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BKM RC prep > Pediatric path by BKM > Flashcards

Pediatric path by BKM Flashcards

1
Q

Ratio for placentomegaly?

A

Fetal:placental weight

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2
Q

When do fetal nucleated RBCs appear?

When do they disappear?

A

Around 8 weeks

12 weeks

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3
Q

When are fetal nucleated red blood cells normal in later development?

A

Andes mountains and other areas of high elevation

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4
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/010-hp-3-14C0EBCF74D4C908E81.jpg

A

Amnion nodosum

Associated with oligohydramnios

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5
Q

Leading cause of premature birth?

A

Acute chorioamnionitis

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6
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/peds-14C0EC0395709225BDD.jpg

A

Placental listeriosis

Can cause intervillous abscesses and septic infarcts

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7
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/april_2003_-_fig_3-14C0EC16EED3B7F1A21.jpg

A

Candida: microabscesses on surface of umbilical cord

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8
Q

What are TORCH infections?

A

Congenitally acquired infections that cause significant morbidity

  • Toxoplasma
  • Other (syphilis/HIV)
  • Rubella
  • CMV
  • HSV
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9
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/plac085-14C0EC51F544CE9EC5F.jpg

A

CMV villitis (TORCH)

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10
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/20110306-malaria_20cdc_20infected_20placental_malaria-14C0EC6F67F3FBB6803.jpg

A

Placental malaria

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11
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/plac016-14C0EC82A7375710E61.jpg

A

Meconium staining in macrophages

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12
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/plac037-14C0EC991CD4C8AD7F2.jpg

A

Maternal atherosis (fibrinoid necrosis) and smooth muscle hypertrophy of maternal spiral arterioles

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13
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/placental_intervillous_thrombus_01_1-14C0ECB89394DAF9AF1.jpg

A

Intervillous thrombus (fetomaternal hemorrhage)

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14
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/kingbent_401705636492593_intervillous_fibrin_thrombus_placenta_sl_09_37136_20x-14C0ECC31D32B3E8A03.jpg

A

Intervillous thrombus (fetomaternal hemorrhage)

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15
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/peds-14C0ECE90FC3775449E.jpg

A

Massive perivillous fibrin deposition

Associated with HELLP syndrome and recurrent reproductive failure

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16
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/plac014-14C0ECFC1D349DD44DA.jpg

A

Retroperitoneal abruption

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17
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/placental_infarct_-_intermed_mag-14C0ED1A5A232EDD0F3.jpg

A

Placental infarction with ghost villi

20-30% is survivable
Over 15% probably maternal hypertension
Over 50%, consider lupus anticoagulant

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18
Q

Four associations with chorangiosis (>10 capillaries in 10 tertiary villi under 10X)

A

Maternal diabetes
Placentomegaly
Delayed villous maturation
Chronic villitis

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19
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/chorangioma_-_intermed_mag-14C0ED609EC3164E0F8.jpg

A

Chorangioma

Most incidental

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20
Q

What is chorangiomatosis?

A

Diffuse multifocal change associated with extreme prematurity, congential malformations, IUGR, delayed villous maturation, avascular villi

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21
Q

3 pathologic changes in placenta that are associated with fetal neurologic impairment?

A

Severe chorioamnionitis

Extensive avascular villi

Diffuse chorioamnionic hemosiderosis

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22
Q

___% of babies with a single umbilical artery have associated fetal anomalies?

A

20

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23
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/testes_gct_chorioca1-14C0EDEFE1260276E30.jpg

A

Choriocarcinoma

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24
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/uterus_placentalsitetrophoblastictumor3-14C0EE04EB7742D9BB4.jpg

A

Placental site trophoblastic tumor:

Abnormal proliferation of intermediate trophoblast, most behave benignly. Uterine perforation is the major problem.

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25
Q

Embryo is what period?

A

4-8 weeks

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26
Q

What is the difference between a malformation and a deformation?

A

Malformation results from an INTRINSICALLY abnormal developmental process

Deformation is an abnormal shape that results from mechanical forces (like oligohydramnios)

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27
Q

What is the definition of a disruption?

A

Morphologic defect resulting from extrinsic interference (teratogenic malformation, amniotic band)

Not hereditable but can be genetically predisposed

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28
Q

Features of Beckwidth-Weidemann?

