congenital/metabolic disorders

Question 1

esophageal atresia tx

Answer 1

surgical;

pulmonary aspiration should be prevented in the interim by suction and withholding of oral feedings

Question 2

what is esophageal atresia assoc with

Answer 2

tracheoesophageal fistulae

Question 3

what is atresia

describe esophageal atresia

how to dx

Answer 3

absence or closure of an opening

atresia presents in newborns as excessive saliva and choking or coughing with attempts to feed

inability to pass an NG tube will establish diagnosis

Question 4

bowel sounds heard in chest

Answer 4

diaphragmatic hernia: immediate respiratory distress

Question 5

what is pyloric stenosis

gender affected

Answer 5

gastric outlet obstructed by pyloric hypertrophy.

affects males mainly. 5 times more likely

Question 6

olive shaped mass on abdominal exam; shortly after vomiting

Answer 6

pyloric stenosis

Question 7

string sign on barium swallow

Answer 7

pyloric stenosis

Question 8

tests for pyloric stenosis

Answer 8

ultrasonography will demonstrate the lesion

and barium swallow shows delayed emptying and a “string sign”

Question 9

where does bowel atresia most commonly occur

occurs when

Answer 9

ileum

occurs in the first few days of life

Question 10

what causes hirschsprungs disease

Answer 10

congenital absence of Meissner’s and Auerbach’s autonomic plexuses innervating the bowel wall

Question 11

diaphramatic hernia in a newborn

causes what

dx/imaging

tx

Answer 11

causes immediate respiratory distress in the newborn b/c the affected lung is compressed by the pressure from abdominal contents

dx made by bowel sounds heard in chest

xray show loops of bowel involved in the hemithorax, with displacement of the heart and mediastinal structures

tx is surgery

immediate intubation and ventilation is required, along with suction of the stomach by NG tube

Question 12

progressive, non bilious, often projectile vomiting in a child that remains hungry

Answer 12

pyloric stenosis

Question 13

pyloric stenosis

ages

2 symptoms (not the olive mass)

Answer 13

4-6 weeks of age

wt loss and dehydration

Question 14

hirschsprungs disease

sx

tx

Answer 14

constipation or obstipation

vomiting, failure to thrive

tx is surgical resection of the affected bowel

Question 15

screening in phenylketonuria

Answer 15

screening at birth is simple and allows early detection and management;

delay in diagnosis(after age 3 years) will lead to irreversible brain damage

Question 16

what is phenylketonuria

common?

hereditary?

Answer 16

rare autosomal recessive inability to metabolize the protein phenylalanine

Question 17

what is phenylalanine

Answer 17

accumulate in the central nervous system, causing mental retardation and movement disorders

Question 18

what is obstipation

Answer 18

inability to pass stools or gas

Question 19

management of phenylketonia

Answer 19

low phenylalanine diet and tyrosine supplementation

strict control of protein intake is required for life

breast milk is low in phenylalanine

Question 20

lactose

describe production

age

country

Answer 20

digested by lactase

produced in the small intesting

persistance of lactase production past the age 12 years is common in northern european populations

Question 21

.what is kernicterus

Answer 21

cerebral dysfunction and encephalopathy,
due to bilirubin deposition in brain tissue, >20

Question 22

.describe neonatal jaundice

Answer 22

jaundice presents on days 3-5 and bilirubin levels fall in about 50% of neonates in the first week of life

Question 23

.what is dubin-johnson syndrome

think 3 Ds

what is rotor syndrome

Answer 23

hereditary conjugated direct hyperbilirubinemia due to decreased hepatocyte excretion of conjugated bilirubin. gene mutation.

dublin, direct bilirunemia, dark liver(black)

rotor similar but no black liver

Question 24

.what is crigler najjar syndrome

Answer 24

hereditary unconjugated(indirect) hyperbilirubinemia due to no or little ugt activity.

ugt is needed to convert indirect bilirubin

Question 25

.what is gilberts syndrome

Answer 25

hereditary unconjugated bilirubin hyperbilirubinemia