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Mechanisms of Disease Exam #2 > Diseases of Infancy and Childhood > Flashcards

Diseases of Infancy and Childhood Flashcards

1
Q

Malformation definition:

A

Malformations represent primary errors of morphogenesis.

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2
Q

Disruptions definition:

Ex:

Are they inheritable?

A

Result from secondary destruction of an organ or body region that was previously normal in development.

Amnion wraps around fetus’s extremities.

They are not inheritable.

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3
Q

Deformation definition:

A

Localized or generalized compression of growing fetus by abnormal biomechanical forces.
“Uterine constraint”.

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4
Q

What is the Potter sequence?

A

A sequence that leads to a cascade of anomalies triggered by one irritating aberration.

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5
Q

What is the pathway of the pathogenesis of oligohydramnios and the Potter sequence?

A

Renal agenesis, amniotic leak, others can cause hydramnios.
The hydramnios leads to fetal compression which can cause pulmonary hypoplasia, altered facies, strange positioning of the hands and feet and a breeched presentation.

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6
Q

What can lead to pulmonary hypoplasia? (2)

A

Oligohydramnios and fetal compression

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7
Q

What are amnion nodosum?

A

Caused by oligohydramnios and appear as which spots on the amnion.

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8
Q

Agensis

A

Failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue.

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9
Q

Aplasia

A

A birth defect, where an organ, or a tissue, is absent, or defective.

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10
Q

Atresia

A

Absence or abnormal narrowing of an opening or passage in the body.

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11
Q

Symptoms/presentations of children with FAS

A 
Pre and post natal growth retardation
Facial anomalies 
Psychomotor disturbances
Microcephaly
Low weight
Hyperactivity
Learning disabilities
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12
Q

What is the timeline of the embryonic period?

A

Weeks 3-8

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13
Q

Extremely preterm:

Very preterm:

Moderate to late preterm:

A

Extremely preterm: <28 wks

Very preterm: 28-32 wks

Moderate to late preterm: 32-37 wks

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14
Q

Risks for prematurity (4)

A

Preterm premature rupture of the membranes (PPROM)
Intrauterine infection
Uterus/cervix/placental abnormalities
Multiple gestation

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15
Q

Hyaline membrane disease is AKA:

A

Respiratory distress syndrome (RDS)

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16
Q

What are 3 associations with RDS?

A

Males
Maternal diabetes
C-section

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17
Q

Often resuscitation is needed for babies with RDS.

Post resuscitation, what do the babies do?

A

Breathing is labored and they can become cyanotic .
Rales are evident in BL lung fields.
CXR will show a ground-glass picture.

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18
Q

Main cause of RDS is deficiency of:

A

Pulmonary surfactant

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19
Q

What genes cause deficiency of surfactant?

A

SFTPB and SFTBC

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20
Q

At which phase of lung development, and which week, does surfactant begin to form?

What part of the lung must be produced before surfactant is produced?

A

Saccular phase
Wk 25 approx.

Alveolar ducts.

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21
Q

What is necrotizing enterocolitis?

A

An condition that occurs in very low birth weight babies most often. It is likely caused by infection, but it hasn’t been pin-pointed to one pathogen.

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22
Q

Which mediator is known to increase mucosal permeability and is associated with necrotizing enterocolitis?

A

PAF

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23
Q

What is the clinical course of NEC?

What do XRs show?

A

Bloody stools, abdominal distension and circulatory collapse.

Gas within the intestinal wall (pneumatosis intestinalis).

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24
Q

Retrolental fibroplasia is associated with:

A

VEGF

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25
Q

Bronchopulmonary dysplasia leads to activation of which proinflammatory cytokines? (4)

What do these cytokines cause?

A

TNF, IL-1b, IL-6, IL-8.

Arrest of alveolar development.

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26
Q

What is the treatment for BPD?

A

Surfactant and steroids

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27
Q

NEC involves which parts of the colon?

How does it look?

What kind of necrosis can occur?

A

Terminal ileum, cecum and right colon.

Distended, friable and congested.

Gangrenous, and coagulative microscopically.

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28
Q

What is the most common diagnostic sign in patients with NEC?

A

Pneumatosis intestinalis

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29
Q

What virus is associated with perinatal infection?

A

Parvovirus B19

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30
Q

What symptoms are involved in TORCH infections?

A 
Fever
Encephalitis
Chorioretinitis
Hepatosplenomegaly
Pneumonitis
Myocarditis
Hemolytic anemia
Hemorrhagic skin lesions
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31
Q

What is fetal hydrops?