A

Placentomegaly
Macroglossia
Omphalocele
Wilm’s tumors/hepatoblastoma

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29
Q

Genetic cause of Beckwidth Weidemann?

A

11p15 Most cases sporadic

Can be rearrangement of gene or uniparental disomy from dad or methylation issue

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30
Q

Inheritance pattern of Alagille’s syndrome?

A

AD

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31
Q

4 features of Alagille’s Syndrome?

A

Paucity of bile ducts causing chronic cholestasis
Pulmonary stenosis
Wide nasal bridge and deep set eyes
Developmental delay

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32
Q

Rocker bottom feet associated with which trisomy?

A

18 (Edwards)

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33
Q

Genetics of Cri-du-chat?

A

5p-

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34
Q

Three most common abnormalities of embryo?

A

Neural tube
Cleft lip
Limb defects

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35
Q

What is a choristoma?

A

Hamartomatous tissue that occurs as heterotopic tissue in a site not native to its site

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36
Q

What percentage of babies with congenital heart defects have additional developmental anomalies?

A

25-45%

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37
Q

Prune belly syndrome associated with what?

A

Obstruction/malformation of the urinary tract and bladder

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38
Q

Three leading caues of mortality data <1 year?

A

Perinatal: IUGR, RDS, birth asphyxia

Congenital anomalies

SIDS

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39
Q

Three leading causes of death in children 1-14 yo?

A
  1. Accidents
  2. Cancer
  3. Congenital anomalies
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40
Q

Preterm?

A

> 38 weeks

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41
Q

Large for gestational age?

A

> 90%ile

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42
Q

Small for gestational age?

A

<10%ile

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43
Q

What % of newborns have a major malformation?

A

3%

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44
Q

What transplacental virus is associated with spontaneous abortion or hydrops fetalis?

A

Parvo B19

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45
Q

Two agents associated with early sepsis?

A

E. coli

Group B strep

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46
Q

Two agents associated with later sepsis due to long latent period?

A

Listeria

Candida

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47
Q

What finding is strongly associated with SIDS?

A

Intrathoracic petechiae (80%)

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48
Q

What condition produces “orange sand in the diaper”?

A

Leich-Nyhan

X linked

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49
Q

Defect in Lesch Nyhan?

A

Hypoxanthine guanine phosphoribosyl transferase (HPRT) screws up purine metabolism

Excess uric acid, de novo purine synthesis

Gout, MR, self mutilation

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50
Q

ADA deficiency causes infection with what major infections?

A

Pseudomonas
Candida
Pneumocystis carinii
Viral

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51
Q

Histologic finding in ADA deficiency?

A

Virtual absence of lymphoid tissue in nodes, spleen, tonsils, and appendix

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52
Q

3 sphingolipidoses?

A

Tay sachs
Niemann Pick
Gaucher’s Disease

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53
Q

Tay sachs deficiency?

Accumulated substrate?

A

Hexosaminidase A

GM2 ganglioside

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54
Q

3 pathologic findings found in Tay Sachs?

A

Enlarged cerebral gyri, narrowing of sucli

Cerebellar and brain stem atrophy

Ballooning giant neurons

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55
Q

Enzyme deficiency in Niemann Pick disease?

Accumulated substance?

A

Sphingomyelinase

Sphingomyelin

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56
Q

Three types of Niemann Pick disease?

A

Type A: Infantile (severe)
Type B: somatic form
Type C: adolescent form

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57
Q

Presentation of Type A Niemann Pick?

A

Hepatosplenomegaly by 6 months

Cherry red spot on macula

Loss of mental/motor functions

Death by third year

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58
Q

Pathology findings in Niemann Pick disease?

A

Enlarged foamy macrophages in bone marrow, spleen, lymph nodes, adrenal, and alveoli of lungs

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59
Q

Deficiency in Gaucher’s disease?

Accumulate substance?

A

beta glucosidase

Glucocerebroside

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60
Q

Three types of Gaucher’s disease?

A

I: reticulendothelial storage (80%)
II: Infantile cerebral form
III: Adolescent form

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61
Q

Presentation of Gaucher’s disease?

A

Hepatosplenomegaly (usually in second decade), bone pain, easy bruising, fever, pneumonia

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62
Q

Pathologic findings in Gaucher’s disease?

