Module 8:PEDS: Causes of death,birth injuries, Congen. Abnorm, Comp. of Preg

Question 1

Starting off with PEDS what are the various age classifications when it comes to death?

Answer 1

Neonates = first 4 weeks after birth
Infancy = 1st year
Early childhood = 1-4 years
Late childhood = 5-14 years

Question 2

What are the various causes of death for the different age groups?

Answer 2

Under 1 yr: congenital malformations, LBW and SIDS
1-4 years: accidents, congenital abnormalities, assault/homicide
5-9 yrs: Accidents, malignant neoplasms, congenital abnormalities
10-14 yrs: Accidents, malignant neoplasms, assault/homicide

Question 3

What are the pre-disposing factors for birth injuries?

Answer 3

Cephalopelvic disproportion
Difficult labor (breech presentation)
Prematurity

Question 4

What cranial injuries can arise during birth?

Answer 4

Caput succedaneum: compression of venous and lymph drainage — swelling: resolves spontaneously
Cephalohematoma
Skull Fractures
Intracranial hemorrhage

Question 5

What peripheral injuries can arise during birth?

Answer 5

Brachial palsy: due to pulling during birth

Facial nerve palsy

Question 6

What is the most common birth injury?

Answer 6

Clavicle fracture

–humerus fracture is also super common

Question 7

Moving on to congenital Abnormalities what is the presentation for Downs Syndrome (Trisomy 21)?

Answer 7

Mental Retardation 
Flat Facies 
Prominent Epicanthal Folds 
Simian Crease 
Gap b/w 1st and 2nd toes 
Duodenal atresia 
Congenital Heart Disease: ASD, VSD and septum primum! 
Increased risk of ALL (over 5) and Alzheimers Disease 
Increased risk for Leukemia!!!

Question 8

What gene mutations are in Down’s Syndrome (Trisomy 21)?

Answer 8

DYRK1A and RCAN1

Question 9

What are some features of Klinefelter’s Syndrome (XXY)?

Answer 9

Men are Sterile!!!

• -male hypogonadism: in the presence of at least two x chromosomes and one or more Y chromosomes
• -TESTICULAR ATROPHY!

Question 10

What are features of Turner’s Syndrome (XO)?

Answer 10

FEMALES

• -short stature, streak ovaries, coarctation of aorta, and horseshoe kidney
• -dysgerminoma!!!

Question 11

What gene is responsible for Turner’s Syndrome?

Answer 11

Homeobox Gene

Question 12

22q11.2 deletion syndrome- diagnosed by FISH, what are some features?

Answer 12

Velocardiofacial Syndrome: congenital heart disease and developmental delay
DiGeorge Syndrome: TBX1 gene loss: thymic and parathyroid hypoplasia
–PSYCHOSIS IN BOTH SYNDROMES (schizophrenia and bipolar disorder)

Question 13

What are some environmental reasons for congenital abnormalities?

Answer 13

Maternal/placental infections: rubella, toxo, syphilis
Maternal Diseases: PKU
Drugs/Chemicals: alcohol – fetal alcohol syndrome
Irradiation

Question 14

What is the most common cause of congenital malformations?

Answer 14

Multifactorial Inheritance!

cleft lip/palate and neural tube defects

Question 15

What is polygenic congenital abnormalities?

Answer 15

Timing of prenatal insult has an impact on both the occurrence and type of malformation produced

Question 16

What genes regulate morphogenesis?

Answer 16

Genes that regulate morphogenesis are targets of teratogens:
–Homeobox (HOX) genes: defect cause limb abnormalities
valproic acid and Retinoic acid (Acne): cleft lip
-Sonic hedgehog gene: holoprosencephaly

Question 17

There various errors in morphogenesis, each card will go through one. First is malformations, what are some features?

Answer 17

Malformations: primary structural abnormality with poor formation of tissue due to a localized error that occurs during development (intrinsically abnormal developmental process)
–most children are otherwise normal apart from the defect (polydactyly or cleft lip)

Question 18

The second error in morphogenesis is disruptions, what are some features?

