Pediatric Path Flashcards

1
Q

Neonates

A

First 4 weeks

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2
Q

Infants

A

First year

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3
Q

Toddler

A

1-3 years

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4
Q

Preschool age

A

3-6 years

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5
Q

School age

A

6-12 years

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6
Q

Adolescent

A

10-19 years

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7
Q

What are birth injuries?

A

Spectrum of mechanical trauma to anoxic damage during birth

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8
Q

Predisposing factors for Birth Injuries

A
  1. Cephalopelvic disproportion (CPD)- Head of baby is too big or Mother’s pelvic is too small
  2. Difficult labor/ Breech presentation - Head of baby is not the first presenting part
  3. Prematurity - Before 32 weeks of gestation
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9
Q

Common Birth Injuries

A

Cranial
- caput succedaneum
- cephalohematoma
- skull fractures
- intracranial hemorrhage

Peripheral nerve injuries
- brachial palsy
- facial nerve palsy

Fractures
- clavicle
- humerus

  • Rupture of liver
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10
Q

Congenital Anomalies

A

Morphological defects that are present at birth

NB: Some may present clinically years later

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11
Q

Etiology of Congenital Anomalies

A

1.Genetic
- Chromosomal aberration
- Genetic mutations
2. Environmental
- Maternal or placental infections
- Maternal disease
- Drugs & chemicals
- Irradiation
3. Multifactorial
- Combination of genetic & environmental

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12
Q

Pathogenesis of Congenital Anomalies

A

Embryonic Period - Up to week 9
Week 3
1. Injury will kill all cells –> Death
2. Injury kills some cells –> Recovery w/o defects
Week 4-9
3. Extreme susceptibility to teratogenesis (4-5 wks.) - time of organ formation from germ cell layers

Fetal period - After week 9
1. Injury/ growth restriction to already formed organs
- Reduced teratogenesis susceptibility

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13
Q

Intrauterine Growth Retardation (IGR)

A
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14
Q

Effects of Thalidomide

A

Limb malformations (Phocomelia)

Drug banned; but was used as an antiemetic to treat severe morning sickness

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15
Q

Effects of Alcohol in pregnancy on baby

A

Fetal Alcohol Syndrome
- Growth restrictions (pre & post-natal)
- Facial anomalies –> Microcephaly, Short palpebral fissures & Maxillary hypoplasia
- Psychomotor dysfunction - unable to meet milestones

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16
Q

Effects of Nicotine use during pregnancy

A
  1. Spontaneous abortion
  2. Premature labor
  3. Placental abnormalities
  4. Low birth weight
  5. Sudden Infant Death Syndrome (SIDS)

Catecholamine release –> Vasoconstriction –> Dec blood flow to placenta

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17
Q

Effects of Maternal Diabetes on babies

A

Fetal Hyperinsulinemia –> Fetal Macrosomia
- Organomegaly
- Inc body fat & muscle
- Hypoxia & Malnourished bc blood supply cant meet needs

Diabetic Embryopathy
- Cardiac defects
- Neural tube defects - Spinal bifida, etc
- CNS malformation

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18
Q

Down Syndrome Etiology

A
  • Trisomy 21 –> Meiotic non-disjunction –> extra Chr 21 in every cell
  • MC chromosomal disorder
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19
Q

RFs of Down Syndrome

A
  • Inc Maternal age –> Inc risk of non-disjunction
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20
Q

CFs of Down Syndrome

A
  1. Severe intellectual disability
  2. Flat face & Present Epicanthic folds
  3. Abundant neck skin
  4. Simian crease
  5. Cardiac malformations - AVSD (VSD more common)
  6. Duodenal & Esophageal atresia/ stenosis
  7. Hypotonia
  8. Gap between 1st & 2nd toe
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21
Q

What does Down syndrome Pre-dispose to?