A

Accumulation of edema in 2 or more fetal compartments during intrauterine growth (pleural, peritoneal, ascites, skin, etc).
Non-immune.

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32
Q

What is cystic hygroma?

A

Localized accumulation of fluid in a fetus.
Seen in Turner’s syndrome.
Non-immune.

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33
Q

Immune hydrops

A

Disease caused by blood group Ag incompatibility between mom and fetus

34
Q

How does immune hydrops occur?

A

When baby’s RBC antigenic determinants (Rh) are from the father and foreign to the mother, the mom has an immune reaction.

35
Q

When does the immune hydrops reaction occur?

In what gentoypic mother and father?

A

The second and subsequent pregnancies.

Mom is Rh- and Dad is Rh+ -> baby is Rh+.

36
Q

What can happen to the baby as a result of removal and destruction of the RBC-Ab complex in immune hydrops in the baby? (4)

A

Anemia
Hydrops
*Extramedullary hematopoiesis - seen in histology
Bilirubin -> jaundice and kernicterus

37
Q

Non-immune hydrops have which 3 major eitiologies?

A
  1. CV defects: structural and functional anomalies.
  2. Chromosomal anomalies: 45X, trisomy 21 and 18.
  3. Fetal anemia (not Rh or ABO): alpha thalassemia, transplacental parvo B19 and twin-twin transfusion.
38
Q

What kind of abnormalities suggest inborn errors of metabolism?

A 
Dysmorphic featurs
Deafness
Self-mutilation
Hydrops
Abnormal body or urine odor
Hypo/hypertonia
Seizures
Poor feeding
Vomiting
Jaundice
Cataracts
Red macula
Myopathy
Joint stiffness
39
Q

How does CF lead to a salty baby?

A

The Cl- cannot enter the epithelial cells of sweat ducts, so it can go back out to the skin.

40
Q

In all variants of CF, what is unaffected?

A

Sweat glands

41
Q

What is virtually always present in a patient with CF?

A

Pancreatic insufficiency

42
Q

Atrophy of what part of the pancreas occurs in the pancreas?

What does it impair?

What associated deficiency may contribute to squamous metaplasia?

A

Exocrine portion

Impairs fat absorption.

Vit A

43
Q

What 3 bugs are the most common cause of lung infections?

What is the most common bug in CF?

A

Staph aureas
Haemophilis influenzae
Pseudomonas aeruginosa

B. cenocepacia

44
Q

SIDS is a diagnosis of:

A

Exclusion and always warrants an autopsy

45
Q

Pathogenesis of SIDS requires what 3 things?

A
  1. Vulnerable infant
  2. Critical developmental period in homeostatic control
  3. An exogenous stressor
46
Q

What can develop on organs post mortem?

On which organs?

A

Petechiae

Lungs, thymus, heart

47
Q

Heterotopia (choristoma)

A

Normal cells in an abnormal location

48
Q

Hamartoma

A

Excessive focal overgrowth of tissue native to that organ

49
Q

What is the most common tumor of infancy?

Do they go away?

A

Capillary hemangiomas, portal wine stain

Yes oftentimes they do

50
Q

Benign lymphatic tumors in kids (2)

A

Lymphangioma

Lymphangiectasia

51
Q

Benign fibrous tumors in kids (1)

A

Can look like fibrosarcoma in adults, but do better

52
Q

What is the most common teratoma in kids?

M/F more likely to get it?

A

Sacrococcygeal teratoma

F>M, 4:1

53
Q

Malignancies of non-hematopoietic pediatric neoplasms are unique because (include the morphology):

What are they called?

A

They have an embryonic, undifferentiated appearance, characterized by sheets of cells with small, round nuclei and show features of organogenesis.

Blastomas

54
Q

What is the most common extracranial tumor of childhood?

What is the median age of diagnosis?

A

Neuroblastoma

18 mo

55
Q

Clinical presentation of a child with Neuroblastoma

A

<2 y/o w/ large abdominal mass, fever and weight loss.

Cutaneous mets -> blueberry muffin baby.

> 2 y/o may present w/ mets (blood and lymphatic)
Periorbital region is a common site of metastasis.

56
Q

What is the most important diagnostic feature of neuroblastomas?

How do you test this? (3)

A

High production of catecholamines.

Check catecholamines in blood and VMA and HVA in urine.

57
Q

What are Homer-Wright pseudorosettes?

A

Appear in neuroblastoma where differentiated cells surround neuropil.

58
Q

Favorable and non-favorable levels of mitosis-karyorrhexis index for prognosis of neuroblastoma:

A

Favorable: <200/5000 cells
Nonfavorable: >200/5000 cells

59
Q

Is it favorable or nonfavorable to have evidence of schwannian stroma and gangliocytic differentiation present?

