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PATHOLOGY (2nd year) > DISEASES OF INFANCY AND CHILDHOOD > Flashcards

DISEASES OF INFANCY AND CHILDHOOD Flashcards

1
Q

-primary error of morphogenesis
-there is an intrinsically abnormal developmental process
-single gene or chromosomal defect, or multifactorial

A

MALFORMATION

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2
Q

-secondary destruction of an organ or body region that was previously normal in development
-arise from extrinsic disturbance in morphogenesis; -not heritable

A

DISRUPTION

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3
Q

-extrinsic disturbance of development
-abnormal biomechanical forces leading to structural abnormalities

A

DEFORMATION

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4
Q

Anencephaly
Congenital heart disease

A

MALFORMATION

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5
Q

Amniotic bands compression parts of fetus

A

DISRUPTION

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6
Q

Club feet Facial deformations

A

DEFORMATION

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7
Q

cascade of anomalies triggered by one initiating aberration

A

SEQUENCE

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8
Q

constellation of congenital anomalies that cannot be explained on the basis of a single, localized, initiating defect

A

MALFORMATION SYNDROME

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9
Q

complete absence of an organ and its associated primordium

A

AGENESIS

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10
Q

absence of an organ but one that occurs due to failure of growth of the existing primordium

A

APLASIA

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11
Q

absence of an opening

A

ATRESIA

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12
Q

Oligohydramnios
Potter sequence -(Renal, lung and form abnormalities)

A

SEQUENCE

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13
Q

Congenital rubella syndrome

A

MALFORMATION SYNDROME

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14
Q

cutis congenita

A

APLASIA

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15
Q

most common Tracheoesophageal atresia
-atretic proximal esophagus with associated fistula between trachea and distal esophagus

A

TYPE C

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16
Q

incomplete development or decreased size of an organ with decreased numbers of cells

A

HYPOPLASIA

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17
Q

enlargement of an organ due to increased numbers of cells

A

HYPERPLASIA

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18
Q

increase in the size

A

HYPERTROPHY

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19
Q

decrease in the size

A

HYPOTROPHY

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20
Q

abnormal organization of cells
group of tissues abnormally disorganized

A

DYSPLASIA

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21
Q

one or more extra digits

A

POLYDACTYLY

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22
Q

fusion of digits
have little functional consequence when they occur in isolation

A

SYNDACTYLY

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23
Q

(crooked) defective angulation of finger

A

CLINODACTYLY

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24
Q

compatible with life when it occurs as an isolated anomaly

A

CLEFT LIP, with or without associated CLEFT
PALATE

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25
Q

result of genetic mutations on the SONIC HEDGEHOG PATHWAY

(responsible in development of central or axial facial structures)

A

CYCLOPIA
MIDLINE FACIAL ABNORMALITY

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26
Q

CAUSES OF ANOMALIES
Most common cause: unknown

A

40-60%

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27
Q

CAUSES OF ANOMALIES
Most commonly known causes: multifactorial

A

20-25%

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28
Q

CAUSES OF CONGENITAL ANOMALIES
Chromosomal aberrations

A

10-15%

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29
Q

CAUSES OF CONGENITAL ANOMALIES
Mendelian inheritance

A

2-10%

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30
Q

Chromosomal aberrations - usual anomalies resulting from hyperploidy

A

Trisomy 21, 18, 13

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31
Q

Maternal/Placental infections

A

TORCH infections

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32
Q

Thalidomide

A

phocomelia/amelia

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33
Q

Varying degrees of microcephaly, small eye opening, lack of philtrum, no nasal bridge

A

FETAL ALCOHOL SYNDROME

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34
Q

Fetal macrosomia, cardiac anomalies, neural tube defects, CNS abnormalities

A

DIABETIC EMBRYOPATHY

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35
Q

Embryo most susceptible to abortion during early embryonic period

A

first 3 weeks post fertilization

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36
Q

extremely susceptible to different abnormalities

A

3rd – 9th week

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37
Q

peak susceptibility (most susceptible to teratogenic effects)

