Developmental Pathology Flashcards

1
Q

Symmetric IUGR
Causes
Timing of diagnosis
How common?

A

Caused by fetal factors: chromosomal defects, infection.
Diagnosed earlier
Less common than asymmetric.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Asymmetric IUGR
Causes
Timing of diagnosis
How common?

A

Due to placental / maternal factors: uteroplacental insufficiency, abnormal cord, placenta previa (covers cervical os) / abruption (clot), pre-eclampsia (HTN, proteinuria, edema), eclampsia (add CNS sxs), chronic HTN, drugs, alcohol, smoking, diabetes.
Diagnosed later
More common than symmetric IUGR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Potter sequence
Causes
Characteristics

A

Oligohydramnios from renal agenesis, urethral obstruction, or amniotic fluid leakage → pulmonary hypoplasia, flat face, varus (deformation), amnion nodosum (squamous metaplasia of amnion)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Deformation
Causes
Examples

A

Caused by mechanical forces / pressure during phenogenesis, such as oligohydramnios, malformed uterus, leiomyomata, or impaired CNS w/ fetal mobility problems.
Ex: varus, valgus, clubfoot (talipes equinovarus / equinovalgus)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Disruption

A

Teratogens. Occur during organogenesis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

TORCHS

When is risk highest?

A

Toxoplasma, Others (HIV, Influenza, Varicella) Rubella, Cytomegalovirus, Herpes, Syphilis
1st trimester during organogenesis is highest risk.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Congenital Toxoplasma
Problems
Timing of transmission

A
  • Periventricular calcifications and chorioretinitis.

* More transmissible later in gestation, but most severe early

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Congenital Rubella
Triad / Tetrad
Timing of transmission

A
  • Rubella triad (tetrad): cataracts, PDA, deafness via CN VIII damage, (MR / microcephaly)
  • Easier transmission early (opposite toxo). Highest risk during organogenesis.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Congenital Herpes

Limited vs Disseminated

A
  • Limited / External → SEM disease: skin, eyes, mucous membranes
  • Disseminated → liver failure / hepatic necrosis, brain. Often fatal.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Congenital Cytomegalovirus
Timing of infection
Problems (4)
Characteristics (2)

A
  • Primary maternal infection in 2nd trimester causes MR, microcephaly, deafness, hepatospenomegaly
  • Characterized by chronic villitis (lymphocytes in placenta) and viral intranuclear inclusions (Owl Eyes)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Congenital Syphilis
Early (infantile) vs Late (tardive)
Timing

A
  • Early (Infantile)
  • Manifests in first 2 years of life.
  • “Snuffles” = nasal congestion w/ ulcers
  • Bullous skin rash
  • Hepatomegaly (fibrosis)
  • Skeletal abnormalities – saddle nose, saber shins (outward boning of proximal tibia)
  • Late (Tardive)
  • Manifests after 2 years
  • Hutchinson Triad: notched central incisors, interstitial keratitis (blindness), deafness
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What is the Hutchinson triad?

A

Occurs in late / tardive syphilis

Notched central incisors, interstitial keratitis (blindness), deafness

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

What does hyperthermia cause (hot tub)?

A

Anencepaly

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Thalidomide

A

Thalidomide – limb defects (meromelia / amelia) via down-regulation of Wingless (WNT) signaling. Lenalidomide is derivative used for CLL w/ similar effects.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Warfarin (3)

A

Warfarin – clitoral hypertrophy, labial fusion, MR

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Valproic acid (3)

A

Valproic acid – affects limb, vertebral, and craniofacial development via disruption of homeobox (HOX) TF proteins.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

1,3-cis retinoid acid (3)

A

1,3-cis retinoic acid (acutane for acne) – cleft lip / palate, CNS, and cardiac defects via TGFb signaling.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Alcohol (3)

A
  • Alcohol – growth retardation, facial anomalies, CNS dysfunction
  • Fetal Alcohol Syndrome is a more severe form of Fetal Alcohol Spectrum Disorder.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Maternal diabetes (6)

A

LGA (due to high insulin) and hypoglycemia. Large size increases risk for birth injury. Also associated w/ heart defects, spina bifida, and other CNS malformations.

20
Q

Radiation (5)

A

Microcephaly, blindness, skull defects, spin bifida, cleft palate

21
Q

Kleinfelter Syndrome

A

47, XXY, male

22
Q

Turner Syndrome

A

45, X, female

23
Q

Down Syndrome (6)

A

AV septal defect, epicanthic folds, simian crease, macroglossia, leukemias, dementia (amyloid precursor is upregulated → neurofibrillary tangles / plaques)

24
Q

Patau Syndrome (3)

A

Trisomy 13 – 3 p’s: polydactyly, palate (facial clefts), puny eyes (microphthalmia)

