1
Q
list the top cause of deaths for children under 1 year
A
congenital malformation, deformations, chromosomal abnormalities
2
Q
list the top cause of death for children 1-14
A
accidents
3
Q
____ is swelling of the infant’s scalp
A
caput succedaneum is swelling of the infant’s scalp
4
Q
____ is the most commonly fractured bone during labor
A
the clavicle is the most commonly fractured bone during labor
5
Q
____ is the most common chromosomal disorder
A
Down syndrome (trisomy 21) is the most common chromosomal disorder
6
Q
_____ has a strong influence on the incidence of Down syndrome
A
maternal age has a strong influence on the incidence of Down syndrome
7
Q
Down syndrome patients have a higher risk of ____ and ____
A
Down syndrome patients have a higher risk of ALL and Alzheimers
8
Q
describe the clinical features in Down syndrome
A
9
Q
Turner syndrome occurs due to partial or complete ____
A
Turner syndrome occurs due to partial or complete monosomy of genes on the short arm of the X chromosome
10
Q
list the clinical features of Turner syndrome
A
11
Q
list the 2 cardiovascular malformations seen in Turner syndrome patients
A
coarctation of the aorta
bicuspid aortic valve
12
Q
____ is the most common cause of hypogonadism in males
A
Klinefelter syndrome is the most common cause of hypogonadism in males
13
Q
list the clinical features of Klinefelter syndrome
A
14
Q
Klinefelter patients are prone to develop which 3 conditions?
A
breast cancer
extragonadal germ cell tumors
autoimmune diseases
15
Q
describe 22q11.2 deletion syndrome
A
16
Q
PDA, cataracts, microcephaly and sensory neural deafness
dx?
A
Rubella
17
Q
“encephalopathy, retinopathy, hydrocephalus”
dx?
A
Toxoplasmosis
18
Q
“facial abnormalities, including Hutchinson teeth, saber shins”
dx?
A
Syphilis
19
Q
describe a malformation
A
primary structural abnormality with poor formation of tissue d/t a localized error that occurs during development (intrinsically abnormal developmental process)
- polydactyly
- cleft lip
20
Q
describe a disruption
A
caused by secondary destruction of a previously normally formed part d/t an extrinsic disturbance
-amniotic bands
21
Q
describe deformation
name maternal and fetal examples
A
localized or generalized compression of the growing fetus by abnormal biomechanical forces
22
Q
_____ is the most common cause of deformation
A
uterine constraint is the most common cause of deformation
23
Q
describe a sequence
A
multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis
ex: Potter sequence (oligohydramnios sequence)
24
Q
a defect in Sonic Hedgehog Gene (SHH) causes ____
A
a defect in Sonic Hedgehog Gene (SHH) causes holoprosencephaly
25
homeobox gene defect causes \_\_\_, ___ and ____ abnormalities
homeobox gene defect causes **limb**, **vertebral** and **craniofacial** abnormalities
26
\_\_\_\_ can mimic homeobox gene defects
**valproic acid** can mimic homeobox gene defects
27
\_\_\_ causes CNS, cardiac and craniofacial abnormalities including cleft lip and palate
**retinoic acid** (for acne) causes CNS, cardiac and craniofacial abnormalities including cleft lip and palate
28
retinoic acid interferes with ____ pathway which is involved in \_\_\_\_
retinoic acid interferes with **TGFB signaling** pathway which is involved in **palatogenesis**
29
describe the correlation between APGAR score and mortality during the first 28 days
30
the 1-minute APGAR score determines \_\_\_\_
while
the 5-minute APGAR score assess \_\_\_\_\_
the 1-minute APGAR score determines **how well the baby tolerated the birthing process**
while
the 5-minute APGAR score assesses **how well the newborn is adapting to the new environment**
31
respiratory distress syndrome (RDS) occurs due to decreased \_\_\_\_
respiratory distress syndrome (RDS) occurs due to decreased **surfactant**
32
list risk factors for respiratory distress syndrome
* prematurity
* perinatal asphyxia
* maternal diabetes
* Cesarean section before onset of labor
* twin gestation
* male sex
33
in respiratory distress syndrome, a typical x-ray image would show \_\_\_\_
in respiratory distress syndrome, a typical x-ray image would show **ground glass alterations of the lung**
34
list methods to prevent respiratory distress syndrome
35
describe 2 complications of oxygen therapy in neonates with RDS
* **retrolental fibroplasia** = retinopathy of d/t O2 toxicity & VEGF
* **bronchopulmonary dysplasia** = arrested development of alveolar septation at saccular stage of development → dysmorphic capillary configuration
36
list 3 methods to prevent bronchopulmonary dysplasia
gentler ventilation
glucocorticoids
prophylactic surfactant
37
list predisposing factors for neonatal necrotizing enterocolitis (NEC)
intestinal ischemia
bacterial colonization of the gut
administration of formula feeds
38
diagnosis of neonatal necrotizing enterocolitis is by abdominal radiographs that show ____ and \_\_\_\_\_
diagnosis of neonatal necrotizing enterocolitis is by abdominal radiographs that show **dilated loops of bowel** and **pneumatosis intestinalis** (presence of air bubbles in wall of intestines)
39
neonatal necrotizing enterocolitis commonly affects which 3 areas?
