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Pathology > Diseases of Infancy and Childhood > Flashcards

Diseases of Infancy and Childhood Flashcards

1
Q

Primary error of morphogenesis; intrinsically abnormal developmental process

A

Malformation

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2
Q

Anencephaly, congenital heart disease

A

Malformation

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3
Q

Secondary destruction of developed organ

A

Disruption

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4
Q

Amniotic band causing loss of fingers

A

Disruption

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5
Q

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

A

Deformation

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6
Q

Clubfeet (talipes equinovarus)

A

Deformation

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7
Q

Cascade of anomalies triggered by one initiating aberration

A

Sequence

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8
Q

Oligohydramnios (Potter ______)

A

Sequence

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9
Q

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

A

Malformation syndrome (ex. congenital rubella)

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10
Q

Most common cause of anomalies

A

UNKNOWN

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11
Q

Most common known cause of anomalies

A

Multifactorial

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12
Q

Cardiac anomalies, cataracts, hearing loss, MR

A

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

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13
Q

Phocomelia

A

Thalidomide

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14
Q

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

A

Fetal alcohol syndrome

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15
Q

Increased risk for sudden infant death syndrome

A

Smoking

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16
Q

Cardiac and neural tube defects, CNS abnormality, macrosomia

A

GDM

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17
Q

Period wherein fetus most susceptible to teratogenesis

A

3rd to 9th week

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18
Q

Most common cause of respiratory distress in newborns

A

RDS / HMD

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19
Q

Deficient in RDS

A

Surfactant (DPPC or dipalmitoylphosphatidylcholine)

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20
Q

Secretes surfactant (DPPC)

A

Type 2 pnuemocyte

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21
Q

NEVER seen in stillborn infants

A

Hyaline membrane (implication for legal med)

22
Q

Complications of hyperoxic injury (HMD?)

A

Retinopathy of prematurity and BPD

23
Q

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

A

NEC

24
Q

Radiographic signs of NEC

A

Pneumatosis intestinalis (gas in intestinal wall), pneumoperitoneum

25
Q

Common site of NEC

A

Terminal ileum, cecum, right colon

26
Q

Immune cause of fetal hydrops

A

ABO and Rh incompatibility

27
Q

Setup for ABO incompatibility

A

MOther - O, BABy - A or B

28
Q

Setup for Rh incompatibility

A

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

29
Q

More severe between ABO and Rh incompatibility

A

Rh

30
Q

Most common lethal genetic d/o among Caucasians

A

Cystic fibrosis (or mucoviscidosis)

31
Q

Genetic defect in cystic fibrosis

A

CFTR gene in Ch 7

32
Q

Two metabolic transport processes affected by CFTR gene mutation

A

Chloride transport and bicarbonate transport

33
Q

Sine qua non of cystic fibrosis

A

Salty sweat

34
Q

Consequence of bicarbonate transport defect in cystic fibrosis

A

Pancreatic insufficiency

35
Q

Reproductive defect in those with cystic fibrosis

A

Congenital bilateral absence of vas deferens

36
Q

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

A

Sudden infant death syndrome (SIDS)

37
Q

Doubles risk of SIDS

A

Maternal smoking

38
Q

Most common tumor of infancy

A

Hemangioma

39
Q

Most common location of childhood teratoma

A

Sacrococcygeal

40
Q

SMALL ROUND BLUE CELLS

A

Lahat ng mga blastoma (called blastema)

41
Q

Top 3 childhood malignancies

A

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

42
Q

Most common extracranial solid tumor of childhood

A

Neuroblastoma

43
Q

Most common site of neuroblastoma

A

Adrenal medulla

44
Q

Tumor that crosses the midline

A

Neuroblastoma

45
Q

Tumor that does not cross the midline

A

Wilm’s

46
Q

Morphologic characteristic of neuroblastoma

A

Homer-Wright pseudorosettes

47
Q

Disseminated neuroblastoma

A

Blueberry muffin baby

48
Q

Most common primary renal tumor of childhood

A

Wilm’s tumor (nephroblastoma)

49
Q

Associated with WT1 gene mutation

A

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

50
Q

Associated with WT2 gene mutation

A

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

51
Q

Peak onset of Wilm’s

A

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

52
Q

Classic triphasic tumor (blastema, stromal, epithelial)

A

Wilm’s tumor

Pathology (13 decks)

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