A

4th – 5th week

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38
Q

period of organogenesis

A

9 weeks and after

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39
Q

inhibitor of Hedgehog signaling;
holoprosencephaly and cyclopia

A

Cyclopamine

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40
Q

homeobox (HOX) proteins; limb,
vertebrae and craniofacial defects

A

Valproic acid

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41
Q

important for cell differentiation and maturation
eye, GU, cardiovascular,
diaphragm, lung malformation

A

Vitamin A deficiency

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42
Q

deregulation of TGF-B signaling pathway; CNS, cardiac and craniofacial defects

A

Retinoic acid embryopathy

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43
Q

Less than 37 weeks AOG
Second most common cause of neonatal mortality

A

PREMATURITY

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44
Q

Second most common cause of neonatal mortality

A

PREMATURITY

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45
Q

Inflammation of the umbilical cord. Presence of nodules pointed by arrow.

A

FUNISITIS

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46
Q

Presence of inflammatory cells infiltrating the chorion and the amnion.

A

CHORIOAMNIONITIS

47
Q

Presence of clue cells covered by coxoid microorganisms.

A

BACTERIAL VAGINOSIS

48
Q

Pulmonary immaturity and surfactant deficiency

A

NEONATAL RDS (HYALINE MEMBRANE DISEASE)

49
Q

NEONATAL RDS (HYALINE MEMBRANE DISEASE)
Usually for innate immunity

50
Q

NEONATAL RDS (HYALINE MEMBRANE DISEASE)

responsible for reduction of surface
tension

51
Q

modulated by cortisol, insulin, PRL, thyroxine and TGF-B; increased by labor

A

SURFACTANT SYNTHESIS

52
Q

CLINICAL ASPECTS:
o 60% of cases occur in 34 weeks
o Rapid increase in surfactant production after 3th week o Corticosteroids for fetal lung maturation (24-34 weeks
AOG)

A

NEONATAL RDS (HYALINE MEMBRANE DISEASE)

53
Q

COMPLICATIONS
-Retinopathy of prematurity
-Bronchopulmonary dysplasia

A

NEONATAL RDS (HYALINE MEMBRANE DISEASE)

54
Q

SMALL for gestational Age
SGA

A

less than 2,500

55
Q

SMALL for GESTATIONAL AGE
SGA

A

less than 2,500 grams

56
Q

 Occurs in 1 in 10 very-low-birth-weight infants
 Prematurity, alteration in the microbiome on enteral
feeding
 Platelet activating factor - increase mucosal permeability

A

NECROTIZING ENTEROCOLITIS

57
Q

NECROTIZING ENTEROCOLITIS
affects the
___
___
___

A

-terminal ileum
-cecum
-right colon

58
Q

preterm birth may be related to damage and rupture of amniotic sac or induction of labor by prostaglandins
o Pneumonia, sepsis, meningitis

A

TRANSCERVICAL ( ASCENDING) INFECTIONS

59
Q

mostcomon causeof PERINATAL INFECTIONS

A

GROUP B STREPTOCOCCUS

60
Q

Examples of transplacental (hematologic) infections

A

PARVOVIRUS 19
TORCH infections
- (taxoplasmosis, other-syphilis, hepB, rubella, megalovirus, herpes simplex)

61
Q

Causes erythema infectiosum or “fifth disease of
childhood” in immunocompetent older children, can infect 1% to 5% of seronegative (nonimmune) pregnant women, and the vast majority have a normal pregnancy outcome.

A

PARVOVIRUS B19
- extreme end result = bone marrow aplasia/ red cell aplasia

62
Q

in TORCH infections
early onset sepsis = ?
late onset sespsis= ?

