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
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
3
Q
-extrinsic disturbance of development
-abnormal biomechanical forces leading to structural abnormalities
A
DEFORMATION
4
Q
Anencephaly
Congenital heart disease
A
MALFORMATION
5
Q
Amniotic bands compression parts of fetus
A
DISRUPTION
6
Q
Club feet Facial deformations
A
DEFORMATION
7
Q
cascade of anomalies triggered by one initiating aberration
A
SEQUENCE
8
Q
constellation of congenital anomalies that cannot be explained on the basis of a single, localized, initiating defect
A
MALFORMATION SYNDROME
9
Q
complete absence of an organ and its associated primordium
A
AGENESIS
10
Q
absence of an organ but one that occurs due to failure of growth of the existing primordium
A
APLASIA
11
Q
absence of an opening
A
ATRESIA
12
Q
Oligohydramnios
Potter sequence -(Renal, lung and form abnormalities)
A
SEQUENCE
13
Q
Congenital rubella syndrome
A
MALFORMATION SYNDROME
14
Q
cutis congenita
A
APLASIA
15
Q
most common Tracheoesophageal atresia
-atretic proximal esophagus with associated fistula between trachea and distal esophagus
A
TYPE C
16
Q
incomplete development or decreased size of an organ with decreased numbers of cells
A
HYPOPLASIA
17
Q
enlargement of an organ due to increased numbers of cells
A
HYPERPLASIA
18
Q
increase in the size
A
HYPERTROPHY
19
Q
decrease in the size
A
HYPOTROPHY
20
Q
abnormal organization of cells
group of tissues abnormally disorganized
A
DYSPLASIA
21
Q
one or more extra digits
A
POLYDACTYLY
22
Q
fusion of digits
have little functional consequence when they occur in isolation
A
SYNDACTYLY
23
Q
(crooked) defective angulation of finger
A
CLINODACTYLY
24
Q
compatible with life when it occurs as an isolated anomaly
A
CLEFT LIP, with or without associated CLEFT
PALATE
25
result of genetic mutations on the SONIC HEDGEHOG PATHWAY
(responsible in development of central or axial facial structures)
CYCLOPIA
MIDLINE FACIAL ABNORMALITY
26
CAUSES OF ANOMALIES
Most common cause: unknown
40-60%
27
CAUSES OF ANOMALIES
Most commonly known causes: multifactorial
20-25%
28
CAUSES OF CONGENITAL ANOMALIES
Chromosomal aberrations
10-15%
29
CAUSES OF CONGENITAL ANOMALIES
Mendelian inheritance
2-10%
30
Chromosomal aberrations - usual anomalies resulting from hyperploidy
Trisomy 21, 18, 13
31
Maternal/Placental infections
TORCH infections
32
Thalidomide
phocomelia/amelia
33
Varying degrees of microcephaly, small eye opening, lack of philtrum, no nasal bridge
FETAL ALCOHOL SYNDROME
34
Fetal macrosomia, cardiac anomalies, neural tube defects, CNS abnormalities
DIABETIC EMBRYOPATHY
35
Embryo most susceptible to abortion during early embryonic period
first 3 weeks post fertilization
36
extremely susceptible to different abnormalities
3rd – 9th week
37
peak susceptibility (most susceptible to teratogenic effects)
4th – 5th week
38
period of organogenesis
9 weeks and after
39
inhibitor of Hedgehog signaling;
holoprosencephaly and cyclopia
Cyclopamine
40
homeobox (HOX) proteins; limb,
vertebrae and craniofacial defects
Valproic acid
41
important for cell differentiation and maturation
eye, GU, cardiovascular,
diaphragm, lung malformation
Vitamin A deficiency
42
deregulation of TGF-B signaling pathway; CNS, cardiac and craniofacial defects
Retinoic acid embryopathy
43
Less than 37 weeks AOG
Second most common cause of neonatal mortality
PREMATURITY
44
Second most common cause of neonatal mortality
PREMATURITY
45
Inflammation of the umbilical cord. Presence of nodules pointed by arrow.
FUNISITIS
46
Presence of inflammatory cells infiltrating the chorion and the amnion.
CHORIOAMNIONITIS
47
Presence of clue cells covered by coxoid microorganisms.
