Diseases of Infancy and Childhood IV Flashcards Preview

PBD II Exam 1 > Diseases of Infancy and Childhood IV > Flashcards

Flashcards in Diseases of Infancy and Childhood IV Deck (76):
1

SIDS

yes, cause of death
prior to 1 year of age**

unexplained death after autopsy, review of death scene, and review of clinical history

diagnosis of exclusion

2

leading cause of death between 1 month and 1 year

SIDS

3

most occurence of SIDS

between 2 - 4 months old

4

ALTE

apnea, change in color, choking

increased risk for SIDS

5

environmental risk factors for SIDS

prone or side sleeping
co-sleeping
hyperthermia

6

infant risk factors for SIDS

brainstem abnormality - resp center
prematurity
male
multiple birth
prior SIDS sibling

7

maternal risk for SIDS

young age
smoking
drug abuse - either parent
no prenatal care
low socioeconomic status

8

postmortem findings in cases of sudden infant death

not SIDS
-viral myocarditis
-conenital anomaly
-child abuse
-long QT syndrome
-bronchopneumonia
-aortic stenosis

9

rolling over and killing baby

only with intoxicated parents

10

SIDS postmortem findings

most common - petechiae
-thymus, parietal pleura, epicardium

-congested lungs

-CNS astrogliosis

-hypoplasia of arcuate nucleus

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triple risk model for SIDS

vulnerable infant
critical development period
exogenous stressor

12

serotonergic 5-HT system

in medulla
-involved in arousal
-abnormalities here may be basis of SIDS

-also - laryngeal chemoreceptors that inhibit resp centers

13

choristoma

normal cells in abnormal location

14

hamartoma

overgrowth of cells native to organ

15

most common benign tumor of infancy

hemangioma
-most go away over time

skin, face, scalp

aka port-wine stains

maybe present with VHL disease

16

lymphangiomas

hamartomas or neoplastic

17

lymphangiectasis

dilation of lymph channels

diffuse swelling of extremity

18

lymph tumors in children

often in deep neck
-typically benign

19

ETV6-NTRK3

fusion transcript present in congenital-infantile fibrosarcomas

useful diagnostic marker

20

mature teratoma

benign

21

immature teratoma

malignant

22

2 peaks of teratomas in children

first at 2 years of age
-congenital neoplasma

second in late adolescence
-slower growing

23

sacrococcygeal teratoma

most common teratomas in children
-more often in female (4:1)

-majority are benign
-but malignant are highly aggressive

benign - usually infants less than 4 months

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fibrosarcomas

bad prognosis in adults
-congenital-infantile variant has better prognosis

-presence of EVT6-NTRK3 fusion transcript

25

most deaths in children under age 15

leukemias

26

small round blue cell tumors

sheets of cells with small, round nuclei, and frequently show features of organogenesis specific to site of tumor origin

"-blastoma"

27

malignant neoplasms 0-4 years

leukemia
retinoblastoma
neuroblastoma
hepatmblastoma
wilms tumor
soft tissue sarcoma (rhabdo)
teratomas
CNS tumors

28

malignant tumors 5-9 years

leukemia
retinoblastoma
neuroblastoma
hepatocellular carcinoma
soft tissue sarcoma
CNS tumor
ewing sarcoma
lymphoma

29

period for wilms tumor

0-4 years

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eriod for teratomas

0-4 years

31

malignant tumors 10-14 years

hepatocellular carcinoma
soft tissue carcinoma
osteogenic sarcoma
thyroid carcinoma
hodgkin disease

32

neuroblastoma

most common extracranial solid tumor of childhood
-normal age at Dx 18 months
-most sporadic
-familial - bilateral or multifocal

33

genetic predisposition to neuroblastoma

ALK
-anaplastic lymphoma kinase

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good prognosis for neuroblastoma

less than 18 months old
stage 1, 2A, 2B, 4S
presence of schwannan stroma
hyperdiploid or neartriploid
TRKA presence
no N-myc

35

TRKB

bad prognosis for neuroblastoma

36

older than 18 months

bad prognosis for neuroblastoma

37

N-MYC amplification

bad prognosis for neuroblastoma

trumps out all other good prognostic factors

38

near-diplid

bad prognosis for neuroblastoma

39

stage 3, 4

bad prognosis for neuroblastoma

40

catecholamine release

from neuroblastoma
-but does not cause increased blood pressure

41

pheochromocytoma

releases catecholamines
-but DOES cause increased blood pressure and HTN

42

neuropil

neuritic processes
-in neuroblastomas

43

homer-wright pseudorosettes

seen in neuroblastoma
-tumor cells around central space of neuropil

44

presence of schwannian stroma

maturation of neuroblasts to ganglion cells

prerequisite for designation of ganglioneuroblastoma or gaglioneuroma

good prognosis

45

ganglioneuroblastoma

ganglion cells and neuroblasts

46

ganglioneuroma

large mature ganglion cells with little to no neuroblasts

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stage 4S

localized primary tumor with dissemination to skin, liver, bone marrow

infants younger than 1 year

seen to regress

48

stage 1

localized with complete resection and negative ispi nodes

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stage 2A

localized with incomplete gross resection with negative ipsi nodes

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stage 2B

localized with positive ipsi nodes

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stage 3

infiltrating across midline

or localized with contra nodes

52

stage 4

primary tumor with dissemination to distant nodes, bone, bone marrow, liver, skin, etc.

53

presentation of neuroblastoma

large abdomen mass
fever
weigt loss

proptosis (periorbital met)
ecchymosis

blueberry muffin baby - cutaneous mets

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diagnosis of neuroblastoma

increased in serum catecholamines

increased in urine VMA and HVA

55

chromosomes with negative prognosis

17q gain
1p loss
11q loss

56

wilms tumor

most common primary renal tumor of childhood
-between age 2-5 year old

majority sporadic
minority familial (syndromic)

57

most common malignant

B cell ALL - leukemia

58

familial wilms tumors

if bilateral
-also earlier onset than sporadic

59

WAGR syndrome

wilms tumor, aniridia, genital anomalies, retardation

involves WT1 gene and PAX6

60

aniridia

absence of iris

61

mutation in WAGR syndrome

deletion of 11p13
-WT1 and PAX6 genes

62

WT1

increased susceptibility for wilms tumor

63

PAX6

increased susceptibility for aniridia

64

denys-drash syndrome

gonadal dysgenesis
-similar to WAGR

plus nephropathy and gonadoblastoma

65

gonadoblastoma

in denys-drash syndrome

66

beckwith-wiedemann syndrome

like WAGR and denys-drash

but with asociated hemihypertrophy

increased risk for liver, pancreas, skeletal m blastomas

67

hemihypertrophy

in beckwith-wiedemann

68

genetic of denys drash

dominant-negative missense mutation in zinc finger region of WT1 gene
-affects DNA -binding properties

69

WT1

tumor suppressor gene

70

genetic of beckwith-wiedemann

impronting of band 11p15.5 - WT2

distal to WT1

71

loss of imprinting in wilms

overexpression of IGF-2

72

gain of function mutation in beta-catenin

sporadic wilms tumors

73

nephrogenic rests

precursor lesions to wilms tumor

74

triphasic in wilms

blastemal
stromal
epithelial

75

anaplasia

cells with large, hyperchromatic, pleomorphic nuclei and abnormal mitosis

76

presentation of wilms

large abdominal masses

hematuria

pain

intestine obstruction

HTN

most patients cured
-but secondary tumors may arise - from therapy