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MNI (bones and joints path) > L43- Pediatric Pathology I > Flashcards

L43- Pediatric Pathology I Flashcards

1
Q

neonate definition

A

first 4 wks of life

  • Infant- 1st yr
  • Early childhood: 1-4y/o (pre-school age)
  • Late childhood: 5-14y/o
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2
Q

list most common causes of death in infancy

A

(<1y/o)

  • congenital malformations, deformations, chromosomal abnormalities
  • pre-maturity: disorders with short gestation and low birth weight
  • SIDS
  • maternal complications of pregnancy
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3
Q

list most common causes of death in early childhood

A

(1-4 y/o)

  • accidents (eg. drowning)
  • congenital anomalies
  • assault / abuse / homicide
  • malignant neoplasms
  • heart diseases
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4
Q

list the most common causes of death in late childhood, 5-9 y/o

A
  • accidents
  • malignant neoplasms
  • congenital anomalies
  • assault / abuse / homicide
  • influenza, pneumonia
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5
Q

list the most common causes of death in late childhood, 10-14 y/o

A
  • accidents
  • malignant neoplasms
  • suicide
  • assault / abuse / homicide
  • congenital anomalies
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6
Q

define birth injuries and list pre-disposing factors

A

-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
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7
Q

list the common birth injuries (by category)

A

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

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8
Q

categorize the causes of congenital malformation

A

Genetic (16%):

  • chromosomal abbertations
  • mendelian inheritance

Environment (11%):

  • maternal - placental infections
  • maternal disease
  • drugs
  • irradiation

Multifactorial (23%)
Unknown (50%)

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9
Q

Genetic causes of congenital abnormalities:

  • responsible for (1)% of anomalies
  • (chromosomal syndromes / single gene mutations) are more common
A

1- 12-25%, ~16%

2- chromosome (10-15%) > mutations (2-10%)

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10
Q

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
A

1- Zika
2- syphilis
3- rubella
4- toxoplasmosis

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11
Q

describe the congenital effects of diabetic embryopathy (high levels of glucose exposed to fetus)

A

various skeletal, CNS, cardiac anomalies

-large babies

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12
Q

describe the congenital effects of maternal phenylketouria

A
  • mental retardation, microcephaly
  • congenital heart disease
  • intrauterine growth retardation
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13
Q

(1) is the most common chromosomal disorder.
- results from (2) genetic event
- (3) is a strong risk factor for incidence of (1)

A

1- Down syndrome, trisomy 21

2- meiotic non-disjunction (mostly mothers)

3- maternal age

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14
Q

list the many clinical features of Down syndrome

A
  • severe intellectual disability
  • flat facial epicanthic folds
  • cardiac malformations
  • duodenal atresia
  • inc risk leukemia, infections
  • premature Alzheimer’s development
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15
Q

(45,X) = (1)

-(2) is an alternate, less common cause of (1)

A

1- Turner syndrome

2- mosaicism

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16
Q

list the many clinical features of Turner syndrome

A
  • 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

17
Q

Klinefelter syndrome = (1) genetic abnormality, include most common form. (1) usually results from (2) genetic event. It is the most common cause of (3).

A

1- one Y chromosome, at least two X chromosomes (**47XXY, 48XXXY, etc)

2- non–disjunction of sex chromosomes during meiosis

3- hypogonadism

18
Q

Klinefelter syndrome:

  • (1) main clinical features
  • inc risk to develop the following, (2)
A

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
19
Q

Di George Syndrome:

  • (1) Dx
  • (2) Sxs
A

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

20
Q

Define Malformation

A

-primary structural abnormality with poor formation of tissue – localized error occurring during development

  • intrinsically abnormal development process
  • most children are normal otherwise
21
Q

list the common example of malformations

A
  • polydactyly, syndactyly
  • cleft lip, cleft palate
  • congenital heart disease
22
Q

Define Disruption

A
  • structural defect via secondary destruction / interference of previously normally formed part
  • extrinsic disturbance in morphogenesis
23
Q

define Amniotic bands and include what type of congenital abnormality it is

A

(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

24
Q

Define Deformation

A

-localized or generalized compression of growing fetus by abnormal biomechanical forces

  • extrinsic disturbance
  • arises later in fetal life
25
Q

Deformations:

  • (1) is the most common cause
  • (2) are maternal risk factors
  • (3) are fetal risk factors
A

1- uterine constraint

2- 1st pregnancy, small uterus, leiomyomas, malformed uterus

3- multiple fetuses, oligohydramnios (low amniotic fluid), abnormal presentation

26
Q

______ is a very common deformation

A

clubfoot

27
Q

Define Sequence

A
  • multiple congenital anomalies resulting from secondary effects on Single Localized aberration in organogenesis
  • initiating event may be a malformation, disruption, deformation
28
Q

Potter sequence = (1):

  • (2) are causes of (1)
  • (3) are the consequences
A

1- oligohydramnios sequence (lack of amniotic fluid)

2:

  • renal agenesis / maldevelopment
  • amniotic fluid leak
  • uteroplacental insufficiency

3:

  • Oligohydramnios: amnion nodosum (nodules), pulmonary hypoplasia
  • Fetal compression: pulmonary hypoplasia, altered facies, positioning defects of hands/feet, breech presentation
29
Q
  • (1) definition of malformation syndrome
  • (2) are the exceptions to (1)
  • (3) are the general principles malformation syndromes depend on
A

Definition: 1 or more developmental anomalies of 2 or more systems

  • depends on timing in gestation / development (if it will occur, what will occur, severity of malformation)
  • may relate to teratogenic targets: eg. SHH, HOX genes
  • Down syndrome
  • Kleinfelter’s syndrome
30
Q

Match the error with the following definitions of morphogenesis:

  • (1) multiple congenital anomalies resulting from secondary effects on Single Localized aberration in organogenesis
  • (2) localized or generalized compression of growing fetus by abnormal biomechanical forces
  • (3) primary structural abnormality with poor formation of tissue – localized error occurring during development
  • (4) structural defect via secondary destruction / interference of previously normally formed part
A

1- sequence
2- deformation
3- malformation
4- disruption

31
Q

Match the error with corresponding morphogenesis:

  • (1) amniotic band syndrome
  • (2) cleft lip/palate
  • (3) clubfoot
  • (4) oligohydramnios
  • (5) polydactyly/syndactyly
A 
1- disruption
2- malformation
3- deformation
4- sequence
5- malformation

MNI (bones and joints path) (10 decks)

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