L43- Pediatric Pathology I Flashcards
neonate definition
first 4 wks of life
- Infant- 1st yr
- Early childhood: 1-4y/o (pre-school age)
- Late childhood: 5-14y/o
list most common causes of death in infancy
(<1y/o)
- congenital malformations, deformations, chromosomal abnormalities
- pre-maturity: disorders with short gestation and low birth weight
- SIDS
- maternal complications of pregnancy
list most common causes of death in early childhood
(1-4 y/o)
- accidents (eg. drowning)
- congenital anomalies
- assault / abuse / homicide
- malignant neoplasms
- heart diseases
list the most common causes of death in late childhood, 5-9 y/o
- accidents
- malignant neoplasms
- congenital anomalies
- assault / abuse / homicide
- influenza, pneumonia
list the most common causes of death in late childhood, 10-14 y/o
- accidents
- malignant neoplasms
- suicide
- assault / abuse / homicide
- congenital anomalies
define birth injuries and list pre-disposing factors
-spectrum of mechanical to anoxic damage to neonate
Risks:
- cephalopelvic disproportion (head is bigger than pelvic opening)
- difficult labor (Breech presentation- not head down)
- prematurity
list the common birth injuries (by category)
Cranial injuries: caput succedaneum (bump of head), cephalohematoma, skull fractures, intracranial hemorrhage
Peripheral nerve injuries: brachial palsy, facial nerve palsy
Fractures: clavicle, humerus
Rupture of liver
categorize the causes of congenital malformation
Genetic (16%):
- chromosomal abbertations
- mendelian inheritance
Environment (11%):
- maternal - placental infections
- maternal disease
- drugs
- irradiation
Multifactorial (23%)
Unknown (50%)
Genetic causes of congenital abnormalities:
- responsible for (1)% of anomalies
- (chromosomal syndromes / single gene mutations) are more common
1- 12-25%, ~16%
2- chromosome (10-15%) > mutations (2-10%)
name the maternal infection related to the following congenital abnormalities:
- (1) CNS abnormalities - microencephalopathy
- (2) facial abnormalities with hutchinson teeth
- (3) PDA, cataract, microcephaly, sensory neural deafness
- (4) encephalopathy, retinopathy, hydrocephalus
1- Zika
2- syphilis
3- rubella
4- toxoplasmosis
describe the congenital effects of diabetic embryopathy (high levels of glucose exposed to fetus)
various skeletal, CNS, cardiac anomalies
-large babies
describe the congenital effects of maternal phenylketouria
- mental retardation, microcephaly
- congenital heart disease
- intrauterine growth retardation
(1) is the most common chromosomal disorder.
- results from (2) genetic event
- (3) is a strong risk factor for incidence of (1)
1- Down syndrome, trisomy 21
2- meiotic non-disjunction (mostly mothers)
3- maternal age
list the many clinical features of Down syndrome
- severe intellectual disability
- flat facial epicanthic folds
- cardiac malformations
- duodenal atresia
- inc risk leukemia, infections
- premature Alzheimer’s development
(45,X) = (1)
-(2) is an alternate, less common cause of (1)
1- Turner syndrome
2- mosaicism
list the many clinical features of Turner syndrome
- short stature, webbing of neck
- cubitus valgus
- CV malformations: coarctation of aorta, bicuspid aortic valve
- horseshoe kidney
-amenorrhea (infertility), lacks secondary sexual characteristics (no puberty), fibrotic ovaries
Klinefelter syndrome = (1) genetic abnormality, include most common form. (1) usually results from (2) genetic event. It is the most common cause of (3).
1- one Y chromosome, at least two X chromosomes (**47XXY, 48XXXY, etc)
2- non–disjunction of sex chromosomes during meiosis
3- hypogonadism
Klinefelter syndrome:
- (1) main clinical features
- inc risk to develop the following, (2)
1:
- testicular atrophy = sterility
- reduced body hair
- gynecomastia
- eunuchoid body habitus (tall, slim, underweight, long arms/legs)
2:
- breast cancer
- extragonadal germ cell tumors
- autoimmune diseases
Di George Syndrome:
- (1) Dx
- (2) Sxs
1- FISH
2- CATCH 22 (+ velocardiofaical syndrome)
- Cardiac abonormalities- congenital heart disease, outflow tracts
- Abnormal facies: facial dysmorphism
- Thymic aplasia (dec T cells)
- Cleft palate
- Hypocalcemia via parathyroid,hypoplasia
+ psychoses (bipolar, schizophrenia), developmental delay
Define Malformation
-primary structural abnormality with poor formation of tissue – localized error occurring during development
- intrinsically abnormal development process
- most children are normal otherwise
list the common example of malformations
- polydactyly, syndactyly
- cleft lip, cleft palate
- congenital heart disease
Define Disruption
- structural defect via secondary destruction / interference of previously normally formed part
- extrinsic disturbance in morphogenesis
define Amniotic bands and include what type of congenital abnormality it is
(Disruption)
-entanglement followed by tearing apart / amputation of normally developed structure
-interruptions of blood supply leading to infarction, necrosis, and/or resorption of distal structures
Define Deformation
-localized or generalized compression of growing fetus by abnormal biomechanical forces
- extrinsic disturbance
- arises later in fetal life
