Pediatrics Brs Chapter 5

Front 1

Define Malformation.

Back 1

intrinsically abnormal process forms abnormal tissue

Front 2

Define Deformation.

Back 2

Mechanical forces cause normal to abnormal

Front 3

Define Disruption.

Back 3

Normal tissue becomes abnormal after being subjected to destructive forces (i.e. ischemia)

Front 4

Define Syndrome.

Back 4

Collection of seemingly unrelated abnormal features occur in a familiar pattern

Front 5

Elevated Alpha Fetoprotein?

Back 5

NTD, multiple gestations, underestimated gestational age, ventral Abdominal wall defect

Front 6

Low Alpha Fetoprotein?

Back 6

overestimated gestational age, Trisomy 21 and 18, IUGR

Front 7

Describe Triple Marker in down's

Back 7

low AFP, low unconj. estriol, high B-HCG

Front 8

Describe Triple Marker in Trisomy 18.

Back 8

all 3 low

Front 9

When can CVS be done?

Back 9

10-13 weeks

Front 10

When can Amniocentesis be done?

Back 10

16-18 weeks

Front 11

Auto Dom defect on Chrom 15/fibrillin with decreased upper to lower segment ratio

Back 11

Marfan Syndrome

Front 12

Cardio Finding in Marfan's

Back 12

Aortic Root Dilatation

Front 13

Often Confused with marfan's and should be R/O

Back 13

Homocystinuria

Front 14

How do you decrease the risk of dissection in Marfan's?

Back 14

B-Blockers and avoid contact sports

Front 15

Obese child with almond like eyes and fishlike mouth, often MR and hypogonadism

Back 15

Prader Willi syndrome (Chr 15)

Front 16

Male version of Turner's with right sided heart defects and pulmonary valve stenosis

Back 16

Noonan Syndrome (Chr 12)

Front 17

Describe Digeorge Syndrome

Back 17

CATCH-22: cardiac abn, abn facies, thymic hypoplasia, cleft palate, hypocalcemia, microdel 22

Front 18

Defective Type V collagen, hyperextensible joints, with minor lacerations that result in large wounds

Back 18

Ehlers-Danlos syndrome

Front 19

Abnormal type 1 collagen, blue sclerae, fragile bones, easily bruised, early conductive hearing loss

Back 19

OI

Front 20

Describe VACTERL.

Back 20

Vertebral defect, anal atresia, cardiac anomalies (VSDs), TracheoEsophageal fistula, renal defects and Limb defects

Front 21

Describe CHARGE.

Back 21

Colobomas, heart defect, atresia of the nasal choanae, retardation of growth and cognition, genital anomalies, ear anomalies

Front 22

Cocktail party elf with MR and loquacious, often with supravalvular AS and idiopathic hypercalcemia

Back 22

Williams Syndrome

Front 23

Single Eyebrow, Microcephaly, FTT, MR, hypotonia

Back 23

Cornelia de Lange Syndrome

Front 24

Micrognatia, cleft lip and palate, recurrent OM, and upper airway obstruction

Back 24

Pierre Robin Syndrome

Front 25

MR with scissoring of LE and rocker bottom feet and overlapping digits

Back 25

Edwards Trisomy 18

Front 26

Holoprosencephaly, MR, micropthalmia, cleft lip and palate

Back 26

Patau Trisomy 13

Front 27

T/F - Turner syndrome should be considered in any female with pubertal delay

Back 27

True

Front 28

Most common inherited cause of MR

Back 28

FRagile X Syndrome

Front 29

Large ears, blue irides, MR, large testes

Back 29

Fragile X

Front 30

Most common cause of male hypogonadism and infertility

Back 30

Klinefelter syndrome

Front 31

T/F - most cases of achondroplasia are sporadic

Back 31

True

Front 32

Serious complication of Achondroplasia

Back 32

Foramen Magnum Stenosis

Front 33

Severe Oligohydraminos can cause lung hypoplasia nd fetal compression with limb and facial abnormalities known as

Back 33

Potter syndrome

Front 34

Most common congenital anomaly of the CNS

Back 34

NTDs

Front 35

Mousey musty odor

Back 35

PKU

Front 36

Sweaty feet

Back 36

isovaleric or glutaric acidemia

Front 37

Rotten cabbage

Back 37

Herediatar tyrosinemia

Front 38

Hypoglycemia with ketosis suggests?

