Chapter 6: The only official pathology in pediatrics we will ever receive despite the fact it's an entire primary discipline (what, no I'm not bitter)

Question 1

How do we diagnosis genetic disorders prenatally?
What are mothers over age 35 at a greater risk for when conceiving?
Why is a family history important in genetic disease?

Answer 1

Amniocentesis and chorionic villus sampling (we also have gene-specific DNA probes for some diseases like Duchennes)
Downs Syndrome
To identify inborn errors of metabolism, heterozygotes carrying disease, or whether an x-linked disorder is present (yielding a fetal sex determination using amniotic cells)

Question 2

Neonatal:
Infancy:
Early childhood:
Late childhood:

Answer 2

first 4 weeks
first year
1-4yrs
5-14yrs

Question 3

Premature=less than 37weeks
Low birth weight is divided into:
What are the risks for each division
Complications of each?

Answer 3

Appropriate for gestational age: maternal illness, uterine incompetence, fetal disorders, placental abnormalities (normally premature babies are this category)
-Severe respiratory distress, metabolic disturbance, circulatory problem, bacterial sepsis

Small for gestational age: impaired maternal health and nutrition, interference of placental circulation/function, disturbed fetal growth (full term but too tiny)
-perinatal asphyxia, meconium, enterocolitis, pulmonary hemorrhage, inherited metabolic disorder

Question 4

Most common organs affected by prematurity?
Explain the pathology behind the most immediate threat.
What about the other two

Answer 4

Lungs Liver and Brain
Lungs do not differentiate type I and II pneumocytes. Results in no pulmonary surfactant and expanding the alveoli is difficult and causes damage. Also, can’t fully expel amniotic fluid–>(SQUAMES=desquamated squamous cells in air passage)
Liver: hepatocytes immature and rapid destruction of fetal erythrocytes–>neonatal jaundice (bilirubin)
Brain: poor vasomotor control, hypothermia, feeding difficulties, recurrent apnea

Question 5

How do we know the lungs are old enough (35 weeks) to survive without any support outside?
What is the best proof of maturity

Answer 5

Lecithin ratio rises to 2:1 compared to sphingomyelin. SP-B ad C are also important components. Phosphatidylglycerol is best proof of maturity

Question 6

What do we use to evaluate the infant at 1 and 5 minutes and which time is to assess ventilation and which is most accurate prediction of impeding death

Answer 6

APGAR
1 min=vent
5 min=death

Question 7

Super long but super important!!
This disease is due to a lack of surfactant and the leading cause of morbidity mortality in premature. Risk factors include asphyxia, maternal diabetes, cesarean, precipitous delivery, and twin pregnancy.
Pathophys?
Pathology?
FiO2 problems?
What can we give mom to increase lung maturity?
What can we give to the baby to improve ventilation?
Major complications due to anoxia and acidosis

Answer 7

Respiratory Distress Syndrome
Surfactant needed to reduce surface tension. Alveoli collapse on exhale on need more effort to reopen. This injures alveoli and causes plasma constituents like FIBRINOGEN AND ALBUMIN to bind surfactant and further limit function.
Leads to hypoxia and induces pulmonary arterial vasoconstriction and right to left shunting through ductus arteriosus.
“Fibrin rish hyaline membrane” and “Ground glass” granularity in terminal stages and fluid filled “white out”–>infants obtunded and flaccid and eventually die of asphyxia.
High FiO2 can actually cause ROS-mediated injury in already ongoing lung injury
Give mom corticosteroids
Give neonate animal derived surfactant
Complications: Intraventricular cerebral hemorrhage, persistent patent ductus arteriosus, necrotizing enterocolitis (C. diffe colonization due to ischemia to gut), bronchopulmonary dysplasia (due to overuse of Pos Pres respirator)
linked gene: ABCA3

Question 8

Hemolytic disease caused by maternal antibodies against fetal erythrocytes?
Most commonly due to?
Will it happen in first pregnancy?
How do we treat?
Common complications?
What ABO blood type can occasionally cause kernicterus and what Ig goes it produce?

Answer 8

Erythroblastosis fetalis
Rh incompatibility (mom is neg, baby is pos): IgG antibodies against the D allele most common
Won’t happen in first pregnancy: mom needs to be sensitized to Rh antibody which is usually only accomplished during delivery of the first Rh+ baby
Treat with RhoGAM (anti-D globulin) within 72 hours of delivery to neutralize antigenic fetal cells
Complications:
Death in Utero
Hydrops fetalis: severe edema due to congestive heart failure caused by severe anemia
Kernicterus/Bilirubin encephalopathy: severe jaundice and bile staining of brain (largely due to unconjugated hyperbilirubinemia that interferes with mitochondria in the brain)
Rx: exchange transfusion and phototherapy to convert toxic unconjugated bilirubin

Blood type A, IgG

Question 9

Name some Cranial injuries and Peripheral nerve injuries. Which are most dangerous

Answer 9

()=Bad outcome
Caput succedaneum, Cephalohematoma, Skull fracture (occipital bone hit venous sinus), *Intracranial hemorrhage–>subdural/subarachnoid hemorrhage (anoxic injury is a common cause)

Brachial palsy (common with neck/head traction), Phrenic nerve paralysis, facial nerve palsy

BE CAREFUL WITH THOSE FORECEPS!

Question 10

Most common bone injured?

Only other internal organ injured aside from brain and lungs? How?

Answer 10

Clavicle (humerus 2nd)

Liver: hepatic rupture may cause hematoma

Question 11

Also known as "crib death" or "cot death," this disease is diagnosed when exam fails to demonstrate an adequate cause of death (ie active infection or homicide).
Most common time period?
How should babies sleep?
Risk factors?
Hypothesis to disease?
Common signs:

Answer 11

Sudden Infant Death Syndrome, Leading cause of death in first year of life
Most common during winter months (high percent have experienced upper respiratory infection within 4 weeks)
Sleep on back
Risk:
Mom:Low SES, African/Native American, Less than 20yrs, CIGARETTE SMOKING, illicit drugs, more kids
Baby: Low weight, premature, Siblings with SIDS, survive other life threatening conditions
Hypo: Cardiac condition syndromes (Long QT, VTach (catecholamines), short QT, Brugada syndrome ); abnormalities in brain, decreased serotonin and muscarinic activity
Common signs: brainstem glosis, petechiae on lungs, heart, pleura, and thymus

Question 12

Cancer is the second leading cause of death between 1-15 other than accidents. What are most common? Most common malignancy?

Answer 12

Hematopoietic, nervous, and soft tissue. Most are part of a complex like WAGR
Most common malignancy: ACUTE LEUKEMIA/LYMPHOMA (Acute lymphoblastic leukemia to be specific)

Note that abnormal or persistant organ primordia are vulnerable to neoplasia

Question 13

Hamartoma:
Choristoma:
Hemangioma:
Lymphangioma:

Answer 13

Hamartoma: normal tissue arrange irregularly
Choristoma: (heterotopia) tiny aggregates of normal tissue in aberrant locations (not true tumor)
Hemangioma: Half present at birth and regress; Port wine stain is congential capillary hemangioma of skin on face and scalp that are dark purple and stay forever
Lymphangioma: (cystic hygroma) swelling present at birth that rapidly increase in size; transparent wall with straw colored fluid
Sacrococcygeal teratoma: rare germ cell tumor, more in girls, lareg lobulated tumor near sacrum or buttocks (most tissue of neural origin)