Pediatric Pathology

Question 1

Congenital abnormality

Answer 1

Morphologic defects present at birth

–>#1cause of mortality in the first year of life

Question 2

Malformation

Answer 2

INTRINSIC abnormality

• Teratogen
• Genetic aberration
• Maternal Disease

Question 3

Deformation

Answer 3

EXTRINSIC abnormality

• compression of growing fetus
• mechanical error in dev
• –>secondary to another condition usually(oligohydraminos)

Question 4

Disruption

Answer 4

EXTRINSIC abnormality

• Destruction of previously normal formed structure
• ->digit loss

Question 5

Syndrome

Answer 5

Constellation of multiple abnormalities

-Ex-Trisomy

Question 6

Trisomy 21

Answer 6

Identification-FISH and karyotyping
-prenatal detection possible
Hallmarks- MOST COMMON age related chromosomal abnormality
Features- Variable levels of mental retardation, single palmar crease

Question 7

Trisomy 18

Answer 7

• Multiorgan system failure, SYNDROME
• Features:Overlapping digits, rocker feet
• Not compatible with life,

Question 8

Features of Omphalocele

Answer 8

• defect at insertion of the umbillical cord
• MUSCLE FAT AND FASCIA absent
• Opening covered with translucent membrane
• MOST HAVE OTHER CONGENITAL ABNORMALITIES

Question 9

Gastroschisis

Answer 9

NO ASSOCIATED CONGENITAL ABNORMALITIES

• Normal umbillical insertion
• wall did not close properly

Question 10

Differences b/w gastoschisis and omphalocele

Answer 10

Gastro-Cord Lateral Omphalo-Cord on top

• no other abnormal -other abnormals
• abdominal wal close fine -missing muscle fascia and fat

Question 11

Fetal Macrosomia

Answer 11

High Birthweight 90% or higher for Gestational Age

Question 12

Post Term

Answer 12

Delivered after 42 weeks

Question 13

Pre Term Baby

Answer 13

Born before 37-38 weeks

Question 14

Diabetic Mothers

Answer 14

often give birth to Macrosomic babies(LGA)

• Often children will have genetic abnormalities
  - Ventricular Septal Defect
• Hypoglycemia a concern in neo-nate

Question 15

SUID

Answer 15

better term than SIDS
-encompasses all sleep related deaths in infants
-usually do to suffocation or strangulation in bed
Definition:death of an infant under 1 that remains unexplained after investigation

Question 16

What are the most common ages of SUIDS deaths?

Answer 16

2-4 months
Etiology still unclear
-SLEEPING ON BACK seems to reduce number of SUIDs cases

Question 17

Potential Explaination for SUIDs

Answer 17

• decreased 5-HT neurons that influence homeostatic mechanisms
• Males have much larger decreases in receptor, more likely for spontanteous stop[age of breathing

Question 18

SUIDS Prevention

Answer 18

1) Breast Feeding
2) Immunization- reduce risk by 50%
3) Cribs-NOTHING BUT BABY in crib

Question 19

Maternal Alcohol Abuse and fetal effects

Answer 19

Intrauterine growth retardation, overlapping toes together

 - common to have drug induced extremity abnormalites
 - Maternal-->smoking, drug alch abuse, HTN, PreEclampsia- small/scrawny villi

Question 20

Prenatal CMV infection

Answer 20

VERY BAD early in pregnancy

• Fetus=small for gestational age
• Transmission:Intrauterine
  - mothers milk from infected mom
  - Resp droplets
• 90% have sequlae
• 25 % of congenital hearing loss is from EBV

Question 21

Viral Infections that affect mom and baby

Answer 21

T-toxoplasmosis
O-Other
R-Rebella
C-cytomegalovirus
H-herpes

Question 22

Placenta

Answer 22

Examined grossly after delivery
-If baby begins to not do well then look at placenta for clues to pre-partum problems(Concerns about moms activity/diseases= ok to search

Question 23

APGAR score

Answer 23

PREDICTOR OF PERINATAL MORTALITY
Measures
1)Heart rate-over 100=2
2)Resp rate-good=2
3)Muscle tone-flexion only=1
4)Nasal stimulus-cough=2
5)Color- Body/not face pink=1

Question 24

APGAR of 0-1

Answer 24

50% mortality risk

Question 25

What newborn screenings are required by all states?

Answer 25

1) Congenital Hypothyroidism | 2) PKU

Question 26

What makes a good screening

Answer 26

1) ID something before clinically identifiable 2) High Sensitivity and Specificity 3) Early treatment available

Question 27

Most common diseases caught by NE newborn screen?

Answer 27

1) Congenital Hypothyroidism 2) Cystic Fibrosis 3) Hearing Screening-1/1000-2000 kids

Question 28

Metabolic Disorder Screening

Answer 28

Done because disorders are 1) treatable early 2) present NON SPECIFICALLY in clinic

Question 29

Diagnostics for Cystic Fibrosis

Answer 29

Sweat Chloride Test 2 times or Molecular Genetics- DELTA F508-most common genotype or Positive screen and characteristic features

Question 30

Cystic Fibrosis

Answer 30

Characteristics: Malnutrition and Steatorrhea | 1/2500 Caucasians, M=F

Question 31

Hirschprungs

Answer 31

Bowel 5x normal size - caused by LACK of GANGLION cells in region of bowel - cause bowel to be stenotic - Usually Rectal localized, Usually presents in first month of life - Associated with Down Syndrome, and other congenital abnormalities

Question 32

Hemangioma

Answer 32

Vascular lesion - comprise 2/3 of all soft tissue tumors in infants and kids - most of the time not a problem unless are pressing on some internal structure

Question 33

Teratomas in kids vs adults

Answer 33

Kids=extra gonadal Adults-Testicular tumors common | no metastasis metastasize regularly

Question 34

Pediatric Cancers

Answer 34

Leukemia=Most common CNS Tumors Lymphomas Wilms Tumor-Kidney Low mortality rate Small Round BLUE Cell Tumors