Peds 2 Flashcards

1
Q

neonate with alopecia and orange-colored, nodular skin? Tx?

A

nevus sebaceous

tx = remove before adolescence, can undergo malignant degeneration

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2
Q

enzyme defect in PKU

A

phenylalanine hydroxylase

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3
Q

Newborn with vomiting, athetosis, seizures, developmental delay/MR, fair hair and skin

A

PKU

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4
Q

When is breastfeeding CI? (7)

A

HgE-Ag + Hep B, HIV, herpes on nipple, chemo, Lithium, radioactive iodide
neonatal PKU and galactosemia

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5
Q

Enzyme defect in galactosemia

A

G1P-UT

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6
Q

Newborn with FTT, bilateral cateracts, jaundice, hypoglycemia?

A

galactosemia

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7
Q

What are galactosemia babies at increased risk of?

A

E. coli infxns

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8
Q

Signs of concern in neonate w/ jaundice (4)

A

If:

present on 1st day of life, Total Bili >12, Direct Bili >2, rise of >5/day

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9
Q

Inherited causes of direct hyperbilirubinemia (2)

A
Dubin Johnson (black liver)
Rotor Syndrome (milder form)
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10
Q

TE atresia a/w?

A

VACTERL (vertebral,anorectal atreisa, cardiac, TE, radial/renal, limb)

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11
Q

Choanal atresia a/w?

A

CHARGE (coloboma, haert defects, atresia (choanal), retarded growth, GU, ear)

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12
Q

mature lungs lecithin:sphingomyeline ratio

A

> 2

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13
Q

3 syndromes a/w omphalocele

A

Edwards, Patau, Beckwith-Weidemann

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14
Q

Neonate with umbilical hernia and macroglossia (big tongue)

A

congenital HYPOthyroidism

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15
Q

Structural abnormality that leads to infantile volvulus

A

Ladd’s band

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16
Q

Normal rotation of gut during development

A

270 CCW around SMA

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17
Q

Dx CAH

A

meausre 17,OH-Progesterone before and after ACTH bolus

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18
Q

Tx 21alpha-hydroxylase deficiency

A

hydrocortisone/fludrocortisone + aldosterone

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19
Q

Neonate with RDS, hypocalcemia, polycythemia, dx?

A

maternal gestational DM

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20
Q

Empiric Tx neonatal sepsis

A

amp + gent

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21
Q

Empiric treatment of infant meningitis

A

cefotaxime + amp

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22
Q

MCCs of newborn sepsis

A

GBS, Listeria, E. coli

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23
Q

Neonate w/ maculopapular rash on palm/soles, sniffles and periostitis

A

Congenital syphilis

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24
Q

Neonate w/ hydrocephalus, intracranial calcifications and chorioretinitis? Tx?

A

congenital toxoplasmosis

Pyrimethamine (sulfadiazine + leucovorin)

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25
Q

Neonate w/ cataracts, deafness, heart defects and extramedullary hematopoeisis

A

Congenital rubella

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26
Q

neonate w/ microcephaly, periventricular calcification, deafness, thrombocytopenia, petechia, seizures? Tx?

A

Congenital CMV

Tx = Ganciclovir

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27
Q

Neonate w/ limb hypoplasia, cutaneous scars, catacts, chorioretinitis, cortical atrophy

A

CONGENITAL varicella (not neonatal)

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28
Q

When and how do you treat NEONATAL varicella

A

if mom was exposed either 5 days prior or 2 days after delivery, give baby VZIG

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29
Q

Tx gonococcal conjunctivitis

A

IV cefotaxime or cefalexin

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30
Q

possible complication of neonatal chlamydial conjunctivitis

A

pneumonia

31
Q

neonate w/ grayish-brown spots in the periphery of his irises, MC assoc?

A

Down’s (brushfield spots, can be normal tho)

32
Q

Macroglossia a/w? (3)

A

congenital hypothyroidism, Down’s, Beckwith-Weidemann

33
Q

Annular pancreas MC a/w

A

Down’s

34
Q

Imperforate anus MC a/w

A

Down’s

35
Q

Omphalocele, rocker bottom feet, microcephaly, clenched hand? A/w what heart defect?

A

Edward Syndrome, a/w VSD

36
Q

MC genotype of aborted fetus

A

Turner’s (45 XO)

37
Q

Bicuspid aortic valve MC a/w?

A

Down’s

38
Q

Mandibular hypoplasia, glossoptosis, cleft (soft) palate? a/w?