A
  • Acute leukemias - ALL, AML (M7 most commonly)
  • Infections
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22
Q

Etiology of Turner Syndrome

A
  • 45X Karyotype –> Partial/complete monosomy of genes of the short arm of X chromosome
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23
Q

CFs of Turner Syndrome

A
  1. Short stature
  2. Webbed neck
  3. cubitus valgus
  4. CVS malformations - Aorta coarctation, Bicuspid Aortic valve
  5. Horseshoe kidney
  6. Amenorrhea & Infertility
  7. Lacks sexual characteristics
  8. Fibrotic/ “Streak” ovaries
  9. Low posterior hairline
  10. Peripheral lymphedema @ birth
  11. Broad chest w/ widely spaced nipples
  12. Pigmented nevi
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24
Q

Errors in Morphogenesis

A
  1. Malformation
  2. Disruption
  3. Deformation
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25
Q

Malformation

A

INTRINSIC defect –> Poor localized development
- Child normal other than defect
- Genetic or Chromosomal or Multifactorial

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26
Q

Types of Malformations

A
  1. Polydactyly - 1 or more digits
  2. Syndactyly - Fusion of digits
  3. Cleft lip & palate - Trisomy 13
  4. Congenital Heart defects - ASD
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27
Q

Disruption

A

EXTRINSIC
Secondary destruction of an organ/ body region that was previously normal in development

Rupture of amnion w/ amniotic bands (Chorion is still intact) –> Encircle/ compress/ attach to parts of fetus –> Dec blood supply –> Ischemia/ necrosis

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28
Q

Deformation

A

EXTRINSIC
localized or generalized compression of growing fetus by abnormal biomechanical forces –> Structural abnormalities

  • Eg. = Uterine constraint (MC) –> As baby grows and the amnionic decreases, there is less cushioning
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29
Q

Maternal causes of Deformities

A
  • 1st pregnancy
  • Malformed or small uterus - Generalize compression
  • Leiomyomas/ Fibroids
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30
Q

Fetal/placental causes of Deformities

A
  • Oligohydramnios
  • Multiple fetuses
  • Abnormal/ breech presentation
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31
Q

Sequence

A

Cascade of anomalies ff an initiating aberration
- Malformation/ Disruption/ Deformities –> Secondary effects in other organs

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32
Q

Example of Sequence

A

Oligohydramnios Potter Syndrome

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33
Q

Pathogenesis of Oligohydramnios Potter’s Syndrome

A

Maternal HTN –> Uteroplacental insufficiency , Renal agenesis & Urinary tract obstruction
- Dec amniotic –> Less protection/ Inc pressure

34
Q

CFs of Potter’s Syndrome

A
  1. Short/ small
  2. Hypoplastic lungs (Dec proline)- COD
  3. Dislocated hips
  4. Flat facial features
  5. Deformed feet
35
Q

Malformation Syndrome

A

Presence of >1 developmental anomalies of >2 systems due o a common etiology (viral infection, chromosomal anomalies affecting affecting multiple tissues)

N: Simultaneous involvement of different tissues rather than sequential as w/ sequence

36
Q

Klinefelter Syndrome

A

Male hypogonadism in the presence of at least 2 X chromosomes & 1+ Y chromosome

  • MC cause o male hypogonadism
37
Q

Etiology of Klinefelter Syndrome

A

Non-disjunction of Sex chromosomes during MEIOSIS

38
Q

Karyotypes of Klinefelter Syndrome

A
  1. 47XXY - Most common
  2. 48XXXY
  3. Any other combination w/ 2+ X-chromosome & 1+ Y-chromosome
39
Q

CFs o Klinefelter Syndrome

A
  • Testicular atrophy & Sterility
  • Dec body hair
  • Gynecomastia
  • Eunuchoid body habitus
  • Narrow shoulders
  • Long legs
  • Wide hips
  • Female-type pubic hair pattern
40
Q

What diseases can Klinefelter Syndrome predispose pts. to?