terminal ileum
cecum
right colon
40
microscopic examination of the bowel in neonatal necrotizing enterocolitis would show \_\_\_\_
microscopic examination of the bowel in neonatal necrotizing enterocolitis would show **mucosal coagulative necrosis extending into and often through the submucosa and muscular layers**
41
list the early complications of neonatal necrotizing enterocolitis
**sepsis**
**shock**
**acute tubular necrosis**
**DIC**
**intestinal perforation**
42
list the delayed complications of neonatal necrotizing enterocolitis
**short gut syndrome**
**malabsorption**
**strictures**
43
in neonatal intraventricular hemorrhage, there is bleeding into \_\_\_\_
in neonatal intraventricular hemorrhage, there is bleeding into **the germinal matrix with extension into ventricles and beyond**
germinal matrix = source of nerve cells in embryo and fetus (up to 33 weeks of gestation)
44
in neonatal intraventricular hemorrhage, there is rapid death if there is massive hemorrhage with tears of \_\_\_\_
in neonatal intraventricular hemorrhage, there is rapid death if there is massive hemorrhage with tears of **falx cerebri or tentorium**
45
in long term survivors of neonatal intraventricular hemorrhage, there are cavitations or ___ surrounded by \_\_\_\_
in long-term survivors of neonatal intraventricular hemorrhage, there are cavitations or **pseudocysts** surrounded by **hemosiderin-laden macrophages** and **gliosis**
46
\_\_\_\_ is seen in survivors of neonatal intraventricular hemorrhage
**hydrocephalus** is seen in survivors of neonatal intraventricular hemorrhage
47
there is elevated ____ bilirubin during the first week of life
there is elevated **unconjugated** bilirubin during the first week of life
48
describe the 2 phases of physiological jaundice
* **phase I = lasts 5 days in term infants and 7 days in preterm infants**
* serum bilirubin level may reach 12-15 mg/dl
* **phase II = decline of serum bilirubin levels, lasts for 2 weeks**
* after this, normal adults values are reached
49
the most common cause of unconjugated hyperbilirubinemia in neonates is \_\_\_\_
the most common cause of unconjugated hyperbilirubinemia in neonates is **fetomaternal blood group incompatibility (hemolytic disease of newborn)**
50
erythroblastosis fetalis is \_\_\_-induced hemolytic disease in the newborn that is caused by \_\_\_\_
erythroblastosis fetalis is **antibody**-**induced** hemolytic disease in the newborn that is caused by **blood group incompatibility between mother and fetus**
51
in erythroblastosis fetalis, ____ reach maternal circulation in last trimester or during childbirth, where there is sensitization of mother foreign antigens and subsequent development of \_\_\_\_
in erythroblastosis fetalis, **fetal RBCs** reach maternal circulation in last trimester or during childbirth, where there is sensitization of mother foreign antigens and subsequent development of **antibodies that can freely traverse the placenta to the fetus and cause hemolysis**
52
kernicterus occurs when high levels of ___ bind to and injury \_\_\_\_\_
kernicterus occurs when high levels of **unconjugated bilirubin** bind to and injury **the immature neurons of the CNS**
53
\_\_\_\_ can be used to detect high levels of bilirubin
**amniocentesis** can be used to detect high levels of bilirubin
54
Crigler-Najjar type I disease is characterized by ____ of UDP-glucuronosyltransferase activity
Crigler-Najjar type I disease is characterized by **complete absence** of UDP-glucuronosyltransferase activity
55
Crigler-Najjar type II disease is characterized by ____ of UDP-glucuronosyltransferase activity and can be treated with \_\_\_\_
Crigler-Najjar type II disease is characterized by **partial decrease** of UDP-glucuronosyltransferase activity and can be treated with **phenobarbital**
56
biliary atresia is complete _____ within the first 3 months of life
biliary atresia is complete **obstruction of the lumen of the extrahepatic biliary tree** within the first 3 months of life
57
embryonic/fetal type of biliary atresia is due to aberrant \_\_\_\_\_
perinatal type of biliary atresia is due to \_\_\_\_\_
embryonic/fetal type of biliary atresia is due to aberrant **intrauterine development of the extrahepatic biliary tree**
perinatal type of biliary atresia is due to **normally developed biliary tress that is destroyed following birth** (viral induced injury to biliary epi.)