25
Edwards Syndrome (2)
Trisomy 18 – micrognathia (small jaw) and overlapping fingers
26
Causes of hydrostatic and oncotic edema in hydrops
Cardiac ischemia / heart failure (anasarca) causes hydrostatic. Ischemic dysfunction of liver → poor protein production (oncotic).
27
3 causes of non-immune hydrops
* CV defects (heart failure) * Turner Syndrome (45X) * Non-immune fetal anemia (parvovirus B19 / hemoglobinopathy)
28
3 names for Parvovirus B19 in kids
Slapped cheek / 5th disease / erythema infectiosum. Tropism for RBC precursors in marrow.
29
Complications of non-immune fetal anemia
Jaundice / kernicterus due to Hb breakdown
30
Cystic Hygroma / Posterior Cervical Hygroma
Fluid accumulation in lymphatics of posterior neck caused by structural defects. Basically a localized form of hydrops.
31
Prune bell Cause Population Characteristics (5)
Caused by urethral obstruction More common in males Thin / absent abdominal muscles due to distention Dilated bladder / ureters and hydronephrosis Renal dysplasia due to back-pressure Cryptoorchidism Hypoplastic prostate
32
What causes conjectures / pterygium?
Oligohydamnios
33
Causes of polyhydramnios
Esophageal atresia / obstruction or CNS dysfunction preventing swallowing
34
2 manifestations of single umbilical artery (SUA)
Growth retardation and CV defects
35
Ascending (bacterial) infections Pathophysiology Bacteria Hallmark of ascending infection
* Ascending (bacterial) infections → chorioamnionitis → PPROM (not IUGR). * Bacteria that cause PROM / PPROM are usually STD bugs (Chalmydia, mycoplasma, Trichomonas), rather than those that cause meningitis (Listeria, E coli, Group B strep) * Hallmark is Chorioamnionitis = acute inflammation of fetal membranes due to MATERNAL PMNs. PPROM occurs due to inflammation, cytokines, and endogenous binding of TLRs to bacterial components → disruption of prostaglandins.
36
Characteristics of infected amniotic fluid Which bugs? Complications (3)
* Infected amniotic fluid = acute inflammation of umbilical cord w/ FETAL PMNs. * Vasculitis / funisitis = fetal PMNs marginating in cord * Organisms include gram negs and group B strep * Fetal / neonatal infections may include pneumonia, meningitis, and sepsis
37
Transplacental / hematologic infections Causes General effect on fetus Hallmark of transplacental infection
TORCHS. Usually viral (parvovirus, CMV). May be parasitic (toxo) or bacterial (Listeria / syphilis). Causes IUGR and stillbirth Hallmark is chronic villitis or villitis of unknown etiology (VUE; most likely autoimmune)
38
Congenital Parvovirus B19 Site of replication Problems Histology
* Replicates in erythroid precursor cells. * Reduced RBCs → anemia → hydrops / extramedullary hematopoiesis (EMH). No hemolytic disease of newborn b/c it prevents RBC production from the start * Histology - Large cells in bone marrow. Homogenation of chromatin (ground glass) w/ margination of chromatin and nuclear enlargement.
39
Early vs late perinatal sepsis. Which bugs? | 3 most common causes of neonatal sepsis and morphology
* Early onset (1st week of life) – E coli, group B strep * Late onset (>1 week after birth) – Listeria, Candida * LEG = 3 most common causes of neonatal sepsis * Listeria = gram positive rod * E coli = gram neg rod * Group B strep = gram positive coccus
40
What is considered premature delivery? | What is limit of viability?
Less than 37 weeks | Limit: 22-23 weeks
41
What causes PROM / PPROM?
Ascending infections
42
``` Problems that occur w/ PPROM Brain (3) GI (1) Heart (1) Liver (1) Lungs ```
* Brain –germinal matrix (near ventricles, make new neurons) / intraventricular hemorrhage may cause increased intracranial pressure and herniation of medulla → death. Also associated w/ cerebral palsy. May have problems w/ homeostasis, including temperature, blood glucose, and vasomotor tone. * GI = necrotizing enterocolitis – dead small bowel due to infection. Poor immune response to infection. Surgical resection is necessary. * Heart – PDA * Liver – physiologic jaundice may lead to kernicterus * Lungs - Hyaline membrane disease / Respiratory distress syndrome. Also pneumonia. Complication includes bronchopulmonary dysplasia.
43
``` Hyaline membrane disease / neonatal Respiratory Distress Syndrome (RDS) Pathophysiology Histology Difference from DAD Timing of onset Treatment ```
•Alveolar atelectasis → hypoxemia → CO2 retention / acidosis → poor pulmonary perfusion → endothelial damage → leakage of plasma / fibrin → hyaline membranes (made of fibrin, fibrinogen, and cell debris) •Necrotic cellular debris early and eosinophilic hyaline membranes later. •DAD does not cause atelectasis •Occurs hours after birth (NOT in utero). TREATMENT •Glucocorticoid steroids are given to mom prior to impending premature delivery to induce surfactant synthesis •Baby requires assisted ventilation w/ high O2 levels. Give prophylactic exogenous surfactant.
44
Complication of hyaline membrane disease Cause Characteristics
* Chronic bronchopulmonary dysplasia * Caused by long-term O2 / ventilator dependence (>28 days). May involve oxygen toxicity and barotrauma from ventilator. * Characterized by epithelial hyperplasia, interstitial fibrosis, alveolar wall thickening, and reduced number of airspaces (alveolar hypoplasia)
45
Retinopathy of prematurity (aka retrolental fibroplasia) Association Cause
Associated w/ PPROM | Caused by VEGF-mediated retinal neovascularization