A

Pierre-Robin Sequence

a/w Fetal Alcohol Syndrome or Treacher-Collins

39
Q

Broad, square face, short stature, self-injurious behavior and developmental delay

A

Smith Magenis Syndrome (chr 17 deletion)

40
Q

hypotonia, hypogonadism, hyperphagia, skin picking, aggression

A

Prader-Willi Syndrome (PATERNAL deletion of 15q)

41
Q

Kid with seizures, trabismus, sociable/happy, hand-flapping, episodic laugther

A

Angelman Syndrome (MATERNAL deletion of 15q)

42
Q

Elfin appearance, friendly, increased empathy and verbal reasoning ability but developmental delay

A

Williams Syndrome (chr 7 deletion)

43
Q

MCC mental retardation in US? in boys specifically?

A

MCC = Fetal alcohol syndrome

in boys = Fragile X

44
Q

Boy with macrocephaly, macroorchidis, large ears? Etilogy?

A

Fragile X CGG repeats on X, demonstrates anticipation

45
Q

Advanced PATERNAL age can cause?

A

Waardenburg Syndrome (AD)

46
Q

kid with hearing loss, white forelock, 2 different colored eyes, + FHx

A

Waardenburg Syndrome

47
Q

2yo with recurrent infections, otitis media, diarrhea and pneumonia without tonsils? inheritence?

A

Bruton’s Agammaglobulinemia, X-linked recessive

48
Q

absence of B cells on cytometry, low levels of ALL Ig’s

A

Brutons Agammaglobulinemia

49
Q

Normal number of B cells on cytometry but low levels of ALL Ig’s

A

CVID

50
Q

Kids with CVID are at increased risk of?

A

Lymphoma 2/2 increased predisposition to formation of lymphoid tissue

51
Q

MC B cell defect

A

IgA deficiency

52
Q

Seizures, truncus arterosus, micrognathia

A

DiGeorge Syndrome

53
Q

Syndrome a/w recurrent candida, viral infxns and PCP infections

A

DiGeorge Syndrome (lack of T cells)

54
Q

Infant/kid with no thymus and no tonsils? inheritance?

A

SCID (combined deficiency of B and T cells)

X linked recessive

55
Q

Milder form of SCID?

A

Adenosine Deaminase Deficiency (leads to dATP buildup in mitotically active cells, esp B and T cells)

56
Q

Tx severe infxns in SCID

A

BM transplant before 1yo

57
Q

Nitroblue tetrazolium test

A

Chronic Granulomatous Disease (negative in CGD b/c defect in production of ROS/ NADPH deficiency)

58
Q

infxns seen in CGD

A

S aureus, E coli, Candida, Klebsiella, Pseudomonas, Apsergillus

59
Q

Tx CGD

A

Daily Bactrim +/- IFN-gamma to decrease serious infxns

60
Q

kid with anemia, LAD, hypergammaglobulinemia and recurrent infxns

A

CGD

61
Q

Partial oculocutaneous albinism, peripheral neuropathy, neutropenia

A

Chediak-Higashi Syndrome

62
Q

Infxns seen in Chediak Higashi syndrome

A

pyogenic = Strep pyogenes (GAS), S aureus, Pseudomonas

63
Q

inherited immunodeficiency w/ giant granules in neutrophils on microscopy

A

Chediak-Higashi Syndrome

64
Q

Coarse facies, abscesses, eosinophilia, severe eczema

A

Job’s Syndrome

65
Q

Tx Job’s syndrome

A

oxacillin/dicloxacillin/nafcillin + IVIG

66
Q

eczema, petechiae, recurrent otitis media

A

Wiskott-Aldrich Syndrome (decreased IgM, increased IgA/E)

67
Q

Immunizations at birth

A

HepB

68
Q

Immunizations at 2/4/6 months

A

Hep B, rotavirus, DTaP, Hib, pneumococcoal, IPV?

69
Q

when can you start given infant flu shots?

A

6mo

70
Q

immunizations at 12mo

A

MMR, varicella, HepA

71
Q

Immunizations needed to be completed by 2yr

A

DTaP, HepA

72
Q

Soft systolic murmur w/ vibratory and musical quality heard at lower sternal border

A

Still’s murmur = completely benign, no assoc cond

73
Q

Cyanotic newborn that doesn’t improve with O2

A

Transposition of Great Vessels

74
Q

ToGV MC seen in…

A

infants of DM mothers