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Pediatrics > Misc > Flashcards

Misc Flashcards

0
Q

2 very specific auto antibodies in lupus

A

dsDNA

Smith

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1
Q

SSA/SSB associated with what 2 things

A

Sjogrens

Neonatal lupus

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2
Q

RNP autoantibody associated with

A

MCTD

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3
Q

Young boy with lupus: think these 2

A

Klinefelters

Complement deficiency

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4
Q

Poisoning: plastics company, dysrrhythmia, sever metabolic acidosis

A

Cyanide

Give antidote kit or hydroxocobalamin

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5
Q

paraquat poisoning is often due to suicide attempt and causes ____

A

ARDS

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6
Q

pneumonia at birth, HSM, jaundice, rashes, hemolytic anemia

what is this?

A

congenital syphilis

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7
Q

c section baby
tachypnea
xray shows retained fluid in the fissures

A

transient tachypnea of the newborn

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8
Q

context of chlamydia pneumonia

A

mild pna develops in an exposed infant at several weeks of life

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9
Q

what to do for strabismus in a 3 month old

A

refer immediately to ophtho

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10
Q

most common cause of pediatric orbital cellulitis

A

local spread from places like the paranasal sinus

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11
Q

orbital vs. periorbital/preseptal cellulitis management

A

orbital- admit for IV abx

periorbital- outpatient PO abx

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12
Q

delayed umbilical cord separation, think _____

A

leukocyte adhesion deficiency

  • leukocytosis
  • risk for overwhelming bacterial infection
  • antibody production is normal
  • dx with flow cytometry
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13
Q

antidote for western diamondback rattlesnake

A

CroFab

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14
Q

antidote for arsenic

A

dimercaptosuccinic acid

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15
Q

antidote for clonidine overdose/poisoning

A

naloxone

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16
Q

which bites definitely need abx ppx

A

cat, monkey, human

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17
Q

long face, large ears, prominent jaw, macroorchidism, hypotonia, repetitive speech, gaze avoidance, hand flapping

A

fragile X

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18
Q

hypotonia, epicanthal folds, simian crease, cardiac lesions (VSD or AV canal), MR, propensity for leukemia

A

trisomy 21 (Down syndrome)

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19
Q

SGA, micrognathia, low set ears, cardiac defects, small palpebral fissures, microcephaly, cleft lip/palate, rocker bottom feet

A

trisomy 18 (Edwards syndrome)

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20
Q

microcephaly, cutis aplasia of the scalp, cardiac defects, holoprosencephaly, cleft lip/palate, coloboma

A

trisomy 13 (patau syndrome)

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21
Q

short stature, blue irides, cardiac abnormalities involving the pulmonary vessels, hypercalcemia in infancy, friendly attitude

A

williams syndrome

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22
Q

small sharply edged lesions that occur most commonly on head and neck of infants
-yellow orange, slightly elevated, hairless

A

sebaceous nevi

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23
Q

AA baby with 1-2mm pustules that rupture –> hyperpigmented lesion encircled by a collarette of scale

A

pustular melanosis

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24
Q

deficiency: cheilosis, glossitis, ocular problems, seborrheic dermatitis

A

riboflavin deficiency

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25
Q

seizure, peripheral neuritis, dermatitis, microcytic anemia are seen in -_____ deficiency

A

vitamin B6 (pyridoxine)

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26
Q

megaloblastic anemia, glossitis, pharyngeal ulcers, impaired immunity suggest ______ deficiency

A

folate

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27
Q

biotin deficiency causes ______

A

dermatitis/seborrhea

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28
Q

bushy eyebrows, hirsutism, limb defects, VSD, MR

A

cornelia de lange syndrome

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29
Q

treatment of lead poisoning if severe

A

DMSA and calcium EDTA

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30
Q

aspirin/salicylate poisoning treatment

A

acetazolamide, IV Na bicarb +/- dialysis

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31
Q

organophosphate poisoning tx

A

atropine then pralidoxime

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32
Q

iron poisoning tx

A

deferoxamine

-causes red/vin rose urine

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33
Q

dimercaprol (BAL) for _____ ingestions

A

heavy metal

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34
Q

frothy malodorous vaginal discharge assoc with ____

how to tx

A

trichomonasl

metronidazole or tinidazole

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35
Q

tx for cyclospora diarrhea

A

bactrim then cipro

it’s a nonbloody diarrhea

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36
Q

what is diphyllobothrium latum, how does it present, how to tx

A

tapeworm
can present with B12 deficiency
tx with praziquantel

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37
Q

Li during pregnancy causes _____

A

ebstein anomaly

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38
Q

ACEI during pregnancy causes ______

A

renal dysgenesis, oligohydramnios, skull ossifications defects

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39
Q

isotretinoin during pregnancy causes _____

A

hydrocephalus, CNS defects, microtia/anotia, small or missing thymus, conotruncal heart defect, micrognathia, fetal death

