Disease Infancy

Question 1

Describe

Malformation, disruption, deformation

Answer 1

Malformation- problem of morphogenisis

Disruption- destruction of region that was normal

Deformation- compression/outside force leading to abnormal structure development

Question 2

Fetal Alcohol syndrome

Answer 2

No philtrum
Up-turned/long nose
Short
cognitive delays
Low birth weight

Question 3

Embryo vs fetus

Answer 3

Embryo= 3-8 weeks

Fetus 8-38

Question 4

Most common cause of neonatal mortality?

Scale?

Answer 4

Prematurity- less than 37 weeks

Extreme- less than 28
Very- 28-32
Moderate or late- 32-37

Question 5

Risk factors/ causes of prematurity(4)

Possible dangers/disease

Answer 5

Premature rupture or membrane
Uterine infection
Placenta/uterus abnormality
Multiple gestation

Respiratory distress syndrome
Necrotizing enterocolitis
Sepsis
Hemorrhage

Question 6

Respiratory distress syndrome

Answer 6

Alternating atelectasis(collapse) and dilation of alveoli.
Decreases pulmonary surfactant 

Seen with hyaline membranes
Ground glass x-ray
L/S ratio in amniotic fluid- want above 2 for lung maturity

Give glucocorticoids to mother to help stimulate baby growth of surfactant.

Question 7

Necrotizing enterocolitis

Answer 7

Ileum, cecum, right colon

Distended, friable, gangrenous
Seen in exray with large bubble along intestine.

Surgery repair may cause later malabsorption due to shortening of digestive tract

Question 8

Two routes for perinatal infection

Answer 8

Transcervial

Transplacental

Question 9

Fetal Hydrops vs Cystic hygroma

Answer 9

Hydrops- fluid accumulation in multiple compartments(pleural,peritoneal,skin)

Cystic hygroma-one space(neck- turners syndrome)

Question 10

Fetal Hydrops

Immune vs nonimmune

Answer 10

Immune- Rh factor

• type 2 hypersensitivity
• RBC breakdown= kernicturus, erthryroblastosis fetalis

Nonimmune

• cardiovascular defect
• chromosomes(45X, trisomy 21,18)
• Fetal anemia (thalassemia)

Question 11

PKU

Affect pregnancy?

Answer 11

Can’t make phenylalanine into tyrosine(phenylalanine hydroxilaze)

Retardation, albinism, musty odor

Excess phenylalanine can affect child due to metabolites/excess crossing placenta(stay on diet)

Question 12

Galactosemia

Answer 12

Accumulate Galactose-1- phosphate (GALT or galactokinase deficiency)

Liver damage, cataracts, CNS damage,

Question 13

Cystic fibrosis

Answer 13

Most common lethal genetic disease in Caucasian.

Commonly protein folding mutation= proteosome degradation)

Recurrent infection, pancreatic insufficiency, malnutrition, make infertility.

Meconiun illeus-plugged intestine due to impaired fat absorption, mucus in Small intestine

Question 14

Common CF infections

Answer 14

Staph aureus, haemophilus influenzas, paeudomonus aerogenosa.

Opportunistic B. Cenocepacia

Question 15

Heterotopia vs hamartoma

Answer 15

Heterotropia- normal cells in abnormal location

Hamartoma- excess overgrowth of tissue in native organ

Question 16

Neuroblastoma

Stats, mutation, appearance, chemical marker

Answer 16

Most common extracranial solid tumor of childhood.
MYC gene amplification

Large abdomen, age 2, “blueberry muffin” baby.
High chance of metastasis

Increase catecholamine production (90%)

Question 17

LLBB

What is it?

Answer 17

Lymph, liver, brain ,bone

Metastasis sites

Question 18

Wilms tumor

Chromosome associations?

Answer 18

Large abdomen mass. Kidneys
Hematuria, hypertension

blastemal, stromal and epithelium cells.

Common p53 mutation.

WAGR, Denys-Drash syndrome, Beckeith-Wiedeman

Question 19

WAGR

Where? Mechanism?

Answer 19

Deletion chromosome 11p13

Wilms tumor- WT1
PAX6- eye, brain, spine,pancreas

Androids, Genital abnormal, mental retard, wilms tumor

Question 20

Denys-Drash

Answer 20

Gonadal dysgenesis (male laeudohermaphratism)
Early nephropathy- wilms
Gonadoblastoma

Question 21

Beckwith-Wiedemann

Answer 21

Organometallic, macroglossia, omphalocele(intestine sac outside body)

Chromosome 11p15.5

Increase liver, pancreas, adrenal, muscle and kidney cancers

Question 22

Agenesis

Aplasia

Atresia

Answer 22

Agenesis - absence of organ and primordium

Aplasia- failure of organ after having primordium

Atresia- absence of opening (esophagus, trachea, Anal.

Question 23

Potter sequence is????

Answer 23

Syndrome due to oligohydramniosis

Flat facies
Abnormal hands/feet
Dislocated hips
Small lungs