BACTERIAL VAGINOSIS
48
Pulmonary immaturity and surfactant deficiency
NEONATAL RDS (HYALINE MEMBRANE DISEASE)
49
NEONATAL RDS (HYALINE MEMBRANE DISEASE)
Usually for innate immunity
SP-A
SP-D
50
NEONATAL RDS (HYALINE MEMBRANE DISEASE)
responsible for reduction of surface
tension
SP-B
SP-C
51
modulated by cortisol, insulin, PRL, thyroxine and TGF-B; increased by labor
SURFACTANT SYNTHESIS
52
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)
NEONATAL RDS (HYALINE MEMBRANE DISEASE)
53
COMPLICATIONS
-Retinopathy of prematurity
-Bronchopulmonary dysplasia
NEONATAL RDS (HYALINE MEMBRANE DISEASE)
54
SMALL for gestational Age
SGA
less than 2,500
55
SMALL for GESTATIONAL AGE
SGA
less than 2,500 grams
56
Occurs in 1 in 10 very-low-birth-weight infants
Prematurity, alteration in the microbiome on enteral
feeding
Platelet activating factor - increase mucosal permeability
NECROTIZING ENTEROCOLITIS
57
NECROTIZING ENTEROCOLITIS
affects the
___
___
___
-terminal ileum
-cecum
-right colon
58
preterm birth may be related to damage and rupture of amniotic sac or induction of labor by prostaglandins
o Pneumonia, sepsis, meningitis
TRANSCERVICAL ( ASCENDING) INFECTIONS
59
mostcomon causeof PERINATAL INFECTIONS
GROUP B STREPTOCOCCUS
60
Examples of transplacental (hematologic) infections
PARVOVIRUS 19
TORCH infections
- (taxoplasmosis, other-syphilis, hepB, rubella, megalovirus, herpes simplex)
61
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.
PARVOVIRUS B19
- extreme end result = bone marrow aplasia/ red cell aplasia
62
in TORCH infections
early onset sepsis = ?
late onset sespsis= ?
early onset sepsis = first 7 days (GBS)
late onset sespsis= 7to 3 months (listeria and candida)
63
Accumulation of edema fluid in the fetus during intrauterine growth
FETAL HYDROPS
64
2 TYPES OF FETAL HYDROPS
IMMUNE HYDROPS
NON IMMUNE HYDROPS
65
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
IMMUNE HYDROPS
66
Hemolytic disease develops only when the mother
has experienced a significant transplacental bleed
(>1mL of Rh-positive fetal red cells)
IMMUNE HYDROPS
67
3 MAJOR CAUSES OF NON IMMUNE HYDROPS
o Cardiovascular defects
o Chromosomal anomalies
o Fetal anemia
68
In Turner syndrome, abnormalities of lymphatic drainage from the neck may lead to postnuchal fluid accumulation
CYSTIC HYGROMAS
69
- Increased hematopoietic activity accounts for the
presence in the peripheral circulation of large numbers of immature red cells, including reticulocytes and erythroblasts
ERYTHROBLASTOSIS FETALIS
70
- 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
KERNICTERUS
71
yellow discoloration of the brain parenchyma due to bilirubin accumulation, which is most prominent in the basal ganglia deep to the ventricles.
KERNICTERUS
72
PHENYLKETONURIA
AR or AD
AUTOSOMAL RECESSIVE
73
what is deficient in PHENYLKETONURIA?
PHENYLALANINE HYDROXYLASE
74
caused by severe deficiency of phenylalanine hydroxylase leading to hyperphenylalaninemia which impairs brain development
PHENYLKETONURIA
75
strong musty or mousy odor
PHENYLKETONURIA
76
elevations of blood phenylalanine levels without associated neurologic damage
BENIGN HYPERPHENYLALANINEMIA
77
precursor of melanin, is responsible for the light color of hair and skin.
lack of TYROSINE
78
Deficiency in galactose-1-phosphate uridyl transferase (GALT) or galactokinase
GALACTOSEMIA
79
what accumulates in galactosemia
galactose-1-phosphate
80
what is deficient in galactosemia
galactose-1-phosphate uridyl transferase (GALT) or galactokinase
81
GALACTOSEMIA
AR OR AD
AUTOSOMAL RECESSIVE
82
inherited disorder of ion transport that affects fluid secretion in exocrine glands and in the epithelial lining of the respiratory, gastrointestinal, and reproductive tracts.