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40
Q

congenital rubella syndrome

A

deafness, cataracts, MR, and heart defects

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41
Q

returns from Central America with pruritic lesion on foot; raised, red, serpiginous, few associated bullae
what is it and how to tx

A

cutaneous larva migrans

tx with ivermectin (antihelminth)

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42
Q

treatment for cradle cap (seborrheic dermatitis)

A

topical steroids or selenium sulfide-containing product

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43
Q

meds that can cause a photoallergic eruption include ____ and _____

A

griseofulvin

tetracycline

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44
Q

what med do you use to close a PDA

A

indomethacin

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45
Q

babies born to moms with lupus are at risk for this heart condition

A

heart block

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46
Q

kids on phenytoin should get this vitamin supplement

A

folate

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47
Q

in the developing world, give this vitamin to kids with measles

A

vitamin A

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48
Q

breastfed infant should get this vitamin

A

vitamin D

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49
Q

sickle cell patients should get this vitamin

A

folate

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50
Q

newborns get this vitamin

A

vitamin K

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51
Q

immunodeficiency: multiple abscesses

what is it and how to dx

A

chronci granulomatous disease

NBT/DHR

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52
Q

patient with weird infections and severe eczema

what is it, and what lab would you want

A

wisott aldrich syndrome
low platelets
-also eosinophilia and elevated IgE

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53
Q

kid with recurrent sinusitis, otitis, osteomyelitis
no lymph nodes and tonsillar tissue
what might this be and how do you diagnose

A

B cell defect- send serum Ig levels

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54
Q 
frequent infections 
loud systolic murmur
posteriorly rotated ears that are small and low set, down slanting and widely spaced eyes, small jaw, upturned nose
hypocalcemic seizures
what is this and how to dx real quick
A

digeorge syndrome

do intradermal skin test with Candida albicans- no response in kids with T cell deficiencies

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55
Q

protruding tongue, brushfield spots, neck webbing, MR, brachycephaly, upslanting palpebral fissures, epicanthal folds, flat face, small ears, cardiac issues, palmar creases, clinodactyly of 5th digit

A

trisomy 21 (Down syndrome)

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56
Q

which things increase risk of neuro damage in jaundiced infants
which things decrease the risk

A

increase: neonatal sepsis
decrease: metabolic alkalosis, increased attachment of bili to binding sites caused by drugs like sulfisoxazole, hyperalbumin, maternal ingestion of phenobarb during pregnancy

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57
Q

how to tx choanal atresia

A

surgery and placement of nasal tubes

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58
Q

when to give varicella zoster immunoglobulins to newborn babies

A

when mom has it within 5 days prior to delivery

when mom is diagnosed with it within 2 days after delivery

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59
Q

contraindications to breastfeeding

A

active TB
HIV
if taking antineoplastic agents, Li, cyclosporine, cocaine/heroin, amphetamines, ergotamines, bromocriptine, tetracycline

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60
Q

asphyxia at birth puts babies at risk for _____

A

persistent pulmonary HTN of the newborn

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61
Q

mom who has one congenital CMV kid… what about getting pregnancy again?

A

mother has antibodies to CMV that are passed to the fetus and it will most likely be fine

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62
Q

if neonate passes a bloody meconium in the setting of marginal placental separation, what test do you run?

A

apt-downey test

  • can tell difference between fetal vs. maternal hemoglobin
  • if it’s the mom’s blood from the delivery, then that’s fine
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63
Q

premie presents with distended abdomen, feeding intolerance, bloody stool
what is it and what to do

A

NEC
get a KUB –>
-if positive but no perf, then stop feeds, start IVF, order serial abdominal films, and start systemic abx
-if positive and perfed, then ex lap immediately

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64
Q

if two babies are premie and one is normal weight and one is SGA, what are the outcomes?

A

SGA baby has a higher risk of congenital malformations

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65
Q

how to tx galactosemia

A

stop breastfeeding and start soy based formulas

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66
Q

what is Erb-Duchenne palsy

A

C5 and C6
arm cannot be abducted, externally rotated at the shoulder, and forearm cant be supinated
waiter’s tip

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67
Q

what is Klumpke’s palsy

A

C7, C8, T1

palsy of the hand, Horner syndrome

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68
Q

subgaleal hemorrhage feels like a cephalohematoma that crosses the midline
when rapidly expanding and baby is tachy, what to do?

A

send baby to NICU for obs +/- fluid resuscitation

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69
Q

tremulousness and jitteriness that can progress to seizure activity 2/2 sludging of blood in the cerebral microcirculation
-what is it and how to tx?

A 
hyperviscosity syndrome (2/2 polycythemia)
tx with partial exchange transfusion with NS or LR
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70
Q

severe purulent conjunctivitis within 5 days of birth

what is it and how to tx

A

GC conjunctivitis
topical and systemic abx
give ppx with erythromycin upon birth if mom has it

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71
Q

conjunctivitis within 5-14 days of birth

what is it and how to tx?