58
the embryonic/fetal type of biliary atresia is associated with congenital anomalies such as ____ and \_\_\_\_
the embryonic/fetal type of biliary atresia is associated with congenital anomalies such as **malrotation of abdominal viscera** and **congenital heart disease**
59
in perinatal biliary atresia, there is inflammation and ___ of the ___ and ___ bile ducts
in perinatal biliary atresia, there is inflammation and **fibrosing stricture** of the **hepatic** and **common** bile ducts
60
in perinatal biliary atresia, there is ___ inflammation of intrahepatic bile ducts and progressive destruction of \_\_\_\_
in perinatal biliary atresia, there is **periductal** inflammation of intrahepatic bile ducts and progressive destruction of **intrahepatic biliary tree**
61
idiopathic neonatal hepatitis excludes which 3 known associated factors?
A1AT def.
extrahepatic biliary atresia
infectious agents (HAV, HBV, HCV)
62
in idiopathic neonatal hepatitis, there is ____ transformation, where some cells may show ____ and ____ degeneration
in idiopathic neonatal hepatitis, there is **giant cell transformation**, where some cells may show **ballooning** and **acidophilic** degeneration
63
Dubin-Johnson syndrome is an autosomal (dominant or recessive?) disorder characterized by chronic or intermittent jaundice and accompanied by a \_\_\_\_\_
Dubin-Johnson syndrome is an **autosomal** **recessive** disorder characterized by **chronic or intermittent jaundice** and accompanied by a **black liver**
64
Dubin-Johnson syndrome is characterized by defective ____ from ___ to \_\_\_\_
Dubin-Johnson syndrome is characterized by defective **transport of conjugated bilirubin** from **hepatocytes** to **canalicular lumen**
65
in Dubin-Johnson syndrome, there is an associated defect in hepatic excretion of \_\_\_\_
in Dubin-Johnson syndrome, there is an associated defect in hepatic excretion of **coproporphyrins**
66
on microscopic examination of Dubin-Johnson syndrome, there is accumulation of coarse, iron free, ____ granules in ____ and ____ cells
on microscopic examination of Dubin-Johnson syndrome, there is accumulation of coarse, iron free, **dark brown** granules in **hepatocytes** and **Kupffer** cells
67
on electron microscopy in Dubin-Johnson syndrome, there is pigmented in ____ and is composed of polymers of \_\_\_\_
on electron microscopy in Dubin-Johnson syndrome, there is pigmented in **lysosomes** and is composed of polymers of **epinephrine metabolites, not bilirubin pigment**
68
Rotor syndrome is due to a defect in ____ with the bilirubin being absorbed \_\_\_\_
Rotor syndrome is due to a defect in **the excretion of conjugated bilirubin into the biliary canaliculi** with the bilirubin being absorbed **into the blood**
69
describe ascending infections that affect the fetus
70
describe fetal infections acquired via the hematogenous route
71
describe the manifestations of a congenital Rubella infection
72
cystic fibrosis is caused by a mutation in ___ on chr. \_\_\_\_
cystic fibrosis is caused by a mutation in **CFTR** on **chr****. 7**
73
recurrent pulmonary infections in CF can result in which 3 pulmonary conditions?
**chronic bronchitis**
**bronchiectasis**
**lung abscesses**
74
in CF patients, ____ occurs due to impaction of ___ in the terminal ileus with subsequent risk of perforation and peritonitis
in CF patients, **meconium ileus** occurs due to impaction of **meconium** in the terminal ileus with subsequent risk of perforation and peritonitis
75
male CF patients are often infertile due to atrophy and fibrosis of the ___ and \_\_\_\_
male CF patients are often infertile due to atrophy and fibrosis of the **vas deferens** and **epididymis**
76
what are 2 clinical clues in a child that suggest cystic fibrosis?