CYSTIC FIBROSIS
-or MUCOVISCIDOSIS
83
Most common lethal genetic disease in Caucasians
Autosomal recessive inheritance
-decreased reabsorption of NaCl
CYSTIC FIBROSIS
84
What is the problem gene in cystic fibrosis
CFTR
cystic fibrosis transmembrane conductance regulator gene
on chromosome 7q31.2
85
‘salty sweat”
CYSTIC FIBROSIS
86
severe mutations in cystic fibrosis
CLASS 1,2,3
87
mild mutations in cystic fibrosis
CLASS 4,5,6
88
resulting in infertility in patients with CFTR
AZOOSPERMIA
89
Thick viscid plugs of mucus may also be found in the small intestine of infants. Sometimes these cause small- bowel obstruction, known as ____
MECONIUM ILEUS
90
if patient died but structural and alternate explanation is found in autopsy
Sudden unexpected infant death
91
only given as diagnosis after elimination of any
chromosomal, genetic or structural abnormality on infant
SUDDEN INFANT DEATH SYNDROME
SIDS
92
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
SIDS
93
SIDS reflects____
reflects a delayed development of “arousal” and cardiorespiratory control.
94
-microscopically normal cells or tissues in abnormal locations
o Ex: Finding of pancreatic tissue in gastric submucosa or
anywhere in the GIT
HETEROTOPIA /CHORIOSTOMA
95
-excessive, focal overgrowth of cells and tissues native to the organ in which it occurs
o Ex: Lungs – cartilaginous hamartoma
HAMARTOMA
96
o is a normal structure of the lungs (proximal bronchi) however there may be disorganized or focally overgrown tissues present
HAMARTOMA
97
o Most common tumor of infancy
o Mostarelocatedintheskin,particularlyonthefaceand
scalp
HEMANGIOMA
98
- Collection of normal fibrous mesenchymal tissue that are hypocellular
- Sparsely cellular proliferations of spindle-shaped cells
FIBROMATOSIS
99
- 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.
CONGENITAL INFANTILE FIBROSARCOMA
100
- Chromosomal translocation t(12;15) (p13;q25)
- Results in generation of an ETV6-NTRK2 fusion
transcript
CONGENITAL INFANTILE FIBROSARCOMA
101
o Mature, immature and malignant teratomas
o Tumorsthatarecomposedofcellsthatarecomingfrom different germ layers: ENDODERMAL, MESODERMAL &
ECTODERMAL origin
TERATOMA
102
MOST COMMON MALIGNANT TUMORS
1. Hematologic
2. CNS (neuroectodermal)
3. soft tissue
4. bone
5. kidney
103
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
NEUROBLASTOMA
104
o Small, primitive-appearing cells with dark nuclei, scant
cytoplasm and poorly defined cell borders
o Neuropil background
NEUROBLASTOMA
105
primitive appearing
cells having small hyperchromatic nuclei with scant
cytoplasm forming rosette surrounding neuropil
HOMER-WRIGHT PSEUDOROSETTE
106
larger cells with abundant
cytoplasm, vesicular nuclei and prominent nucleoli
GANGLIONEUROBLASTOMA
107
Schwannian stroma: neuritic process,
mature Schwann cells and fibroblasts
GANGLIONEUROMA
108
Most common primary renal tumor of childhood
Peak incidence is between 2 and 5 years of age
WILMS TUMOR
109
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
WAGR SYNDROME
110
o Much higher risk for Wilms tumor (~90%)
o Gonadal dysgenesis (male pseudohermaphroditism),
early onset nephropathy leading to renal failure
DENYS-DRASH SYNDROME
111
o Dominantnegativemissensemutationinthezinc-finger of the WT1 protein
BI-ALLELIC INACTIVATION OF WT1
increased risk for gonadoblastoma
DENYS-DRASH SYNDROME
112
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.
BECKWITH-WIEDEMANN SYNDROME
113
normally expressed solely from the paternal allele, and the maternal allele is silenced by imprinting.
IGF2
114
Classic triphasic combination:
o Blastemal component – ????
o Mesenchymal/Stromal – ????
o Epithelial component – ????
Classic triphasic combination:
o Blastemal component – small round blue cell
o Mesenchymal/Stromal – mesenchymal tissue
o Epithelial component – abortive tubules and glomeruli