A

chlamydial conjunctivitis
tx wit systemic abx
*however, asymptomatic infants born to chlamydia positive mothers are not routinely treated with oral abx at birth as ppx (in contrast to GC moms)

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72
Q

increased incidence of ______ in neonates receiving erythromycin

A

hypertrophic pyloric stenosis

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73
Q

how to reduce HIV infection from being vertically transmitted

A

anti-retrovirals for mom
a course of zidovudine to the child
-no need for special monitoring or routine radiographs

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74
Q 
low weight
short stature
edema over dorsum of hands and feet
loose skin folds at nape of neck
shield chest
coarctation of aorta
horseshoe kidney
A

Turner syndrome

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75
Q

baby being born to a mother with chronic Hep B (HBsAg positive)
what to do?

A

give hep B Ig and hep B vaccine to the baby

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76
Q 
which of the following when given to the mom is most likely to cause harm in a newborn infant at delivery:
propranolol
pcn
Al hydroxide
phenytoin
heparin
A

propranolol

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77
Q

if neonatal jaundice is due to sepsis, you should see _____

A

increase in both direct and indirect bili

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78
Q

goat milk does not have enough ____ and ___

A

folate and iron

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79
Q

complications of cleft palate/lip

A

recurrent otitis media and hearing loss, speech defects

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80
Q

when to repair cleft palate and lip

A

lip- 2-3 months

palate- 6 months-5years

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81
Q

transient tachypnea of the newborn often occurs in babies who ______

A

are born via scheduled c section… 2/2 retained fluid in the lungs

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82
Q

baby with HSM, anemia, persistent, rhinitis, maculopapular peeling rash on face, palms, and soles

A

congenital syphillis

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83
Q

in twin to twin transfusions, what happens to the donor twin and what happens to the recipient twin?

A

donor twin- oligohydramnios, anemia, hypovolemia
recipient- polyhydramnios, plethora, larger, hyperviscosity, respiratory distress, hyperbili, hypocalcemia, renal vein thrombosis, CHF, convulsions

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84
Q

a _________ natal too requires further investigation

A

midline or markedly pointed

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85
Q

duodenal atresia, TE fistula, and trisomy 18 can cause ______hydramnios
renal agenesis can cause ______hydramnios

A

poly

oligo

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86
Q

longitudinal striations in the metaphyses are characteristic of congenital ______
osteochondritis or periostitis usually indicates congenital ______

A

rubella

syphilis

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87
Q

newborn with bilateral cataracts, micophthalmia, IUGR, hemorrhagic skin lesions scattered throughout body (blueberry muffin), harsh systolic murmur heard at left sternal border radiating to the lung fields

A

congenital rubella

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88
Q

newborn with hydrocephalus, chorioretinitis, intracranial calcifications, anemia

A

congenital toxo

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89
Q

newborn with microcephaly, intracranial calcifications, HSM, marked hyperbili and thrombocytopenia
can also have sensorineural hearing loss

A

congenital CMV

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90
Q

widely spaced eyes, low set ears, broad nose, receding chin, limb abnormalities
what is this and what does it put you at risk for

A

oligohydramnios (potter sequence) due to bilateral renal agenesis
pulmonary hypoplasia

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91
Q

tx for biotinidase deficiency is lifelong administration of ______

A

biotin (a vitamin)

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92
Q

maple syrup urine disease requires limiting intake of _____

A

leucine, isoleucine, and valine (AAs)

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93
Q

aniridia, GU anomalies, and hemihypertrophy most often associated with ____

A

Wilms tumor

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94
Q

lateral displacement of medial canthi, broad nasal bridge, medial hyperplasia of the eyebrows, partial albinism (white forelock or heterochromia), deafness

A

waardenburg syndrome- AD inherited

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95
Q

sturge weber with port wine stain puts you at risk for _____

A

seizures, mental deficiency, hemiparesis or hemianopsia

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96
Q

hypopigmented oval or irregularly shaped skin macules (ash leaf spots), cerebral growths, myoclonic seizures, adenoma sebaceum
-AD inheritance

A

tuberous sclerosis

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97
Q

shaken babies tend to have _____ hemorrhages in the brain

A

subdural

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98
Q

P anca associated with what

A

Churg Strauss

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99
Q

C anca associated with

A

Wegeners granulomatosis

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100
Q

Most specific antibody for lupus

A

Anti smith

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101
Q

Antibody that measures lupus activity

A

Anti dsDNA

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102
Q

NBD and DHR tests are for what

A

Chronic granulomatous disease

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103
Q

Jones criteria for rheumatic fever

which one is most frequent?