**nasal polyps**
**rectal prolapse**
77
phenylketonuria is characterized by progressive ___ caused by a deficiency of the hepatic enzyme \_\_\_\_
phenylketonuria is characterized by progressive **mental retardation** caused by a deficiency of the hepatic enzyme **phenylalanine hydroxylase**
78
PKU is caused by a ___ mutation in the ___ gene located on chr. \_\_\_\_
PKU is caused by a **point** mutation in the **PAH** gene located on **chr. 12**
79
deficiency of phenylalanine hydroxylase results in ____ and formation of \_\_\_\_; of the 2 ____ causes irreversible brain damage
deficiency of phenylalanine hydroxylase results in **hyperphenylalaninemia** and formation of **phenylketones**; of the 2 **hyperphenylalaninemia** causes irreversible brain damage
80
the hyperphenylalaninemia seen in PKU interferes with ____ and inhibits \_\_\_\_\_
the hyperphenylalaninemia seen in PKU interferes with **amino acid transport system in the brain** and inhibits **the synthesis of neurotransmitters**
81
there is a ____ odor associated with PKU
there is a **mousy/musty** odor associated with PKU
82
galactosemia is an autosomal (dominant or recessive?) condition where there is deficiency of \_\_\_\_
galactosemia is an autosomal **recessive** condition where there is deficiency of **galactose-1-phosphate uridyl transferase** (which catalyzes galactose → glucose)
83
in galactosemia, infants that are fed milk rapidly develop vomiting and diarrhea, then \_\_\_\_, ____ and \_\_\_\_
in galactosemia, infants that are fed milk rapidly develop vomiting and diarrhea, then **hepatosplenomegaly**, **jaundice** and **hypoglycemia**
84
galactosemia can progress to \_\_\_\_
galactosemia can progress to **cirrhosis**
85
a complication of galactosemia is ___ and \_\_\_\_
a complication of galactosemia is **cataracts** and **mental retardation**
86
a risk factor for SIDS in an infant is ___ abnormality associated with defective \_\_\_\_/\_\_\_\_ control
a risk factor for SIDS in an infant is **brainstem** abnormality associated with defective **arousal**/**cardiopulmonary** control
87
environmental risk factors for SIDS is ____ sleep position; name 3 other RFs
environmental risk factors for SIDS is **prone** sleep position
- hyperthermia
- sleeping with parents when \< 3 months
- sleeping on a soft surface
88
describe the triple-risk model for SIDS
1. vulnerable infant (has a RF)
2. critical development period in hemostatic control (arousal and cardiorespiratory)
3. one or more exogenous stressors (hypercarbia/hypoxia/thermal stress)
89
in SIDS, multiple ____ are seen in which 3 locations?
in SIDS, multiple **petechiae** are seen in:
## Footnote
**thymus**
**visceral/parietal pleura**
**epicardium**
90
in SIDS, there is hypoplasia of ____ along with decrease in _____ in some cases
in SIDS, there is hypoplasia of **arcuate nucleus in the brain stem** along with decrease in **brain stem neuronal populations** in some cases
91
how does SIDS affect the lungs?
**congestion +/- pulmonary edema**
92
why do children generally have a better prognosis than adults when it comes to cancers? (2 reasons)
**difference in tumor type between children and adults**
**increased ability of children to tolerate therapy**
93
Down syndrome patients are at increased risk for which cancer?
**acute leukemia**
94
a 13q deletion predisposes children to which cancer?
**retinoblastoma**
95
patients with Wiskott Aldrich syndrome are at increased risk for which cancer?
**lymphoma**
96
pediatric patients with agammaglobulinemia are at increased risk for which cancer?