A

early onset sepsis = first 7 days (GBS)
late onset sespsis= 7to 3 months (listeria and candida)

63
Q

Accumulation of edema fluid in the fetus during intrauterine growth

A

FETAL HYDROPS

64
Q

2 TYPES OF FETAL HYDROPS

A

IMMUNE HYDROPS
NON IMMUNE HYDROPS

65
Q

o Caused by blood group antigen incompatibility
o Immunizationofthemotherbybloodgroupantigenson
fetal red cells and the free passage of antibodies from
the mother through the placenta to the fetus

A

IMMUNE HYDROPS

66
Q

Hemolytic disease develops only when the mother
has experienced a significant transplacental bleed
(>1mL of Rh-positive fetal red cells)

A

IMMUNE HYDROPS

67
Q

3 MAJOR CAUSES OF NON IMMUNE HYDROPS

A

o Cardiovascular defects
o Chromosomal anomalies
o Fetal anemia

68
Q

In Turner syndrome, abnormalities of lymphatic drainage from the neck may lead to postnuchal fluid accumulation

A

CYSTIC HYGROMAS

69
Q
  • Increased hematopoietic activity accounts for the
    presence in the peripheral circulation of large numbers of immature red cells, including reticulocytes and erythroblasts
A

ERYTHROBLASTOSIS FETALIS

70
Q
  • Most serious threat in fetal hydrops is CNS damage
  • Requires a blood bilirubin level greater than 20 mg/dL
    in term infants
  • Lower threshold in premature infants
A

KERNICTERUS

71
Q

yellow discoloration of the brain parenchyma due to bilirubin accumulation, which is most prominent in the basal ganglia deep to the ventricles.

A

KERNICTERUS

72
Q

PHENYLKETONURIA
AR or AD

A

AUTOSOMAL RECESSIVE

73
Q

what is deficient in PHENYLKETONURIA?

A

PHENYLALANINE HYDROXYLASE

74
Q

caused by severe deficiency of phenylalanine hydroxylase leading to hyperphenylalaninemia which impairs brain development

A

PHENYLKETONURIA

75
Q

strong musty or mousy odor

A

PHENYLKETONURIA

76
Q

elevations of blood phenylalanine levels without associated neurologic damage

A

BENIGN HYPERPHENYLALANINEMIA

77
Q

precursor of melanin, is responsible for the light color of hair and skin.

A

lack of TYROSINE

78
Q

Deficiency in galactose-1-phosphate uridyl transferase (GALT) or galactokinase

A

GALACTOSEMIA

79
Q

what accumulates in galactosemia

A

galactose-1-phosphate

80
Q

what is deficient in galactosemia

A

galactose-1-phosphate uridyl transferase (GALT) or galactokinase

81
Q

GALACTOSEMIA
AR OR AD

A

AUTOSOMAL RECESSIVE

82
Q

inherited disorder of ion transport that affects fluid secretion in exocrine glands and in the epithelial lining of the respiratory, gastrointestinal, and reproductive tracts.

A

CYSTIC FIBROSIS
-or MUCOVISCIDOSIS

83
Q

 Most common lethal genetic disease in Caucasians
 Autosomal recessive inheritance

-decreased reabsorption of NaCl

A

CYSTIC FIBROSIS

84
Q

What is the problem gene in cystic fibrosis

A

CFTR
cystic fibrosis transmembrane conductance regulator gene

on chromosome 7q31.2

85
Q

‘salty sweat”

A

CYSTIC FIBROSIS

86
Q

severe mutations in cystic fibrosis

A

CLASS 1,2,3

87
Q

mild mutations in cystic fibrosis

A

CLASS 4,5,6

88
Q

resulting in infertility in patients with CFTR

A

AZOOSPERMIA

89
Q

Thick viscid plugs of mucus may also be found in the small intestine of infants. Sometimes these cause small- bowel obstruction, known as ____

A

MECONIUM ILEUS

90
Q

if patient died but structural and alternate explanation is found in autopsy

A

Sudden unexpected infant death

91
Q

only given as diagnosis after elimination of any
chromosomal, genetic or structural abnormality on infant

A

SUDDEN INFANT DEATH SYNDROME
SIDS

92
Q

 Leading cause of infant death between 1 month and 1 year of age
 90% during the first 6 months; most between 2 to 4 months

93
Q

SIDS reflects____

A

reflects a delayed development of “arousal” and cardiorespiratory control.