A 
joints- polyarthritis ** most frequently seen
heart- carditis
nodules
erythema marginatum
sydenham chorea
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104
Q

how to tx tet spells if severe

A

most of the time, they are self limited and squatting helps

can give morphine and propranolol or sodium bicarb if super acidotic

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105
Q

Down syndrome is assoc with these two cardiac things

A

VSD

endocardial cushion defects

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106
Q

hydrops of the gallbladder is assoc with ______

A

KD

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107
Q

MCC myocarditis in kids

A

adenovirus

coxsackievirus

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108
Q

Osler nodes- small tender nodules in the tips of fingers and toes
janeway lesions- nontender hemorrhagic lesions on the hands and feet
splinter hemorrhages- dark lines under nails

A

uncommon findings of infective endocarditis

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109
Q

MCC organisms causing infective endocarditis in kids

A

strep viridans and staph aureus

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110
Q

what to give if cardiac massage doesn’t work for SVT

A

IV adenosine

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111
Q

what is quadruple rhythm (S3 and S4 present) associated with

A

ebstein anomaly

  • RA hypertrophy
  • RV conduction defects
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112
Q

this is the one cyanotic congenital heart disease that causes LVH and left axis deviation

A

tricuspid atresia

most of the other cyanotic congenital heart diseases cause RVH and right axis deviation

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113
Q
  • 3 day old with single S2, progressive deepening cyanosis since birth, no respiratory distress
  • CXR: no cardiomegaly, normal pulmonary vasculature
  • EKG: right axis deviation
A

TGA

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114
Q

thrombocytopenia, bilateral absence of radius, abnormally shaped thumbs
what is it, what heart stuff is associated

A

thrombocytopenia absent radius (TAR) syndrome

TOF and ASD

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115
Q

short stature, normal weight, shield chest (guy), cryptorchidism, low set and malformed ears, ptosis, pectus excavatum
what is it and what cardiac issue?

A 
noonan syndrome (male version of turner)
pulmonic stenosis
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116
Q

inherited long QT associated with ________ in _______

not associated with ______ in ______

A

deafness in jervell lange nielsen- AR

romano-ward syndrome- AD

117
Q

in hemiparalysis of the diaphragm, CXR might be normal so you order ______

A

chest ultrasound

118
Q

numerical cutoffs for sweat chloride test

A

< 40 is normal

> 60 is diagnostic

119
Q

how to tx gasoline, kerosene, and furniture polish aspiration

A

hydrocarbons

symptomatic tx sometimes with intubation and MV

120
Q

adult in the house has active TB

what to do with the child who has pulmonary signs and what to do with the baby?

A

baby- 3 months of isoniazid then PPD

child- 6 months of INH, rifampin, and pyrazinamide

121
Q

what appears to be recurrent lobar pneumonia in kids, hemoptysis, rapid clearing of radiographic findings
what is it and how to dx

A

idiopathic pulmonary hemosiderosis

bronchoalveolar lavage reveals hemosiderin laden macrophages

122
Q

bacterial tracheitis vs viral croup

how to tx each

A

croup does not have high fever and usually only has inspiratory stridor
tracheitis tends to have high fever and both inspiratory and expiratory stridor
tracheitis- intubation, IV abx
croup- inhaled epi and oral steroids

123
Q

-thumb sign on lateral neck xray
-drooling, dysphagia, muffled voice, sitting forward with neck hyperextended
what is it and what to do

A

epiglottitis- used to be HIB but now GABHS, moraxella, or strep pneumoniae
-intubation in the OR with skilled personnel

124
Q

kid eats dirt and gets difficulty breathing and eosinophilia

what test to send

A

ELISA for toxocara

cannot dx with stool ova or parasites b/c it migrates out of the intestines and does not return

125
Q

which sinuses drain into middle meatus

which sinuses drain into superior meatus

A

middle meatus- maxillary, frontal, anterior ethmoid

superior meatus- sphenoid or posterior ethmoid

126
Q

developmental timeline of sinuses

A

maxillary and ethmoid in infancy
frontal 6-10 years
sphenoid 3-5 years

127
Q

situs inversus
chronic sinusitis and otitis media
airway disease

A

primary ciliary dyskinesia, kartagener syndrome

128
Q

h/o pharyngitis, abrupt onset of fever, refusal of food, drooling, muffled/noisy breathing
what is it and how to tx?

A

retropharyngeal abscess

-I&D if fluctuant

129
Q

how to tx functional constipation

A

dietary changes, counseling on proper toileting behavior

can try stool softeners

130
Q

curly Q on barium enema indicates _____

A

malrotation and volvulus

131
Q

echogenic bowel on prenatal ultrasound
xrays show dilated loops of bowel
enema shows mircocolon