A

Enlarged lipid-laden histiocytes (Gaucher’s cells) throughout the reticuloendothelial system

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63
Q

What is one of the main mucopolysaccharidoses?

A

Hurler’s disease

64
Q

Enzyme deficiency in Hurler’s disease?

Accumulated substrate?

A

alpha-L-iduronidase

Heparan and dermatan sulfate

65
Q

Presentation of Hurler’s disease?

A 
Corneal opacity
Dwarfism
Hepatosplenomegaly
Broad nose
MR
Death before 10 years
66
Q

Deficiency of glucose 6 phosphatase causes what?

A

Von gierke’s disease (type I glycogen storage disease)

67
Q

Clinical presentation of Von Gierke’s disease?

A 
Massive hepatomegaly and cirrhosis
Xanthomas
Growth retardation
Bleeding
Hyperuricemia
68
Q

Pathology of Von Gierke’s disease?

A

Pale liver cells, steatosis, excessive glycogen storage in liver and kidney

69
Q

Where is the CF gene?

A

7q31-32

70
Q

Risk factor for tracheoesophageal fistula?

A

Prematurity

71
Q

How often are associated anomalies found in cases of tracheoesophageal fistula?

A

50-70% (GU, GI, CV)

72
Q

What is the most common type of tracheoesophageal fistula?

A

Esophageal atresia with TEF to distal esophageal segment

73
Q

Most frequently occurring cystic lung disease in children?

A

Congenital pulmonary airway malformation

74
Q

What type of congenital pulmonary airway malformation (CPAM) is associated with severe anomalies like renal agenesis?

A

Type 2 (50%)

75
Q

Hirschprung’s disease associated with what gene?

A

RET

76
Q

Meckel diverticulum is remnant of what?

A

Vitelline duct

77
Q

Imperforate anus is associated with other anomalies how often?

A

50% (including VATER association)

78
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/7-14C0F1C50D53500CCEB.jpg

A

Autosomal recessive polycystic kidney disease. Cysts are perpendicular to the capsule

79
Q

What defect is associated with urinary tract obstruction and may have cartilage present?

A

Cystic renal dysplasia

Renal parenchyma shows iimmature mesenchyme surrounding tubules

80
Q

Most common pediatric neoplasia?

A

Leukemia (then CNS)

81
Q

Four most common benign tumors in children?

A

Hemangioma
Lymphangioma
Fibromas
Teratomas

82
Q

5 small round blue cell tumors?

A 
Neuroblastoma
Lymphoma
Rhabdomyosarcoma
Ewing's sarcoma/PNET
Blastemal Wilms
83
Q

IHC for neuroblastoma?

Genetic markers?

A

NSE

N-myc amplification
1p-

84
Q

3 stains for rhabdomyosarcoma?

A

Desmin
Myogenin
MyoD

85
Q

Two Ewings stains?

A

MIC2

CD99

86
Q

Two stains for blastemal wilm’s?

A

Cytokeratin

EMA

87
Q

Genetic markers for alveolar rhabdomyosarcoma?

A

t(2;13)

t(1;13)

88
Q

Genetic marker for embryonal rhabdomyosarcoma?

A

11p15.5 loss

89
Q

Four main types of NHL in children?

A

Lymphoblastic
Burkitt
Nonburkitt (pleomorphic)
Large cell

90
Q

Neuroblastomas typically arise from what?

A

Parasympathetic ganglion in renal hilum

91
Q

What is a neuroblastoma with ganglion cells?

With further differentiation?

A

Ganglioneuroblastoma

Ganglioneuroma

92
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/peds-14C0F2EE2F96B0A669A.jpg

A

Ganglioneuroblastoma

93
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/peds-14C0F3061480374D145.jpg

A

Ganglioneuroma

94
Q

Three types of favorable histology in neuroblastoma?

A
  1. Differentiation toward ganglia
  2. Stroma rich
  3. Low mitotic karyorrhexis index
    - <100 in age 1.5-5
    - <200 in age <1.5
95
Q

Bad px for what neuroblastoma location?

A

Adrenal (50%)

96
Q

How does age reflect prognosis in neuroblastoma?

A

2 Bad

97
Q

Ploidy and prognosis in neuroblastoma?

