Pediatric Path Flashcards
1
Q
Neonates
A
First 4 weeks
2
Q
Infants
A
First year
3
Q
Toddler
A
1-3 years
4
Q
Preschool age
A
3-6 years
5
Q
School age
A
6-12 years
6
Q
Adolescent
A
10-19 years
7
Q
What are birth injuries?
A
Spectrum of mechanical trauma to anoxic damage during birth
8
Q
Predisposing factors for Birth Injuries
A
- Cephalopelvic disproportion (CPD)- Head of baby is too big or Mother’s pelvic is too small
- Difficult labor/ Breech presentation - Head of baby is not the first presenting part
- Prematurity - Before 32 weeks of gestation
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
10
Q
Congenital Anomalies
A
Morphological defects that are present at birth
NB: Some may present clinically years later
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
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
13
Q
Intrauterine Growth Retardation (IGR)
A
14
Q
Effects of Thalidomide
A
Limb malformations (Phocomelia)
Drug banned; but was used as an antiemetic to treat severe morning sickness
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
16
Q
Effects of Nicotine use during pregnancy
A
- Spontaneous abortion
- Premature labor
- Placental abnormalities
- Low birth weight
- Sudden Infant Death Syndrome (SIDS)
Catecholamine release –> Vasoconstriction –> Dec blood flow to placenta
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
18
Q
Down Syndrome Etiology
A
- Trisomy 21 –> Meiotic non-disjunction –> extra Chr 21 in every cell
- MC chromosomal disorder
19
Q
RFs of Down Syndrome
A
- Inc Maternal age –> Inc risk of non-disjunction
20
Q
CFs of Down Syndrome
A
- Severe intellectual disability
- Flat face & Present Epicanthic folds
- Abundant neck skin
- Simian crease
- Cardiac malformations - AVSD (VSD more common)
- Duodenal & Esophageal atresia/ stenosis
- Hypotonia
- Gap between 1st & 2nd toe
21
Q
What does Down syndrome Pre-dispose to?
A
- Acute leukemias - ALL, AML (M7 most commonly)
- Infections
22
Q
Etiology of Turner Syndrome
A
- 45X Karyotype –> Partial/complete monosomy of genes of the short arm of X chromosome
23
Q
CFs of Turner Syndrome
A
- Short stature
- Webbed neck
- cubitus valgus
- CVS malformations - Aorta coarctation, Bicuspid Aortic valve
- Horseshoe kidney
- Amenorrhea & Infertility
- Lacks sexual characteristics
- Fibrotic/ “Streak” ovaries
- Low posterior hairline
- Peripheral lymphedema @ birth
- Broad chest w/ widely spaced nipples
- Pigmented nevi
24
Q
Errors in Morphogenesis
A
- Malformation
- Disruption
- Deformation
25
Malformation
INTRINSIC defect --> Poor localized development
- Child normal other than defect
- Genetic or Chromosomal or Multifactorial
26
Types of Malformations
1. Polydactyly - 1 or more digits
2. Syndactyly - Fusion of digits
3. Cleft lip & palate - Trisomy 13
4. Congenital Heart defects - ASD
27
Disruption
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
28
Deformation
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
29
Maternal causes of Deformities
- 1st pregnancy
- Malformed or small uterus - Generalize compression
- Leiomyomas/ Fibroids
30
Fetal/placental causes of Deformities
- Oligohydramnios
- Multiple fetuses
- Abnormal/ breech presentation
31
Sequence
Cascade of anomalies ff an initiating aberration
- Malformation/ Disruption/ Deformities --> Secondary effects in other organs
32
Example of Sequence
Oligohydramnios Potter Syndrome
33
Pathogenesis of Oligohydramnios Potter's Syndrome
Maternal HTN --> Uteroplacental insufficiency , Renal agenesis & Urinary tract obstruction
- Dec amniotic --> Less protection/ Inc pressure
34
CFs of Potter's Syndrome
1. Short/ small
2. Hypoplastic lungs (Dec proline)- COD
3. Dislocated hips
4. Flat facial features
4. Deformed feet
35
Malformation Syndrome
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
Klinefelter Syndrome
Male hypogonadism in the presence of at least 2 X chromosomes & 1+ Y chromosome
- MC cause o male hypogonadism
37
Etiology of Klinefelter Syndrome
Non-disjunction of Sex chromosomes during MEIOSIS
38
Karyotypes of Klinefelter Syndrome
1. 47XXY - Most common
2. 48XXXY
3. Any other combination w/ 2+ X-chromosome & 1+ Y-chromosome
39
CFs o Klinefelter Syndrome
- Testicular atrophy & Sterility
- Dec body hair
- Gynecomastia
- Eunuchoid body habitus
- Narrow shoulders
- Long legs
- Wide hips
- Female-type pubic hair pattern
40
What diseases can Klinefelter Syndrome predispose pts. to?