A

meconium ileus indicating CF

132
Q

two molecular markers seen in Crohn’s vs. UC

A

Crohn’s- ASCA

UC- p-ANCA

133
Q

intractable chronic constipation w/o fecal soiling

what is it and how to dx

A

hirschsprung

dx with Ba enema and rectal manometry

134
Q

how to dx and tx intussusception

A

air contrast enema

135
Q

currant jelly stools and sausage shaped mass in RUQ associated with what

A

intussusception

136
Q

sandifer syndrome

A

neck arching caused by gastroesophageal reflux

137
Q

tx for giardia

A

single dose tinidazole
3 days of nitazoxanide BID
5-7 days of metronidazole TID

138
Q

painless GI bleeding in a 2 year old

A

most likely meckel’s diverticulum

139
Q

how to dx lactose intolerance

A

hydrogen breath test

acidic stool pH in the presence of reducing substances

140
Q

doughy skin is seen in what kind of dehydration

A

hypernatremic

141
Q

hyperglycemia can be seen in _____ dehydration

A

hypernatremic

142
Q

what to do with congenital indirect inguinal hernias in babies

A

consider getting surgery before discharge

143
Q

activated charcoal is not useful for the following:

A 
alcohols
acids
ferrous sulfate
strong bases
cynaide
lithium
K
144
Q

activated charcoal is useful for the following

A

phenobarbital
TCAs
sustained release theophylline

145
Q

what is sorbitol-MacConkey agar used to culture

A

Enterohemorrhagic E Coli (produces shiga-like toxins) found in poorly cooked beef

146
Q

exclusive cow’s milk intake can lead to _____ deficiency

A

iron

147
Q

night blindness, dry skin, conjunctiva, and sclera

A

vit A deficiency

148
Q

exclusively breast fed infants should get ______ supplementation

A

vitamin D

149
Q

how to dx GERD

A

esophageal pH probe

150
Q

what to do for labial adhesions in pre-pubescent girl

A

observe or can use estrogen cream

151
Q

lax wrinkled abdominal wall
dilated urinary tract
intra-abdominal testicular tissue

A

prune belly syndrome

152
Q

to to manage central nephrogenic DI

A

maintenance of adequate fluid intake and diet

use of saluretic meds

153
Q

anorexia, polydipsia and polyuria, vomting, unexplained fevers, glucosuria but normal blood sugar, abnormally high urine pH in the face of mild or moderate serum hyperchloremic metabolic acidosis, mild albuminuria in the presence of normal serum protein and albumin

A

fanconi syndrome (global proximal tubular dysfunction)

154
Q

RTA1 (distal) and RTA4 both have positive ______

A

urine anion gap

155
Q

how to tx acute lobar nephronia

A

prolonged course of antibiotics

156
Q

isolated facial nerve palsy can be the sole manifestation of severe HTN in children

A

yep

157
Q

rheumatogenic strains of GAS are only associated with ______

nephritogenic strains of GAS are associated with _____ and _____

A

pharyngitis

pharyngeal or skin infections

158
Q

hereditary hearing loss, hematuria esp after URIs, ESRD common by 2nd-3rd decade of life, ocular abnormalities

A

alport’s syndrome

159
Q

Bartter syndrome

lab values and how to tx

A

hypokalemia, hypercalciuria, alkalosis, hyperaldosteronism, hyperreninemia
normal BP
tx by preventing dehydration, nutritional support, normalize K

160
Q

where is the gene for malignant hyperthermia

how to dx and tx

A

chromosome 19, ryanodine receptor
dx with caffeine contracture test
tx with dantrolene

161
Q

what to do with the urine in aspirin overdose

A

acidification of the urine helps

162
Q

demyelinaton in the CNS after an infection in kids < 10 years old
what is it and how is it tx

A

acute disseminated encephalomyelitis (ADEM)

  • it’s an autoimmune demyelinating disease that resembles MS in history and physical and imaging (white plaques scattered) but occurs in young children, has systemic findings like fever and emesis
  • tx with high dose steroids
163
Q

tuft of hair over the spine indicating possible occult spinal dysraphism –> what history and physical exam findings might you see
what to do next

A

frequent UTIs
lower extremity hypotonia and muscle atrophy
-get imaging with CT, MRI, or US

164
Q

this metabolic disease can cause poor growth and acute infantile hemiplegia

A

homocystinuria 2/2 thromboembolic events

165
Q

what’s the ocular icepack test

A

test for myasthenia gravis

put an ice pack on the affected eye –> that eye should elevate within 5 minutes

166
Q

what is acute infantile hemiplegia

A

essentially a stroke in kids

167
Q

cherry red spot
sensitivity to noise/startles easily
what is it and what can you find on labs

A

tay sachs disease- AR inherited (GM2 gangliosidosis)

absence of beta-hexosaminidase A activity in WBCs

168
Q

deficiency of both beta-hexosaminidase A and B

A

Sandhoff disease

169
Q

normal child at birth then HSM, LAD, psychomotor retardation in the first 6 months, followed by regression after that

A

niemann-pick disease (type A) spingomyelinase

170
Q

infant with increased tone, strabismus, organomegaly, FTT, stridor, several years of psychomotor regression before death

A

infantile gaucher disease

171
Q

early infancy with irritability, seizures, hypertonia, optic atrophy, severe delay, death in first 3 years

A

krabbe disease- galactocerebroside beta-galactosidase

172
Q

childhood with angiokeratomas in the bathing trunk area –> severe pain episodes
frequent low grade fevers
sometimes cataracts

A

fabry disease- alpha galactosidase reduced activity

173
Q

distal muscle weakness in childhood, elevated CK, what is it and what else should you look for and how to dx

A

myotonic muscular dystrophy (unlike most muscle problems, it causes distal weakness)

  • ptosis, baldness, hypogonadism, facial immobility with distal muscle wasting, cataracts
  • dx with molecular blood test
174
Q

what do you see on contrast head CT in TB meningitis

A

exudate in the basal cisterns that shows enhancement

175
Q

subacute sclerosing panencephalitis (SSPE)

when does it occur and what do you see?