**acute lymphoblastic leukemia (ALL)**
97
most pediatric tumors have a ____ appearance since they are of ____ origin
most pediatric tumors have a "**small, round blue cells"** appearance since they are of **embryonal** origin
98
neuroblastoma is a poorly differentiated tumor arising from primitive ____ that normally give rise to the ____ and \_\_\_\_
neuroblastoma is a poorly differentiated tumor arising from primitive **neural crest cells** that normally give rise to the **adrenal medulla** and **sympathetic ganglia**
99
a germline mutation in ____ gene causes a familial predisposition to neuroblastoma
a germline mutation in **ALK** gene causes a familial predisposition to neuroblastoma
100
\_\_\_\_ is caused by disseminated neuroblastoma (multiple cutaneous metastasis with deep blue discoloration of the skin)
**blueberry muffin baby** is caused by disseminated neuroblastoma (multiple cutaneous metastasis with deep blue discoloration of the skin)
101
40% of neuroblastomas arise in ____ whereas the remainder arise anywhere along \_\_\_\_
40% of neuroblastomas arise in **the adrenal medulla** whereas the remainder arise anywhere along **the sympathetic chain**
102
on histology of neuroblastoma, there are ____ which are tumor cells that are concentrically arranged about a central space filled with neuropil (no lumen)
on histology of neuroblastoma, there are **Homer-Wright pseudorosettes** which are tumor cells that are concentrically arranged about a central space filled with neuropil (no lumen)
103
neuroblastoma stains positively for ___ and \_\_\_\_
neuroblastoma stains positively for **neuron-specific enolase** and **synaptophysin**
104
neuroblastoma can metastasize early, with spread to:
bone
lymph nodes
liver
BM
subcutaneous tissue
105
x-ray or CT of the abdomen in a patient with neuroblastoma would show \_\_\_\_
x-ray or CT of the abdomen in a patient with neuroblastoma would show **calcification**
106
in a patient with neuroblastoma, there are elevated blood levels of \_\_\_\_
and elevated urine levels of \_\_\_\_
in a patient with neuroblastoma, there are elevated blood levels of **catecholamines**
and elevated urine levels of **catecholamine metabolites (VMA, HVA)**
107
\_\_\_\_ amplification in neuroblastoma has a poor prognosis
**MYCN** amplification in neuroblastoma has a poor prognosis
108
list poor prognostic indicators in neuroblastoma
poor prognostic indicators:
## Footnote
**MYCN amplification**
**deletion distal 1p and gain of distal 17q**
**telomerase overexpression**
109
in neuroblastoma, increased expression of ____ indicates good prognosis
in neuroblastoma, increased expression of **tyrosine kinase receptor A (Trk-A, neurotrophin receptor)** indicates good prognosis
110
nephroblastoma is a malignant embryonal neoplasm derived from \_\_\_\_
nephroblastoma is a malignant embryonal neoplasm derived from **nephrogenic blastemal cells**
111
\_\_\_\_ are associated with Beckwith-Wiedemann syndrome which is caused by a mutation of ____ gene
**nephroblastomas** are associated with Beckwith-Wiedemann syndrome which is caused by a mutation of **WT2** gene
112
nephroblastomas are associated with ____ which is a dominant, negative inactivating mutation of \_\_\_\_
nephroblastomas are associated with **Denys-Drash syndrome** which is a dominant, negative inactivating mutation of **WT1**
113
nephroblastomas are associated with ____ syndrome, which is a deletion of ___ gene
nephroblastomas are associated with **WAGR** syndrome, which is a deletion of **WT1** gene
114
nephroblastomas can be caused by mutations in ____ gene which accounts for 10% of the sporadic cases
nephroblastomas can be caused by mutations in **B-catenin** gene which accounts for 10% of the sporadic cases
115
describe the triphasic pattern of Wilm's tumor
blastema = sheets of small round blue cells
stroma = fibrocytic or myxoid in nature, may have striated muscle
epithelium = abortive tubules and glomeruli
116
list common presentations of Wilm's tumor
**abdominal pain**
**hematuria**
**HTN**
**acute abdominal crisis secondary to traumatic rupture**
117
describe the pattern of metastasis of Wilm's tumor
"3 L's"
-**regional LNs**
**-lungs**
**-liver**
118
describe the presentation of retinoblastoma
white pupil = leukocoria
squint = strabismus
poor vision
spontaneous hyphema = hemorrhage into the anterior portion of the eye
119
on histology of retinoblastoma, there are ____ which are clusters of cuboidal tumor cells arranged around a central lumen
on histology of retinoblastoma, there are **Flexner-Wintersteiner rosettes (TRUE rosettes)** which are clusters of cuboidal tumor cells arranged around a central lumen
120
retinoblastoma can extend into ___ nerve and/or ____ space (\_\_\_) with intracranial spread
retinoblastoma can extend into **optic** nerve and/or **subarachnoid** **space** (**CSF**) with intracranial spread
121
retinoblastomas can invade ___ especially the highly vascular ____ with subsequent ____ metastases
retinoblastomas can invade **blood vessels** especially the highly vascular **choroid** with subsequent **hematogenous** metastases
122
a frequent complication of retinoblastoma is \_\_\_\_\_
a frequent complication of retinoblastoma is **secondary glaucoma**
123
in inherited retinoblastomas, patients have an increased susceptibility to which 3 other tumors?
**osteosarcoma**
**Ewing sarcoma/PNET**
**pinealoblastoma**
Path Exam 4
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