Pediatric Pathology Flashcards

1
Q

Congenital abnormality

A

Morphologic defects present at birth

–>#1cause of mortality in the first year of life

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2
Q

Malformation

A

INTRINSIC abnormality

  • Teratogen
  • Genetic aberration
  • Maternal Disease
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3
Q

Deformation

A

EXTRINSIC abnormality

  • compression of growing fetus
  • mechanical error in dev
  • –>secondary to another condition usually(oligohydraminos)
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4
Q

Disruption

A

EXTRINSIC abnormality

  • Destruction of previously normal formed structure
  • ->digit loss
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5
Q

Syndrome

A

Constellation of multiple abnormalities

-Ex-Trisomy

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6
Q

Trisomy 21

A

Identification-FISH and karyotyping
-prenatal detection possible
Hallmarks- MOST COMMON age related chromosomal abnormality
Features- Variable levels of mental retardation, single palmar crease

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7
Q

Trisomy 18

A
  • Multiorgan system failure, SYNDROME
  • Features:Overlapping digits, rocker feet
  • Not compatible with life,
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8
Q

Features of Omphalocele

A
  • defect at insertion of the umbillical cord
  • MUSCLE FAT AND FASCIA absent
  • Opening covered with translucent membrane
  • MOST HAVE OTHER CONGENITAL ABNORMALITIES
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9
Q

Gastroschisis

A

NO ASSOCIATED CONGENITAL ABNORMALITIES

  • Normal umbillical insertion
  • wall did not close properly
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10
Q

Differences b/w gastoschisis and omphalocele

A

Gastro-Cord Lateral Omphalo-Cord on top

  • no other abnormal -other abnormals
  • abdominal wal close fine -missing muscle fascia and fat
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11
Q

Fetal Macrosomia

A

High Birthweight 90% or higher for Gestational Age

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12
Q

Post Term

A

Delivered after 42 weeks

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13
Q

Pre Term Baby

A

Born before 37-38 weeks

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14
Q

Diabetic Mothers

A

often give birth to Macrosomic babies(LGA)

  • Often children will have genetic abnormalities
    - Ventricular Septal Defect
  • Hypoglycemia a concern in neo-nate
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15
Q

SUID

A

better term than SIDS
-encompasses all sleep related deaths in infants
-usually do to suffocation or strangulation in bed
Definition:death of an infant under 1 that remains unexplained after investigation

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16
Q

What are the most common ages of SUIDS deaths?

A

2-4 months
Etiology still unclear
-SLEEPING ON BACK seems to reduce number of SUIDs cases

17
Q

Potential Explaination for SUIDs

A
  • decreased 5-HT neurons that influence homeostatic mechanisms
  • Males have much larger decreases in receptor, more likely for spontanteous stop[age of breathing
18
Q

SUIDS Prevention

A

1) Breast Feeding
2) Immunization- reduce risk by 50%
3) Cribs-NOTHING BUT BABY in crib

19
Q

Maternal Alcohol Abuse and fetal effects

A

Intrauterine growth retardation, overlapping toes together

 - common to have drug induced extremity abnormalites
 - Maternal-->smoking, drug alch abuse, HTN, PreEclampsia- small/scrawny villi
20
Q

Prenatal CMV infection

A

VERY BAD early in pregnancy

  • Fetus=small for gestational age
  • Transmission:Intrauterine
    - mothers milk from infected mom
    - Resp droplets
  • 90% have sequlae
  • 25 % of congenital hearing loss is from EBV
21
Q

Viral Infections that affect mom and baby

A
T-toxoplasmosis
O-Other
R-Rebella
C-cytomegalovirus
H-herpes
22
Q

Placenta

A

Examined grossly after delivery
-If baby begins to not do well then look at placenta for clues to pre-partum problems(Concerns about moms activity/diseases= ok to search

23
Q

APGAR score

A
PREDICTOR OF PERINATAL MORTALITY
Measures
1)Heart rate-over 100=2
2)Resp rate-good=2
3)Muscle tone-flexion only=1
4)Nasal stimulus-cough=2
5)Color- Body/not face pink=1
24
Q

APGAR of 0-1

A

50% mortality risk

25
Q

What newborn screenings are required by all states?

A

1) Congenital Hypothyroidism

2) PKU

26
Q

What makes a good screening

A

1) ID something before clinically identifiable
2) High Sensitivity and Specificity
3) Early treatment available

27
Q

Most common diseases caught by NE newborn screen?

A

1) Congenital Hypothyroidism
2) Cystic Fibrosis
3) Hearing Screening-1/1000-2000 kids

28
Q

Metabolic Disorder Screening

A

Done because disorders are 1) treatable early 2) present NON SPECIFICALLY in clinic

29
Q

Diagnostics for Cystic Fibrosis

A

Sweat Chloride Test 2 times
or
Molecular Genetics- DELTA F508-most common genotype
or Positive screen and characteristic features

30
Q

Cystic Fibrosis

A

Characteristics: Malnutrition and Steatorrhea

1/2500 Caucasians, M=F

31
Q

Hirschprungs

A

Bowel 5x normal size

  • caused by LACK of GANGLION cells in region of bowel
    - cause bowel to be stenotic
  • Usually Rectal localized, Usually presents in first month of life
  • Associated with Down Syndrome, and other congenital abnormalities
32
Q

Hemangioma

A

Vascular lesion

  • comprise 2/3 of all soft tissue tumors in infants and kids
  • most of the time not a problem unless are pressing on some internal structure
33
Q

Teratomas in kids vs adults

A

Kids=extra gonadal Adults-Testicular tumors common

no metastasis metastasize regularly

34
Q

Pediatric Cancers

A

Leukemia=Most common
CNS Tumors
Lymphomas
Wilms Tumor-Kidney

Low mortality rate
Small Round BLUE Cell Tumors