Infant Disorders

Question 1

What is cleft lip?

Answer 1

a structural deformity of the lip where there is an indent or deep fissure at midline, on one or both sides

Question 2

How prevalent is cleft lip?

Answer 2

1 in 700 births

Question 3

What is the etiology of cleft lip?

Answer 3

congenital, most often because of teratogens (smoking, viral infection, folic acid deficiency)

Question 4

During which period of gestation would a problem causing cleft lip occur?

Answer 4

week 5-8 are when the maxillary and nasal structures fuse

Question 5

What is cleft palate?

Answer 5

a structural deformity where there is incomplete fusion of the palatine strutures

Question 6

During which period of gestation would a problem causing cleft palate occur?

Answer 6

week 9-12 are when the palatine structure fuse

Question 7

What teratogen is strongly linked to cleft palate?

Answer 7

smoking

Question 8

How prevalent is cleft palate?

Answer 8

1 in 2000 births

Question 9

What other problem can often occur in cleft palate?

Answer 9

there may also be malformed nasal structures

Question 10

How is cleft palate treated?

Answer 10

surgically, may also need speech therapy

Question 11

What is pyloric stenosis?

Answer 11

muscle hypertrophy and constriction of the pylorus

Question 12

When does pyloric stenosis most often occur?

Answer 12

2-8 weeks after birth

Question 13

Is pyloric stenosis a structural or functional problem?

Answer 13

functional problem

Question 14

How prevalent is pyloric stenosis?

Answer 14

1 in 1000 births

Question 15

Does pyloric stenosis occur more frequently in male or female infants?

Answer 15

more often in male infants at a ratio of 4:1

Question 16

What causes pyloric stenosis?

Answer 16

it is idiopathic

Question 17

What are some features linked to pyloric stenosis?

Answer 17

1) hypergastrinemia (thought to be a measure to protect the esophagus)
2) PGE (prostaglandin E, a local hormone) exposure
3) erythromycin exposure (antibiotic)

Question 18

What is the pathology of pyloric stenosis?

Answer 18

• there is hypertrophy of muscle
• this causes constriction
• there is inflammation
• the inflammation/edema can cause obstruction

Question 19

What are the manifestations and complications of pyloric stenosis?

Answer 19

• if the pylorus becomes obstructed, the infant will have projectile vomiting
• this can lead to dehydration, malnutrition and growth problems

Question 20

How is pyloric stenosis diagnosed?

Answer 20

• history and presentation (small mass palpable in URQ

- ultrasound

Question 21

How is pyloric stenosis treated?

Answer 21

• surgically

Question 22

Is gastroesophageal reflux a common problem in infants?

Answer 22

yes

Question 23

When do infants normally experience gastroesophageal reflux?

Answer 23

50% of cases are in infants 0-3 months old

Question 24

Can gastroesophageal reflux in infants be cured?

Answer 24

Yes, it is self-limiting and reversible.

Question 25

Which sphincter is involved in gastroesophageal reflux?

Answer 25

cardiac sphincter

Question 26

What occurs in gastroesophageal reflux?

Answer 26

• gastric contents enter the esophagus via the cardiac sphincter
• high acidity causes inflammation and erosion - esophagitis?

Question 27

What is a complication of gastroesophageal reflux in infants?

Answer 27

Can lead to growth problems (the infant will experience pain and may not want to feed)

Question 28

How long does gastroesophageal reflux in an infant normally last?

Answer 28

around 1 year, it is self-limiting

Question 29

How is gastroesophageal reflux treated in an infant?

Answer 29

• treat the symptoms, can use antacids, H2RA, PPIs
• modify feeding technique (feed upright, thicken the feed and give smaller portions)
• surgery may be needed (fundoplication to fortify the cardiac sphincter)

Question 30

How prevalent is Hirschsprung Disease?

Answer 30

1 in 5000 births

Question 31

What causes Hirschsprung Disease?

Answer 31

it is a genetic problem - there is a RET gene mutation on chromosome 10 (the RET gene codes for proteins involved in cell signalling related to tissue formation)

Question 32

What problem does the gene mutation in Hirschsprung Disease cause?

Answer 32

• gene coding for the protein responsible for the formation of neural tissue in the colon is affeced
• result is lack of neural tissue in one portion of colon, causing NO peristalsis in that area

Question 33

What is the pathology of Hirschsprung Disease?

Answer 33

• areas of the colon lack PS ganglia
• localized lack of peristalsis
• accumulation of content
• colon distension
• abdominal distension

Question 34

How is Hisrchsprung Disease treated?

Answer 34

• surgically remove the aganlionic section

Question 35

What is intussusception?

Answer 35

• intestine invaginates into an adjoining part (usually a smaller diameter area into a larger diameter area due to pressure build up)

Question 36

Where does intussusception often occur?

Answer 36

• ileo-cecal valve area

Question 37

How common is intussusception?

Answer 37

1-4 in 1000 births

Question 38

What is the pathology of intussusception?

Answer 38

• invagination can lead to obstruction, inflammation, edema and ischemia if there is pressure on the walls
• necrosis, perforation, peritonitis are all possible

Question 39

How is intussusception treated?

Answer 39

• hydrostatic reduction (use water-soluble contrast medium and air pressure)
  DO NOT do this if there is perforation or obstruction, do surgical repair instead