A
  1. Breast cancer
  2. Extragonadal germ cell tumors
  3. Autoimmune disease
41
Q

22q11.2 Deletion Syndrome

A

Malformations affecting the face, heart, thymus & parathyroid glands due to deletion of 22q11.2

42
Q

Diagnosis of 22q11.2 deletion

A

FISH

43
Q

Syndromes that can arise due to 22q11.2 deletion

A
  1. Di George Syndrome
    - Thymic hypoplasia- Impaired T-cell immunity
    - Parathyroid hypoplasia - Hypocalcemia
    - Psychosis - Schizophrenia / Bi-polar
  2. Velocardiofacial Syndrome
    - Congenital heart disease of Outflow tracts
    - Palatal abnormalities/ Facial dysmorphism
    - Developmental delay
    - Psychosis
44
Q

Appropriate for gestational age (AGA)

A

Birth weight b/w 10th - 90th percentile for GA

45
Q

Small for gestational age (SGA)

A

Birth weight < 10th percentile for GA
- Indicator of fetal growth restriction
- Marker for

46
Q

Large for gestational age (LGA)

A

Birth weight > 90th percentile for GA
- Indicator of Inc fetal growth eg. Gestational diabetes
- Associated w/ birth injuries

47
Q

Prematurity

A

<37 weeks of gestation

48
Q

Low Birth weight

A

< 2500 gm @ birth

49
Q

Causes of Low Birth Weight

A
  1. Prematurity
    - Preterm Premature rupture of membrane (ROM) - Rupture before Labor pain
    - Intrauterine infections - Toxoplasma, Rubella,
    - Structural abnormalities of uterus, cervix or placenta
    - Multiple gestations
  2. Fetal growth restrictions
    - Term infants < 2500 gm (undergrown NOT immature)
50
Q

Fetal causes of Prematurity & Low Birth weight

A
  1. Chromosomal disorders eg. Trisomies
  2. Congenital malformations
  3. Congenital infections - TORCH
  • Usually symmetric restriction - The size of all organs are reduced but formed equally
51
Q

Placental Prematurity & Low Birth weight

A
  1. Placental previa - Covers cervical os
    - Indication of Early ROM
  2. Placenta abruption
    - Trauma, accident, hit
    - Extremely painful - Blood supply is cut off
  3. Placental infarction
    - No blood supply, nutrition or oxygen
    -
52
Q

Maternal causes of Prematurity & Low Birth weight

A
  1. Dec placenta blood flow
  2. Toxemia or pregnancy - Proteinuria & HTN that develops in 2nd trimester in pt. that had normal HTN before
  3. Chronic HTN - Prevents blood flow o placenta
  4. Alcoholism, narcotic abuse or smoking - Vasoconstriction & Dec blood flow
  5. Drugs: Phenytoin (Dilantin) - Dec Blood flow to placenta
  6. Malnutrition - Prolonged Hypoglycemia
53
Q

APGAR Score

A
  • Determines chances of newborn survival by assessing physiologic condition & responsiveness
  • Evaluated @ 1 (How baby tolerated birthing process) & 5 (how baby is adapting to new environment) minutes after birth
  • Max score = 10
54
Q

APGAR “A” Category & Scoring

A
  1. Appearance
    - Blue = 0
    - Pink body & Blue extremities = 1
    - Pink = 2
55
Q

APGAR “P” Category & Scoring

A
  1. Pulse “Heat Rate”
    - Absent = 0
    - <100 = 1
    - > 100 = 2
56
Q

APGAR “G” Category & Scoring

A
  1. Grimace “ Response to catheter in throat”
    - None = 0
    - Grimace = 1
    - Cough or sneeze = 2
57
Q

APGAR “A”2 Category & Scoring

A
  1. Activity “Muscle one”
    - Limp = 0
    - Some flexion = 1
    - Active motion = 2
58
Q

APGAR “R” Category & Scoring

A
  1. Respiratory effort
    - Absent = 0
    - Slow & irregular = 1
    - Good & crying = 2
59
Q