1. Breast cancer
2. Extragonadal germ cell tumors
3. Autoimmune disease
41
22q11.2 Deletion Syndrome
Malformations affecting the face, heart, thymus & parathyroid glands due to deletion of 22q11.2
42
Diagnosis of 22q11.2 deletion
FISH
43
Syndromes that can arise due to 22q11.2 deletion
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
Appropriate for gestational age (AGA)
Birth weight b/w 10th - 90th percentile for GA
45
Small for gestational age (SGA)
Birth weight < 10th percentile for GA
- Indicator of fetal growth restriction
- Marker for
46
Large for gestational age (LGA)
Birth weight > 90th percentile for GA
- Indicator of Inc fetal growth eg. Gestational diabetes
- Associated w/ birth injuries
47
Prematurity
<37 weeks of gestation
48
Low Birth weight
< 2500 gm @ birth
49
Causes of Low Birth Weight
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
Fetal causes of Prematurity & Low Birth weight
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
Placental Prematurity & Low Birth weight
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
Maternal causes of Prematurity & Low Birth weight
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
APGAR Score
- 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
APGAR "A" Category & Scoring
1. Appearance
- Blue = 0
- Pink body & Blue extremities = 1
- Pink = 2
55
APGAR "P" Category & Scoring
2. Pulse "Heat Rate"
- Absent = 0
- <100 = 1
- > 100 = 2
56
APGAR "G" Category & Scoring
3. Grimace " Response to catheter in throat"
- None = 0
- Grimace = 1
- Cough or sneeze = 2
57
APGAR "A"2 Category & Scoring
4. Activity "Muscle one"
- Limp = 0
- Some flexion = 1
- Active motion = 2
58
APGAR "R" Category & Scoring
5. Respiratory effort
- Absent = 0
- Slow & irregular = 1
- Good & crying = 2
59
Complications of Prermaturity
1. Hyaline Membrane Disease
2. Necrotizing Enterocolitis
60
Respiratory Distress Syndrome
AKA: Hyaline Membrace Disease
61
RFs of RDS
- Prematurity
- Perinatal asphyxia
- Maternal Diabetes
- C-section before labor onset
- Twin gestation
- Male sex
62
Pathogenesis of RDS
63
Surfactant
- Dec surface tension --> Open alveolar
- Production @ week 35 - 36
64
CFs of RDS
- Normal @ birth (usually)
- Labored, grunting respirations that progressively worsens (mins to hours)
65
Gross pathology of RDS
LUNGS
- Normal size
- Solid, airless & Red-purple color (Looks like liver)
66
Radiologic features o RDS
"Ground glass lungs"
67
Microscopic features of RDS
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
Prevention of RDS
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
Complications of RDS
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
Neonatal Necrotizing Enterocolitis (NEC)
Affects premature infants & term infants of low birth weight
71
Etiology of NEC
Multifactorial
- 25-50% mortality
-Occurs in 2nd - 3rd week of life
72
Predisposing factors for NES
- Intestinal ischemia
- Bacterial colonization of gut
- Formula feeding
73
CFs of NEC
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
Diagnosis of NEC
1. Abdominal radiograph - Dilated loops of bowels
2. Pneumatosis intestinalis - Gas w/i intestinal wall
75
Pathological features of NEC
- Distended bowel w/ thin & delicate walls showing spotty areas of necrosis & possible perforation
- Pneumatosis intestinalis
(Terminal ileum, Cecum & Rt. colon)
76
Microscopic features of NEC
1. Mucosal coagulative necrosis (Submucosa & muscular layers involved)
2. Pneumatosis intestinalis (beneath mucosa)
77
Early Complications of NEC
Early
- Intestinal perforation
- Sepsis
- Shock
- Acute tubular necrosis
- DIC
78
Late Complications of NEC
- Short gut syndrome
- Malabsorption
- Strictures
79
Neonatal Intraventricular Hemorrhage
Bleeding into germinal matrix w/ extension into ventricles
80
Germinal Matrix
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
Evolution & Sequelae of Neonatal Intraventricular Hemorrhage
Massive hemorrhage w/ tears in Falx cerebri or tentorium --> Rapid death
Long-term survivors
- Cavitation or Pseudocysts surrounded by hemosiderin laden macrophages & gliosis
- Hydrocephalus