A

Yes, favorable

60
Q

What is chromothripsis?

A

Extensive genomic rearrangements and an oscillating pattern of DNA copy levels, usually restricted to one or a few chromosomes.

Found in aggressive neuroblastomas.

61
Q

Wilms tumor presentation:

What is often present at the time of DX?

A

Large abdominal mass
Hematuria
Intestinal obstruction
HTN appearance

Pulmonary mets.

62
Q

Morphology of Wilms tumor

A

Large well-circumscribed mass (10% BL)
Cut surface is soft, homogenous and tan-gray
Can have necrosis, cyst formation or hemorrhage.

63
Q

The vast majority of WIlms tumors contain a classic triphasic combo (on histology) of:

A

Blastemal cells
Stromal cells
Epithelial cell types

64
Q

3 recognizable groups associated with distinct chromosomal loci associated w/ a Wilms tumor:

A
  1. WAG/WAGI syndrome
  2. Denys-Drash syndrome
  3. Beckwith-Wiedeman syndrome
65
Q 
WAG/WAGI syndrome
Risk level:
Deletion of which gene?
WAGR acronym:
WT1
PAX6

What is the first hit? Second hit?

A

33% risk.
Deletion of 11p13.
Wilms tumor, aniridia, genital abnormalities, MR.
WT1: Wilms tumor associated gene
PAX6: provides instructions for making a protein that is involved in early development of the eyes, spinal cord and pancreas.

First hit is deletion of WT1 and second hit is a frameshift or nonsense mutation in second allele.

66
Q

Denys-Drash syndrome
Risk level:
Presentations (2):
Increased risk of?

A 
90% risk.
Gonadal dysgenesis (male pseudohermaphrodism) and renal failure.
Increased risk for gonadoblastoma.
67
Q

Beckwith-Wiedeman syndrome sx (5)

What is it an example of?

What is often mutated in this syndrome?

Increased risk of? (4)

A

Organomegaly, macroglossia, hemihypertrophy, omphocele, adrenal cytomegaly.

Genomic imprinting.

CDKN1C mutation - a cell cycle regulator (p57) that broadly inhibits CDKs.

Increased risk for hepatoblastoma, pancreatoblastoma, adrenal cortical tumors, rhabdomyosarcoma.

68
Q

3 major categories of congenital anomalies

A

Genetic
Environmental
Multifactorial

69
Q

What abnormalities can cause SGA and lead to FGR?

A

Fetal abnormalities
Placental abnormalities
Maternal abnormalities

70
Q

What are the two big complications of RDS and their pathophysiology?

A

Retrolental fibroplasia: retinopathy of prematurity due to decreased VEGF in the eyes.
Bronchopulmonary dysplasia: due to increased IL-1B, -6, -8.

71
Q

Infants who recover from RDS are at an increased risk for? (3)

A

PDA
Intraventricular hemorrhage
Necrotizing enterocolitis

72
Q

What is the affect of PAF on NEC?

A

It increases mucosal permeability by promoting enterocyte apoptosis and compromising tight junctions —> inflammation, mucosal necrosis, bacterial infiltration —> sepsis and shock.

73
Q

Minimally affected children with nonimmune hydrops will display:

Severely affected children?

A

Minimally affected will display pallor and hepatosplenomegaly.

Severely affected will present with jaundice, edema and signs of neurological damage.

74
Q

What are the two primary routes for perinatal infection?

A

Transcervically and transplacentally

75
Q

Galactosemia is a deficiency in:

Presentation:

A

GALT leadingto accumulation of galactose-1-phosphate.

Hepatomegaly, opacification of lens, nonspecific CNS problems, failure to thrive, vomiting, diarrhea, jaundice.

76
Q

Morphological features of SIDS

A

Petechiae
Extramedullary hematopoiesis
CNS astrogliosis of brain and cerebellum

77
Q

Benign tumors of childhood (4)

A

Hemangiomas
Lymphatic tumors - lymphangiomas, lymphangiectasis
Fibrous tumors
Teratomas

78
Q

Where majority of neuroblastomas arise?

A

Adrenal medulla

79
Q

Synchronous vs. metachronous

A

Synchronous means both organs affected at same time. Metachronous means both organs affected in succession.

80
Q

Incidence of Wilms tumors

A

1/10k

4th most common pediatric tumor in USA.

81
Q

What are nephrogenic rests?

A

Lesions that are precursors to Wilms tumors.

Seen in approx 25-40% of UL tumors and almost 100% of BL tumors.

Mechanisms of Disease Exam #2 (10 decks)

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