Complications of Prermaturity

A
  1. Hyaline Membrane Disease
  2. Necrotizing Enterocolitis
60
Q

Respiratory Distress Syndrome

A

AKA: Hyaline Membrace Disease

61
Q

RFs of RDS

A
  • Prematurity
  • Perinatal asphyxia
  • Maternal Diabetes
  • C-section before labor onset
  • Twin gestation
  • Male sex
62
Q

Pathogenesis of RDS

A
63
Q

Surfactant

A
  • Dec surface tension –> Open alveolar
  • Production @ week 35 - 36
64
Q

CFs of RDS

A
  • Normal @ birth (usually)
  • Labored, grunting respirations that progressively worsens (mins to hours)
65
Q

Gross pathology of RDS

A

LUNGS
- Normal size
- Solid, airless & Red-purple color (Looks like liver)

66
Q

Radiologic features o RDS

A

“Ground glass lungs”

67
Q

Microscopic features of RDS

A

Eosinophilic thick hyaline membrane lining the dilated alveoli
Several hours
- Necrotic cellula debris in terminal brochioles & alveolar ducts
12-24 hours
- Smooth homogenous pink membranes lining terminal & respiratory bronchioles & alveolar ducts
- Membranes composed of necrotic alveolar Type 2
- Minimal Neutrophillic inflammatory reaction
Several days
-

68
Q

Prevention of RDS

A
  1. Delay labor so lungs can mature
    - Give steroids to enhance lung development & surfactant production
  2. Evaluate Amniotic fluid phospholipids
    - Good estimate of fetal surfactant levels

After birth
1. Oxygen
2. Surfactant replacement Therapy

69
Q

Complications of RDS

A
  1. Retrolental fibroplasia (Retinopathy of Prematurity)
    - Oxygen toxicity
  2. Bronchopulmonary dysplasia
    - Dec alveolar septation –> Large simplified alveolar structure & dysmorphic capillary configuration

Due to high conc of Ventilator-administered Oxygen for prolonged periods

70
Q

Neonatal Necrotizing Enterocolitis (NEC)

A

Affects premature infants & term infants of low birth weight

71
Q

Etiology of NEC

A

Multifactorial
- 25-50% mortality
-Occurs in 2nd - 3rd week of life

72
Q

Predisposing factors for NES

A
  • Intestinal ischemia
  • Bacterial colonization of gut
  • Formula feeding
73
Q

CFs of NEC

A

Presents in week 2-3 of life
- Signs of intestinal obstruction after oral feeding in preterm infants w/ a Hx of Asphyxia
- Abdomen distention - Bacterial fermentation
- Bloody stools
- Shock
- DIC –> Death

74
Q

Diagnosis of NEC

A
  1. Abdominal radiograph - Dilated loops of bowels
  2. Pneumatosis intestinalis - Gas w/i intestinal wall
75
Q

Pathological features of NEC

A
  • Distended bowel w/ thin & delicate walls showing spotty areas of necrosis & possible perforation
  • Pneumatosis intestinalis

(Terminal ileum, Cecum & Rt. colon)

76
Q

Microscopic features of NEC

A
  1. Mucosal coagulative necrosis (Submucosa & muscular layers involved)
  2. Pneumatosis intestinalis (beneath mucosa)
77
Q

Early Complications of NEC

A

Early
- Intestinal perforation
- Sepsis
- Shock
- Acute tubular necrosis
- DIC

78
Q

Late Complications of NEC

A
  • Short gut syndrome
  • Malabsorption
  • Strictures
79
Q

Neonatal Intraventricular Hemorrhage

A

Bleeding into germinal matrix w/ extension into ventricles

80
Q

Germinal Matrix

A

Source of nerve cells in embryo & fetuses (up to 33 wks of gestation)
- Richly vascular areas w/ many thin-walled capillaries that are very sensitive to anoxia

81
Q

Evolution & Sequelae of Neonatal Intraventricular Hemorrhage

A

Massive hemorrhage w/ tears in Falx cerebri or tentorium –> Rapid death

Long-term survivors
- Cavitation or Pseudocysts surrounded by hemosiderin laden macrophages & gliosis
- Hydrocephalus