Infant Disorders

Question 1

What is a cleft lip? what does it look like?

Answer 1

Can vary from an indentation to a fissure

May be unilateral or bilateral gap in upper lip extending to the nose

Question 2

Incidence of cleft lip

Answer 2

1 in 700 live births

Question 3

Etiology of cleft lip

Answer 3

teratogens (any factors that effect development of fetus)

i.e smoking, viral infections, folic acid deficiency

Question 4

(CL) What is the issue during development?

When is the critical period?

Answer 4

maxillary and ansal str do not fuse (wk 5-8 critical period)

Question 5

What other defect commonly comes along with cleft lift

Answer 5

Cleft palate

Question 6

Tell me all about cleft palate

including incidence, etiologic, critical period, tx

Answer 6

Incomplete fusion of palatine strs (wk 9-12) (bone str of skull- hard palate)
Strong link to smoking in pregnancy
~ 1 in 2000 births
Malformed nasal strs?
Sx required

Question 7

What is pyloric stenosis?

Answer 7

Muscle hypertrophy at pylorus (distal end of stomach) leading to constriction

Question 8

When does pyloric stenosis begin?

Answer 8

2-8 weeks after births

not congenital, but a functional problem

Question 9

Who more likely to develop pyloric stenosis? incidence?

Answer 9

~1 in 1000 births

4:1 Male to Female

Question 10

Etiology of pyloric stenosis

Answer 10

Idiopathic

Linked to hypergastrinemia, PGE (local hormone) & erythromycin exposure (medication side effects)

Question 11

Path leading to MNFTS of Pyloric stenosis

Answer 11

Hypertrophy -> constriction -> inflm -> obstr

Inflm is what causes obstr

MNFTS- Projectile vomiting, dehydration, malnourishment

Question 12

Dx and Tx of pyloric stenosis

Answer 12

Hx and Px
US ( and palpation to suggest it)

Tx involves Sx

Question 13

What is gastroesophageal reflux and what is it’s incidence in infants?

Answer 13

Gastric reflux via distal esophageal sphincter r/t incomplete closure

Common GI problem (~50% incidence)
(0-3 months common)

Question 14

Etiology of gastroesophageal reflux

Answer 14

Neuromuscular - it is a functional problem, not str or congenital

Question 15

Path and Complications of gastroesophageal reflux

Answer 15

Gastric contents -> esop -> esophagitis?

Growth problems?

Question 16

how is gastroesophageal reflux treated?

Answer 16

Mostly self limiting (~1yr) (But requires attention)

Symptomatic tx (antacid, PPI, H2RA)
Positioning
Modify feeding
Modify Feed (small thick meals)
Fundoplication ? (limited use, fortifying sphincter)

Question 17

What is Hirschsprung Disease? Incidence?

Answer 17

Disorder sometimes called megacolon often developing in infancy related to inadequate stimulation of peristalsis in colon.
~ 1 in 5000 births

Question 18

Etiology of Hirschsprung Disease?

Answer 18

•RET gene mutation, CHr 10

Codes for Proteins are involved in cell signaling for formation of tissue

Disorder is r/t neural tissue in the colon (neural innervation of muscle required for peristalsis)

Question 19

Patho of Hirschsprung Disease

Tx?

Answer 19

Areas of colon lack PS ganglia -> no peristalsis (localized) -> accum of contents -> colon distention -> abdm distention.

Perf possible and peritonitis

Question 20

What is Intussusception?

Answer 20

Intestine invaginates into adjoining section

Question 21

Where is Intussusception like to occur?

Answer 21

Mostly at ileocecal valve (r/t smaller vessel pushing into larger diameter vessel)

Question 22

Incidence of Intussusception

Answer 22

1-4 in 1000 birth

Question 23

Describe the Patho and potential complications of Intussusception

Answer 23

invagination -> obstr -> inflm -> edema -> ischemia

necrosis, perf and peritonitis possible

Question 24

Tx of Intussusception

Answer 24

Hydrostatic reduction
Water-soluble contrast medium and air pressure

Some require Sx