Back 38

organic acidemias and carb dz

Front 39

Serum NH3 > 200mM suggests?

Back 39

Urea Cycle Defect

Front 40

Elevated NH3 AND metabolic Acidosis suggests?

Back 40

Organic Acidemia

Front 41

Initial Lab Evaluation in IBEM?

Back 41

1) Serum Glucose, Ca, Mg
2) CBC with Diff
3) U/A (ketones?)
4) Serum Ammonia
5) ABG & Serum Electrolytes(metabolic acidosis)
6) Urine reducing substance

Front 42

Treatment of suspected IBEM.

Back 42

1) IV glucose
2) Prevent exposure (protein, lipid, etc)
3) correct acidosis with Na bicarb
4) correct hyperammonemia with Na benzoate/Na phenylacetate
5) dialysis if necessary

Front 43

What to look for in labs of Maple Syrup Urine Dz?

Back 43

Branched Chain AA's

Front 44

What to look for in labs of Tyrosinemia?

Back 44

Succinylacetone in urine

Front 45

T/F - Beware aortic dilatation in Marfan's and Homocystinuria.

Back 45

False - no in homo

Front 46

What to look for in labs of Homocystinuria?

Back 46

increased methinonine in urine

Front 47

Cystinuria is AutoRec caused by defect in absorption of (4) that lead to renal stones.

Back 47

cystine, lysine, arginine, ornithine

Front 48

AutoRec dz caused by defect in transport of neutral amino acids. Most patients are asymptomatic

Back 48

Hartnup Disease

Front 49

Most common urea cycle defect? Inheritance?

Back 49

Ornithine transcarbamylase deficiency, x linked

Front 50

This disorder should be suspected in any newborn with hepatomegaly and hypoglycemia

Back 50

Galactosemia

Front 51

Vomiting, diarrhea, FTT, hepatomegaly, RTA, cataracts with oil-droplet appearance

Back 51

Galactosemia

Front 52

T/F - nearly all females suffer from ovarian failure in galactosemia

Back 52

True

Front 53

Von Gierke's Dz or G6phosph. Deficiency are at higher risk of _

Back 53

hepatocellular carcinonma

Front 54

Pompe's dz is caused by

Back 54

alpha glucosidase deficiency

Front 55

Most common Fatty acid oxidation disorder

Back 55

medium chain acyl coA dehydrogenase

Front 56

Hexosaminidase A deficiency, hyperacusis, macrocephaly

Back 56

Tay-Sachs

Front 57

Glucoccerebrosidase deficiency, Erlenmeyer flask shape to distal femur, HSM

Back 57

Gaucher's Dz

Front 58

Sphingomyelinase deficiency, cherry red macula

Back 58

Niemann-Pick Dz

Front 59

Neurodegenerative disorder caused by arylsulfatase A deficiency

Back 59

Metachromatic Leukodystrophy

Front 60

alpha L iduronidase defeicency, Auto Rec, progressive coarse face with corneal clouding; Diagnosis by?

Back 60

Hurler Syndrome via dermatan and heparan sulfates in urine

Front 61

X linked MPS with no eye involvement

Back 61

Hunter's Syndrome

Front 62

T/F - Morquio syndrome is a MPS disorder that is not associated with MR.

Back 62

True

Front 63

Treatment of Porphyrias.

Back 63

1) IV glucose
2) correct Electrolytes
3) avoid fasting and preciptants

Front 64

Kayser-Fleischer rings, ataxia, hepatic dysfunction

Back 64

Wilson's Dz

Front 65

Screening test for Wilson's

Back 65

Serum ceruloplasmin (decreased)

Front 66

Treatment of Wilson's

Back 66

1) avoid copper foods
2) chelation therapy with penicillamine
3) worst liver Tx