A

after measles

insidious behavior changes, deterioration in schoolwork, dementia

176
Q

triplet repeat expansion on chromosome 9 makes you think of ____

A

Friedreich’s ataxia

177
Q

abnormal neuro exam at birth –> over next few weeks, progressive CNS degeenration, enlarged liver and spleen, macroglossia, coarse facial features, cherry red spot, gingival hyperplasia, hernias, joint stiffness, dorsal dyphosis, edema of extremities

A

complete lack of acid beta-galactosidase activity

GM1 generalized gangliosidosis type 1

178
Q

normal child at birth, rapid decline in motor and cognitive functions age 6-18 months of age
affected girls lose use of hands, communication, socialization

A

Rett syndrome- MECP2 gene on the X chromosome

179
Q

onset 1-2 years
progressive ataxia, weakness, peripheral neuropathy
gray macular lesions

A

metachromatic leukodystrophy- deficient activity of galactosyl-3-sulfateceramide sulfatase

180
Q

cherry red spot

A

GM1 generalized gangliosidosis type 1
sandhoff disease
niemann pick disease type A
tay sachs disease (GM2 gangliosidosis)

181
Q

GBS tx

A

IVIG, steroids, plasmapheresis

182
Q

anterior horn disorder that presents either in utero or by first 6 months of life with hypotonia, weakness, delayed milestones

A

werdnig-hoffmann disease/SMA type 1

SMN gene problem

183
Q

calcifications in CMV vs. toxo

A

CMV- periventricular

toxo- scattered throughout the cortex

184
Q

bullous eruptions that become hyperpigmented lesions, seizures

A

incontinentia pigmenti

185
Q

milkmaid grip, emotional lability, hypotonic, darting tongue

A

sydenham chorea

186
Q

chromosome of NF1

A

17

187
Q

lisch nodules (hamartomas of the eyes) found in _____

A

NF1

188
Q

PHACE syndrome

A 
posterior fossa malformations
hemangiomas
arterial anomalies
coarctation of the aorta
eye abnormalities
189
Q

shagreen patch (roughened, raised lesion over the sacrum)

A

tuberous sclerosis

190
Q

white pinpoint lesions on a bright red buccal mucosa in the area opposite lower molars

A

koplik spots of measles

191
Q
  • mild sore throat and malaise –> adherent membrane covering the tonsils and extending to cover the uvula, palate, posterior oropharynx, hypopharynx, and glottic area
  • LAD and soft tissue swelling –> bull neck and maybe airway compromise
A

diphtheria (corynebacterium diphtheria)

192
Q

infant born to HIV + mom

what do you do while you await final determination of the kid’s status

A

bactrim for PCP ppx starting at 6 weeks

193
Q

mitochondrial hepatopathy due to interaction of influenza or varicella infection and aspirin use

  • high mortality
  • elevated liver enzymes and ammonia (bili is normal)
  • seizures, coma, hyperventilation, decorticate posturing
  • death from cerebral edema and subsequent herniation
A

reye syndrome

194
Q

seizure followed by diarrhea with mucus and blood
Ekiri syndrome- rare and fatal toxic encephalopathy

what is this, how to dx, how to tx

A

shigella
dx with stool culture
supportive care, 3rd gen cephalosporin abx

195
Q

how to tx alopecia areata

A

exclamation hair

tx with UV light therapy, topical/intradermal steroids

196
Q

roseola virus

A

HHV 6

197
Q

hand foot and mouth disease

A

coxsackie A16 virus

198
Q

echo 11 virus causes _________

A

viral meningitis

199
Q

7 days of fever, chills, severe muscle pain, pharyngitis, HA, scleral injection, photophobia, cervical adenopathy –> seemed to get better –> then fever, nausea, emesis, HA, mild nuchal rigidity
-CSF shows monocyte predominant increased WBC and elevated protein

A

leptospirosis
most cases are mild or subclinical
two types: anicteric and icteric (weil syndrome)

200
Q

anicteric leptospirosis course

A

-septicemic phase –> immune phase in which meningitic sxs return and can last up to 1 month

201
Q

icteric leptospirosis course

A

-septicemic phase –> severe liver and kidney dysfunction

202
Q

how to tx leptospirosis

A

PCN and tetracycline in kids > 10 years are good if started in the first week of sxs