Answer 18

Caused by secondary destruction of a previously normally formed part due to an extrinsic disturbance

Question 19

The third error in morphogenesis is deformation, what are some features?

Answer 19

Compression of the growing fetus by abnormal biomechanical forces
–maternal factors: first pregnancy, small uterus and leiomyomas
–fetal factors: multiple fetuses
Uterine constraint most common cause!!!!

Question 20

The fourth error in morphogenesis is sequence, what are some features?

Answer 20

Multiple congenital abnormalities that result from secondary effects of a single localized aberration in organogenesis (Ex. potter sequence)

Question 21

The last error in morphogenesis is malformation syndrome, what are some features?

Answer 21

Presence of over 1 developmental anomalies with greater than 2 systems due to a common etiology
–none of these disorders occur more frequently than 1 in 3000 births EXCPET: down syndrome and XXY syndrome

Question 22

Moving on to premature and fetal growth, what is considered small and large for gestational age?

Answer 22

Small (SGA): birth weight less than 10%

Large (LGA): birth weight greater than 90% – caused by maternal diabetes

Question 23

What is the criteria for premature and LBW?

Answer 23

Premature: less than 37 weeks
LBW: less than 2500 grams

Question 24

What are fetal, placental and maternal causes of fetal growth restriction/IUGR?

Answer 24

Fetal causes: symmetric (Brain and other organs are proportional)
Placental Causes: asymmetric (other organs are smaller than the brain)
Maternal Causes: asymmetric (other organ are smaller than the brain)

Question 25

What are the risk factors for prematurity?

Answer 25

Premature rupture of membranes
Intrauterine infections
Structural abnormalities of the uterus, cervix and placenta
Multiple gestations

Question 26

What is the most common complications of prematurity in a neonate?

Answer 26

Hyaline membrane disease (respiratory distress syndrome)

• -caused by maternal diabetes
• -ground glass appearance on x-ray

Question 27

What is the pathogenesis for hyaline membrane disease?

Answer 27

Immature type II pneumocytes

• -1st several hours: necrotic cellular debris in terminal bronchioles and alveolar ducts
• -12-24 hours: hyaline membranes composed of necrotic alveolar type II pneumocytes + fibrin
• -greater than 1 day: reparative changes

Question 28

What is the treatment and prevention for hyaline membrane disease?

Answer 28

Prevention: delay labor untill lung matures, induce maturation with steriods and evaluate amniotic fluid phospholipids
Tx: ventilatory support and surfactant replacement therapy

Question 29

There are two complications associated with hyaline membrane disease. What are they?

Answer 29

Retrolental fibroplasia: retinopathy of prematurity due to oxygen toxicity and VEGF
Bronchopulmonary dysplasia: arrested development of alveolar septation at saccular stage of development — dysmorphic capillary configuration

Question 30

A complication of prematurity is necrotizing enterocolitis, what is this?

Answer 30

premature infant with history of asphyxia develops signs of obstruction after oral feedings have begun – coagulative necrosis of terminal ileum, cecum and right colon.

Question 31

What are the predisposing factors, diagnosis, and complications of necrotizing enterocolitis?

Answer 31

Predisposing factors: intestinal ischemia, bacterial colonization of the gut and administration of formula feeds
Dx: abdominal radiographs show dilated loops of bowel (pneumotosis intestinalis – multiple small air filled spaces beneath the mucosa)
Comp: early = sepsis and delayed = malabsorption syndrome

Question 32

Another complication of prematurity is intraventricular and germinal matrix hemorrhage, what is this?

Answer 32

b/c richly vascular area with thin walled capillaries that are very sensitive to anoxia

Question 33

What is Apgar scoring?

Answer 33

Predicts perinatal morbidity but NOT a reliable indicator of long term neurologic outcome

• -1 minute score
• –5 minute score