Pediatric Pathology

Question 1

This type of tumor is made up of cells from all three germ layers?

Answer 1

Teratoma

Question 2

What characterizes Denys-Drash syndrome?

Answer 2

Gonadal dysgenesis

Question 3

What are the symptoms of WAGR syndrome?

Answer 3

Wilms tumor, no irises, genitourinary abnormalities, intellectual disabilities

Question 4

What symptoms are associated with Turner syndrome?

Answer 4

Streak ovaries, webbed neck, short stature, CV defects, hypothyroidism, protruding ears

Question 5

What is the casuse of neonatal respiratory distress syndrome?

Answer 5

Immature surfactant production

Question 6

What are common pediatric small round blue cell tumors?

Answer 6

Neuroblastoma, retinoblastoma, nephroblastoma (Wilms tumor)

Question 7

What is Klinefelter syndrome?

Answer 7

An extra X chromosome in males, XXY

Question 8

A baby is born with an open mouth and protruding tongue. They have a single crease across their hand and Brushfield spots. What is the likely diagnosis?

Answer 8

Trisomy 21 (Down Syndrome)

Question 9

What gene is mutated in Cystic Fibrosis patients?

Answer 9

CFTR gene

Question 10

Neuroblastomas most commonly appear where?

Answer 10

Near the adrenal glands

Question 11

What is the cellular cause of cystic fibrosis?

Answer 11

Chloride channel defects

Question 12

What is the most common teratoma of childhood?

Answer 12

Sacrococcygeal Teratoma

Question 13

“Blueberry muffin baby” is associated with what type of cancer?

Answer 13

Neuroblastoma

Question 14

What symptoms are associated with Sturge-Weber syndrome?

Answer 14

Port wine stains, seizures, developmental delays, glaucoma

Question 15

A collection of fluid under the skin behind the fetal neck is called…?

Answer 15

Nuchal Translucency (NT)

Question 16

What is the difference between malformations and deformations?

Answer 16

Malformations occur due to errors in development. Disruptions occur after development and are due to extrinsic disturbances

Question 17

True/False. Most hemangiomas regress by the age of 10.

Answer 17

True

Question 18

What is a defining feature of Sturge-Weber syndrome?

Answer 18

Port wine stains

Question 19

Babies born before what week are pre-term?

Answer 19

37 weeks

Question 20

True/False. Sacrococcygeal tumors present around age 2.

Answer 20

False. They are present at birth and require surgical intervention for removal.

Question 21

What is the most common cause of deformation?

Answer 21

Uterine constraint

Question 22

Organomegaly, macroglossia, and omphalocele are characteristics of…?

Answer 22

Beckwith-Wiedemann Syndrome

Question 23

What is the cause of Cru-du-chat?

Answer 23

Deletion in the short arm of chromosome 5

Question 24

What symptoms are associated with Trisomy 18 (Edward’s Syndrome)?

Answer 24

Microcephaly, micrognathia (small jaw), rocker-bottom feet

Question 25

What are the causes of fetal hydrops?

Answer 25

Rh incompatibility, fluid accumulation

Question 26

White pupils are associated with what cancer?

Answer 26

Retinoblastoma - mutation of one Rb allele

Question 27

A baby is born and the physician notes a distinctive "cat's cry." Further examination reveals wide-set eyes and a wide, flat nasal bridge. The physician suspects what disorder?

Answer 27

Cru-du-chat

Question 28

Isolated cleft lip and/or palate is an example of...?

Answer 28

Mutifactoral inheritence - disturbances in gene expression that run in families

Question 29

What is Fragile X?

Answer 29

An unstable trinucleotide repeat in the X chromosome of a male. Patients present with long face, large mandible, large ears, and large testicles

Question 30

A patient is born with a flattened face, clubbed feet, and hypoplastic lungs. What is the diagnosis?

Answer 30

Potter Sequence

Question 31

During what timeframe is an embryo most susceptible to teratogens?

Answer 31

3rd - 9th weeks

Question 32

Gynecomastia and infertility are associated with what genetic disorder?

Answer 32

Klinefelter syndrome (XXY)

Question 33

Cleft lip, microphthalmia, and polydactyl are associated with what chromosomal abnormality?

Answer 33

Trisomy 13 (Patau Syndrome)

Question 34

What is the most common chromosomal disorder?

Answer 34

Trisomy 21 (Down Syndrome)

Question 35

After genetic testing, it is revealed a female-presenting child is missing an X chromosome. What is the diagnosis?

Answer 35

Turner syndrome (X)

Question 36

What is Potter Sequence?

Answer 36

Decreased amniotic fluid often due to leakage of amniotic fluid of renal agenesis

Question 37

What is a tumor of a blood vessel called?

Answer 37

Hemangioma