A

Aneuploid (hyperdiploid or near triploid) good

Diploid or tetraploid bad

98
Q

Genetics and prognosis in neuroblastoma?

A

N-myc amplification over 10 copies: bad

99
Q

> 50% of childhood soft tissue sarcomas are?

A

Rhabdomyosarcomas

100
Q

Three lcoations for embryonal rhabdomyosarcoma?

A

Head and neck

Around eyes

GU tract

101
Q

Px of embryonal vs alveolar RMS?

A

Embryonal better than alveolar

102
Q

What genes are involved in alveolar RMS?

A

PAX3-FOX01a

PAX7-FOX01a

103
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/embryonal_rhabdomyosarcoma_histo_3-14C0F36B76A385CD896.jpg

A

Embryonal RMS

104
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/alveolar_rhabdomyosarcoma_histo_1-14C0F3742B6168FB8E6.jpg

A

Alveolar rhabdomyosarcoma

105
Q

What other small round tumor can stain for CD99 when looking for Ewing/PNET?

A

ALL

106
Q

Three elements of a Wilm’s tumor?

A
  1. Blastema: small blue cells
  2. Epithelial: tubular and glomeruloid
  3. Meschyme: spinded tissue and mesenchymal elements like mature striated muscle
107
Q

Cortical rind on imaging?

A

Nephroblastomatosis

NOT Wilm’s but looks like it histologically. Benign.

108
Q

Four basic patterns of Wilms Tumor?

A

Mixed (Majority)
Bastemal predominant
Epithelial predominant
Stromal predominant

109
Q

Bad prognosis in Wilms Tumor?

A

Anaplasia

Nuclear diameters three times the size of a neighboring cell of the same type. Also atypical mitotic figures.

110
Q

Genetic difference between WAGR and Denys-Drash?

A

The 11p13 mutation affects DNA binding to WT1 in DD. In WAGR, WT1 is deleted.

111
Q

Two presenting features of Denys Drash?

A

Gonadal dysgenesis

Nephropathy

112
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/clear_cell_sarcoma_-_very_high_mag-14C0F3F895528FD332D.jpg

A

Clear cell sarcoma of kidney (Bone metastasizing tumor)

113
Q

What is it?

What has the same genetic mutation?

A

Rhabdoid tumor

Atypical teratoid rhabdoid tumor of brain (15%)

114
Q

What mutation?

A

t(12;15)
ETVt-NTRK3

Mesoblastic nephroma (well circumscribed proliferation of spindled cells)

115
Q

Two lesions containing the t(12;15) ETVt-NTRK3 mutation?

A

Mesoblastic nephroma

Infantile fibrosarcoma

116
Q

Rb gene is where?

A

13q14

117
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/png/1crgr130mvz5y47fs07b-w_m-14C0F45BF6064A99D03.png

A

Retinoblastoma (Flexner-Wintersteiner rosettes)

118
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/desmoplasticsmallroundbluecelltumor14-14C0F46DEB9421E0F0C.jpg

A

Desmoplastic small round cell tumor

T(11;22), EWS-WT1, different breakpoints than Ewings

119
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/gliageek_atypical_20teratoid_20tumor_20x400-14C0F4F5708142CDE78.jpg

A

Atypical teratoid/rhabdoid tumor

120
Q

What do you want to look for in Atypical teratoid/rhabdoid tumor?

A

Loss of INI1

121
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/7-17bl-14C0F50FCB65D560772.jpg

A

Medulloblastoma

122
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/1134815-1157758-231-14C0F51D29B4475792D.jpg

A

Adamantinomatous craniopharyngioma

123
Q

Top three primary hepatic neoplasms in children?

A

Hepatoblastoma
HCC
Infantile hemangioendothelioma

124
Q

Hepatoblastomas usually occur where?

A

Unifocally from right lobe of liver

125
Q

What two syndromes are associated with hepatoblastomas?

A

Beckwith-Wiedemann

FAP

126
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/liver_hepatoblastoma5_fetalpattern-14C0F56CF1B6BDB4203.jpg

A

Hepatoblastoma, epithelial type (six different types)

127
Q

Most common trisomy in abortuses?

A

Trisomy 16

128
Q

Polydactyly common in which trisomy?

A

Tri 13

129
Q

What is the most common terminal deletion syndrome?