203
Q

antibiotic for pertussis

A

erythromycin

204
Q

pertussis immunity: infection vs immunization

A

immunity 2/2 infection is lifelong

immunity 2/2 immunization wanes… thus the Tdap boosters that adults get

205
Q

diffuse adenopathy, tonsillar enlargement, enlargedspleen, small hemorrhages on soft palate, periorbital swelling, atypical lymphocytes

A

EBV- infectious mononucleosis

206
Q

infant who appears normal who has a sudden onset of high fever and marked elevation and left shift of the WBC count

A

pneumococcal bacteremia

207
Q

prolonged low grade insidious nasopharyngitis that sometimes occurs in infants infected with GABHS

A

streptococcosis

208
Q

_____ is an infection of the nasolacrimal sac

A

dacryocycstitis

209
Q

_______ is a firm, nontender nodule that results from a chronic granulomatous inflammation of the meibomian gland

A

chalazion

210
Q

what’s another word for measles?

A

rubeola

211
Q

viral exanthem- high fever abruptly abates as a rash appears

A

roseola

212
Q

mumps orchitis occurs mostly in ______ males

mumps can also cause meningitis at the same time as parotitis or 10 days after parotitis

A

post-pubertal

213
Q

after rabies exposure, do these things

A

wound cleansing
rabies Ig
five shot vaccine series

214
Q

treatment for RMSF

A

< 8 years old

8 and over- doxycycline

215
Q

thrombocytopenia, eczema, increased susceptibility to infection

A

wiskott-aldrich (X linked recessive)

216
Q

how to tx lyme

A

< 8 amoxicillin

8 and over- doxycycline

217
Q

what is enterobius vermicularis

A

pinworm- anal itching

218
Q

what is DRESS

A

drug rash, eosinophilia, and systemic sxs

-assoc with abx and AEDs

219
Q

contraindications to LP in kids suspected to have meningitis

A

increased ICP in a kid with closed fontanelles
severe cardiorespiratory distress
skin infection at puncture site
severe thrombocytopenia or other coagulation disorder

220
Q

barking cough

A

croup- parainfluenza

221
Q

CATCH mnemonic is for ______

A

DiGeorge
cardiac, abnormal faces, thymic hypoplasia, cleft palate, hypocalcemia
T cell issues lead to issues with fungi, protozoa, acid fast bacteria, certain viruses

222
Q

deficiency in all 3 classes of Igs

what is it and how does it present

A

X linked agammaglobulinemia (Bruton, XLA)
-after 3 months of age with recurrent and often simultaneous bouts of otitis media, pnuemonia, diarrhea, and sinusitis but w/o fungal and viral infections

223
Q 
mild T cell dysfunction
low IgM
high IgA and IgE
eczema
recurrent middle ear infections
lymphopenia
thrombocytopenia
A

wiskott-aldrich (combined T and B cell disease)

224
Q

disorder of phagocytic chemotaxis associated with hypergammaglobulin E, eczema-like rash, recurrent severe staph infections

A

Joe Buckley syndrome

225
Q

ampicillin rash is seen in _____

A

EBV infectious mononucleosis

226
Q

name the organism:
foot wound through a shoe
foot wound through bare foot

A

pseudomonas

staph

227
Q

thayer martin media is used to culture _____

A

gonorrhea

228
Q

pneumonia 2/2 chlamydia shows _____ in peripheral blood
CXR shows ________
afebrile often

A

eosinophils

hyperinflation with interstitial infiltrates

229
Q

very serious pneumonia causing ptx in kids < 1 year

A

staph pneumonia

230
Q

pleural effusions and empyemas often seen in _____ pneumonia in kids who are a bit older

A

strep pneumo

231
Q

how to manage ITP

A

if mild sxs- observe
if significant bleeding- IVIG and steroids (??steroids before ruling out leukemia with bone marrow biopsy)
if Rh (+) pt with working spleen, give anti-D immunoglobulin
if sxs > 1 year, consider splenectomy

232
Q

when iron deficiency anemia occurs, FEP _______ in the blood

A

accumulate

233
Q

hemoglobin A2 is increased in _______

A

beta thal trait –> family counseling only as tx

234
Q

who might you give daily folate and PCN

A

sickle cell anemia pts

235
Q

how to tx lead poisoning

A

dimercaptosuccinic acid

236
Q

what is the kasabach merritt phenomenon and how to tx

A

large vascular anomalies in new borns –> plt and RBC sequestration within the vascular tumor causes thrombocytopenia, coagulopathy, and MAHA
-tx with steroids, alpha interferon, vincristine

237
Q

inheritance of G6PD deficiency

what’s tricky about testing

A

X linked recessive
-testing for the enzyme right after a hemolytic episode might give you a false negative b/c only the young RBCs with good amounts of enzyme survive the episode