94
Q

-microscopically normal cells or tissues in abnormal locations
o Ex: Finding of pancreatic tissue in gastric submucosa or
anywhere in the GIT

A

HETEROTOPIA /CHORIOSTOMA

95
Q

-excessive, focal overgrowth of cells and tissues native to the organ in which it occurs
o Ex: Lungs – cartilaginous hamartoma

96
Q

o is a normal structure of the lungs (proximal bronchi) however there may be disorganized or focally overgrown tissues present

97
Q

o Most common tumor of infancy
o Mostarelocatedintheskin,particularlyonthefaceand
scalp

A

HEMANGIOMA

98
Q
  • Collection of normal fibrous mesenchymal tissue that are hypocellular
  • Sparsely cellular proliferations of spindle-shaped cells
A

FIBROMATOSIS

99
Q
  • Cellular tumors that are composed of fibrous
    mesenchymal tissue
  • Richly cellular lesions indistinguishable from fibrosarcomas occurring in adults
  • Not just for childhood tumors but sarcomas in general are highly related to specific genetic mutations and translocations.
A

CONGENITAL INFANTILE FIBROSARCOMA

100
Q
  • Chromosomal translocation t(12;15) (p13;q25)
  • Results in generation of an ETV6-NTRK2 fusion
    transcript
A

CONGENITAL INFANTILE FIBROSARCOMA

101
Q

o Mature, immature and malignant teratomas
o Tumorsthatarecomposedofcellsthatarecomingfrom different germ layers: ENDODERMAL, MESODERMAL &
ECTODERMAL origin

102
Q

MOST COMMON MALIGNANT TUMORS

A
  1. Hematologic
  2. CNS (neuroectodermal)
  3. soft tissue
  4. bone
  5. kidney
103
Q

o Most common extracranial solid tumor of childhood
o Most are sporadic; ALK gene mutation in familial cases o Median age at diagnosis is 18 months
o 40% diagnosed at infancy

A

NEUROBLASTOMA

104
Q

o Small, primitive-appearing cells with dark nuclei, scant
cytoplasm and poorly defined cell borders
o Neuropil background

A

NEUROBLASTOMA

105
Q

primitive appearing
cells having small hyperchromatic nuclei with scant
cytoplasm forming rosette surrounding neuropil

A

HOMER-WRIGHT PSEUDOROSETTE

106
Q

larger cells with abundant
cytoplasm, vesicular nuclei and prominent nucleoli

A

GANGLIONEUROBLASTOMA

107
Q

Schwannian stroma: neuritic process,
mature Schwann cells and fibroblasts

A

GANGLIONEUROMA

108
Q

 Most common primary renal tumor of childhood
 Peak incidence is between 2 and 5 years of age

A

WILMS TUMOR

109
Q

oLifetime risk of developing Wilms tumor is
approximately 33%
o Germline deletions of 11p13
o Studies on these patients led to the identification of the
first Wilms tumor–associated gene - WT1
o And a contiguously deleted autosomal dominant gene
for aniridia - PAX6

A

WAGR SYNDROME

110
Q

o Much higher risk for Wilms tumor (~90%)
o Gonadal dysgenesis (male pseudohermaphroditism),
early onset nephropathy leading to renal failure

A

DENYS-DRASH SYNDROME

111
Q

o Dominantnegativemissensemutationinthezinc-finger of the WT1 protein
BI-ALLELIC INACTIVATION OF WT1
increased risk for gonadoblastoma

A

DENYS-DRASH SYNDROME

112
Q

o Organomegaly, macroglossia, hemihypertrophy,
omphalocele, adrenal cytomegaly
o WT2 locus (11p15.5) with loss of imprinting of IGF2
leading to overexpression of the IGF2 protein.

A

BECKWITH-WIEDEMANN SYNDROME

113
Q

normally expressed solely from the paternal allele, and the maternal allele is silenced by imprinting.

114
Q

Classic triphasic combination:
o Blastemal component – ????
o Mesenchymal/Stromal – ????
o Epithelial component – ????

A

Classic triphasic combination:
o Blastemal component – small round blue cell
o Mesenchymal/Stromal – mesenchymal tissue
o Epithelial component – abortive tubules and glomeruli

PATHOLOGY (2nd year) (6 decks)

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