A

Del 5p (cri du chat)

130
Q

How to remember DiGeorge syndrome/velocardiofacial syndrome?

A

CATCH 22

Cardiac, Abnormal face, T cell deficit, cleft palate, hypocalcemia 22q11 microdeletion

131
Q

CP concern with DiGeorge syndrome?

A

Irradiated blood products. T cell defect increases chance of transfusion related GVHD

132
Q

Only mucopolysaccharidosis that isn’t autosomal recessive?

A

Hunter’s (X linked recessive)

133
Q

Hurler syndrome deficiency

A

α-L-iduronidase deficiency

134
Q

Three organisms that cause recurrent infections in cystic fibrosis?

A

S. aureus
P. aeruginosa
Burkholderia cepacia

135
Q

Characteristic finding in males with cystic fibrosis?

A

absent vas

136
Q

What is maternal PKU?

A

Mothers with PKU who are not diet restricted during pregnancy have heterozygote infants with mental retardation, microcephaly, and congenital heart disease

137
Q

What is the Guthrie test?

A

Test for PKU, preferably 48-72 hours after birth, that depends on a bacillus bacteria that becomes more active in the presence of excess phenylalanine

138
Q

What are the 6 cyanotic congenital heart diseases? (that cause right to left shunt)?

A 
Tetrology
Transposition
Total anomalous pulmonary venous return
Tricuspid atresia/stenosis
Truncus arteriosus
Pulmonary stenosis
139
Q

6 Acyanotic congenital heart diseases that cause a left to right shunt?

A 
Atrial stenosis
ASD
VSD
PDA
Hypoplastic left heart
Coarctation
140
Q

Most common cyanotic heart disease?

A 
tetrology of fallot
 Pulmonary stenosis
 Overriding aorta
 VSD
   (which cause) right ventricular hypertrophy
141
Q

Metabolic defect in pyloric stenosis?

Presentation?

A

Hypochloremic alkalosis

First born boy with projectile vomiting

142
Q

Most common cause of hydrops fetalis?

Two others?

A

Thalassemia

Twin-twin transfusion
Chronic fetomaternal hemorrhage

143
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/peri136-14C7B23EA976157B0A8.jpg

A

Adrenal cytomegaly in Beckwith-Wiedemann syndrome

Not a neoplasm

144
Q

Where does the intraventricular hemorrhage of prematurity come from?

A

Germinal matrix; high blood flow, fragile vessels

Increased venous pressure due to underlying immature lung disease

145
Q

Most common part of the gut affected by necrotizing enterocolitis?

A

ileocecal region

146
Q

https://s3.amazonaws.com/classconnection/76/flashcards/7519076/jpg/monochorionic_diamniotic_twins__intervening_membrane-14C7B2C9AB84CD0F73F.jpg

A

Diamniotic monochorionic

147
Q

When does twin-twin transfusion overwhelmingly occur?

A

In DiMo pregnancies. Virtually unheard of in DiDi and MoMo

148
Q

Asymmetric IUGR mostly caused by?

A

Maternal factors (vascular disease, drugs, cigarettes)

Head is spared

149
Q

Symmetric IUGR mostly caused by?

A

Fetal causes: chromosomes, infections, early uterine injury

150
Q

Most common pediatric tumor?

A

Hemangioma

151
Q

What is Kasabach-Merritt syndrome?

A

Infant with large hemangioma sufficient to cause thrombocytopenia, anemia, splenomegaly, purpura, and even death

152
Q

Staining profile for rhabdomyosarcoma? (6)

A 
Sarcomeric actin
Desmin
Myosin
Myoglobin
Nuclear myogenin
MYOD1
153
Q

5 positive stains in Wilm’s Tumor?

A 
WT1
CD56
Vimentin
Desmin
MyoD1
154
Q

Most common place for WT to metastasize?

A

Lungs

155
Q

What do neuroblastomas secrete?

A

Catecholamines

156
Q

Most common congenital malignancy?

A

Cutaneous metastatic nodules of congenital neuroblastoma “blueberry muffin” baby

3-7% involute with necrosis, maturation to ganglioneuroma

157
Q

What is the most common mesenchymal tumor of the liver in childhood?

A

Infantile hemangioendothelioma

BKM RC prep (2 decks)

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