks Meissner Submucosal Plexus AND Auerbach Myenteric Plexus
    = NO peristaltic contractions, (+) obstruction, Proximal dilation
33
Q

Hirschsprung Disease arises due to?

A

NCC migration from cecum to rectum arrested prematurely

= Aganglionosis

34
Q

With Hirschsprung Disease, what is always affected?

A

Rectum

35
Q

With Hirschsprung Disease, what innervations is the affected segment missing?

A
  1. Meissner Submucosal Plexus

2. Auerbach Myenteric Plexus

36
Q

Symptoms of Hirschsprung Disease?

A

NO peristaltic contractions
(+) for obstruction
= Proximal DILATION of bowel

37
Q

What loss of function mutations are seen with Hirschsprung Disease sometimes?

A

Mutations in Receptor Tyrosine Kinase, RET

- EDN

38
Q

Hirschsprung Disease has an association with?

A

Down Syndrome

39
Q

How does Hirschsprung Disease affected males/females?

A

Males more commonly affected

Females aganglionic segment is longer

40
Q

With Hirschsprung Disease, what is always affected?

A

Rectum

GI - 2 (61 decks)

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