Diseases of Infancy and Childhood

Question 1

Primary error of morphogenesis; intrinsically abnormal developmental process

Answer 1

Malformation

Question 2

Anencephaly, congenital heart disease

Answer 2

Malformation

Question 3

Secondary destruction of developed organ

Answer 3

Disruption

Question 4

Amniotic band causing loss of fingers

Answer 4

Disruption

Question 5

Secondary deformation due to abnormal biomechanical process (most commonly from uterine constraint like myoma)

Answer 5

Deformation

Question 6

Clubfeet (talipes equinovarus)

Answer 6

Deformation

Question 7

Cascade of anomalies triggered by one initiating aberration

Answer 7

Sequence

Question 8

Oligohydramnios (Potter ______)

Answer 8

Sequence

Question 9

Constellation of congenital anomalies that are related but cannot be explained by one defect

Answer 9

Malformation syndrome (ex. congenital rubella)

Question 10

Most common cause of anomalies

Answer 10

UNKNOWN

Question 11

Most common known cause of anomalies

Answer 11

Multifactorial

Question 12

Cardiac anomalies, cataracts, hearing loss, MR

Answer 12

Congenital rubella (bulag, bingi, bobo, butas sa puso)

Question 13

Phocomelia

Answer 13

Thalidomide

Question 14

Microcephaly, IUGR, facial anomalies (flattened philtrum), MR

Answer 14

Fetal alcohol syndrome

Question 15

Increased risk for sudden infant death syndrome

Answer 15

Smoking

Question 16

Cardiac and neural tube defects, CNS abnormality, macrosomia

Answer 16

GDM

Question 17

Period wherein fetus most susceptible to teratogenesis

Answer 17

3rd to 9th week

Question 18

Most common cause of respiratory distress in newborns

Answer 18

RDS / HMD

Question 19

Deficient in RDS

Answer 19

Surfactant (DPPC or dipalmitoylphosphatidylcholine)

Question 20

Secretes surfactant (DPPC)

Answer 20

Type 2 pnuemocyte

Question 21

NEVER seen in stillborn infants

Answer 21

Hyaline membrane (implication for legal med)

Question 22

Complications of hyperoxic injury (HMD?)

Answer 22

Retinopathy of prematurity and BPD

Question 23

Pathophysiology is loss of mucosal integrity, permitting transluminal transpo of bacteria

Answer 23

NEC

Question 24

Radiographic signs of NEC

Answer 24

Pneumatosis intestinalis (gas in intestinal wall), pneumoperitoneum

Question 25

Common site of NEC

Answer 25

Terminal ileum, cecum, right colon

Question 26

Immune cause of fetal hydrops

Answer 26

ABO and Rh incompatibility

Question 27

Setup for ABO incompatibility

Answer 27

MOther - O, BABy - A or B

Question 28

Setup for Rh incompatibility

Answer 28

Mother - Rh (-), baby Rh (+) (significant for subsequent pregnancies)

Question 29

More severe between ABO and Rh incompatibility

Answer 29

Rh

Question 30

Most common lethal genetic d/o among Caucasians

Answer 30

Cystic fibrosis (or mucoviscidosis)

Question 31

Genetic defect in cystic fibrosis

Answer 31

CFTR gene in Ch 7

Question 32

Two metabolic transport processes affected by CFTR gene mutation

Answer 32

Chloride transport and bicarbonate transport

Question 33

Sine qua non of cystic fibrosis

Answer 33

Salty sweat

Question 34

Consequence of bicarbonate transport defect in cystic fibrosis

Answer 34

Pancreatic insufficiency

Question 35

Reproductive defect in those with cystic fibrosis

Answer 35

Congenital bilateral absence of vas deferens

Question 36

Sudden death of an infant under 1 year of age which remains unexplained after thorough case investigation, including (1) complete autopsy, (2) examination of death scene, (3) review of clinical history

Answer 36

Sudden infant death syndrome (SIDS)

Question 37

Doubles risk of SIDS

Answer 37

Maternal smoking

Question 38

Most common tumor of infancy

Answer 38

Hemangioma

Question 39

Most common location of childhood teratoma

Answer 39

Sacrococcygeal

Question 40

SMALL ROUND BLUE CELLS

Answer 40

Lahat ng mga blastoma (called blastema)

Question 41

Top 3 childhood malignancies

Answer 41

Leukemia (ALL), neuroblastoma, Wilm's tumor (nephroblastoma)

Question 42

Most common extracranial solid tumor of childhood

Answer 42

Neuroblastoma

Question 43

Most common site of neuroblastoma

Answer 43

Adrenal medulla

Question 44

Tumor that crosses the midline

Answer 44

Neuroblastoma

Question 45

Tumor that does not cross the midline

Answer 45

Wilm's

Question 46

Morphologic characteristic of neuroblastoma

Answer 46

Homer-Wright pseudorosettes

Question 47

Disseminated neuroblastoma

Answer 47

Blueberry muffin baby

Question 48

Most common primary renal tumor of childhood

Answer 48

Wilm's tumor (nephroblastoma)

Question 49

Associated with WT1 gene mutation

Answer 49

WAGR syndrome (Wilm's, aniridia, genital anomalies, retardation) AND Denys-Drash (gonadal dysgenesis with risk of gonadoblastoma; early onset nephropathy of diffuse mesangial sclerosis)

Question 50

Associated with WT2 gene mutation

Answer 50

Beckwith-Wiedemann (enlargement of body organs, macroglossia, etc)

Question 51

Peak onset of Wilm's

Answer 51

2-5 years, with 95% occurring by age 10

Question 52

Classic triphasic tumor (blastema, stromal, epithelial)

Answer 52

Wilm's tumor