238
Q

how to tx cyclic neutropenia

A

rhG-CSF

239
Q

when does sickle cell disease manifest

A

4-6 months of life when fetal hemoglobin is replaced with sickled hemoglobin

240
Q

newborn with anemia that’s not due to ABO or Rh incompatibility

A

fetomaternal transfusion

do kleihauer-betke stain to look for fetal hemoglobin in mom’s blood

241
Q

EBV usually causes significant anemia and thrombocytopenia (T/F)

A

F

242
Q

chromosome of wilms tumor

A

11

243
Q

hereditary spherocytosis can cause neonatal hyperbili

A

T

244
Q

in DIC, there is consumption the following (5 things)

A

fibrinogen
factors II, V, VIII
platelets

–> prolonged PT, PTT, TT; decreased factor VIII and plts; increased fibrin split products

245
Q

PT tests for the following factors

A

I, II, V, VII, X

246
Q

vitamin K dependent factors and what is prolonged

A

II, VII, IX, X
PT and aPTT
normal TT and plts

247
Q

what does aminocaproic acid (amicar) do?

A

interferes with fibrinolysis and stabilizes a clot once it’s already formed by inhibiting plasmin

248
Q

if you suspect Hodgkin lymphoma, what do you do next?

A

CXR which may show mediastinal mass

249
Q

some target cells indicate _____

a lot of target cells indicate _____

A

thalassemia

hemoglobin C disease

250
Q

______ presents in the second 6 months of life with severe anemia requiring transfusion, heart failure, HSM, weakness
later facial deformities (maxillary hyperplasia and malocclusion)

A

alpha thalassemia major

251
Q

8 year old with hgb 8 and repeated admissions for hand pain and swelling
what is it and what might you see on smear?

A

SS disease

howell jolly bodies

252
Q

usually a pretty mild anemia but you see tons of target cells

A

hemoglobin C disease

253
Q

accumulation of _____ and its metabolites cause issues with liver, kidney, and CNS
notably acute liver failure in infancy or progressive cirrhosis and then liver failure… dietary management does not prevent liver disease

A

tyrosinemia type 1

254
Q

3-4 months of age: FTT, hypoglycemia, hepatomegaly, acidosis

A

glucose 6 phosphate deficiency

255
Q

infancy: cholestasis, bleeding into CNS/GI tract/umbilical stump, elevated transaminases –> chronic hepatitis and portal HTN

A

alpha 1 antitrypsin deficiency- chromosome 14

256
Q

anemia, leukopenia, thrombocytopenia
liver and spleen involvement
erlenmeyer-flask appearance of long bones
what is it, what’s the cause, how to dx

A

gaucher disease

  • beta glucocerebrosidase deficiency –> abnormal accumulation of glucocerebroside in the reticuloendothelial system
  • dx with absence of glucocerebrosidase activity in leukocytes, skin fibroblasts, liver cells
257
Q
  • sphingomyelinase deficiency
  • hexosaminidase A deficiency
  • sulfatase A deficiency
  • serum trihexosidase deficiency
A

type A Niemann-Pick
Sandhoff
juvenile metachromatic leukodystrophy
Fabry

258
Q

babies born to hyperthyroid moms can develop ______

A

heart failure

259
Q

distinctive white forelock, heterochromia irides, unilateral or bilateral congenital deafness, lateral displacement of the inner canthi

A

waardenburg syndrome- AD

260
Q

short stature, microcephaly, centrally placed hair whorl, small ears, redundant skin on nape of neck, upslanting palpebral fissures, epicanthal folds, flat nasal bridge, brushfield spots, protruding tonue, short and broad hands, simian creases, widely spaced first and second toe, hypotonia, duodenal atresia, VSD/TOF/endocardial cushion defect

A

Down syndrome

261
Q

small testes that are firm and fibrotic
reduced upper to lower body segment ratio
high LH after age 12 years

A

Klinefelter syndrome

262
Q

short stature, sexual infantilism, streak gonads, broad chest, low hairline, webbed neck, congenital lymphedema of hands and feet, coarctation of aorta

A

Turner syndrome

263
Q

most likely cause of striae and central obesity in child

A

exogenous steroid administration and then bilateral adrenal hyperplasia

264
Q

this IEM puts neonates at risk for E Coli sepsis

A

galactosemia

cataracts, ascites, elevated LFTs, low serum glucose levels

265
Q

tx for ornithine transcarbamylase deficiency

A

protein restriction and supplementation

266
Q

tx maple syrup urine disease

A

diet free from branched chain amino acids

267
Q

high doses of vitamin B6 for this IEM

A

homocystinuria

268
Q

IEM with mousy smell

A

PKU

269
Q

elevated urine succinylacetone indicates _____

A

tyrosinemia

liver and renal dysfunction, growth failure, rickets, neuro sxs

270
Q

elevated methionine and homocystine are assoc with ________

also cabbage smell, delays in walking, MR, muscle weakness

A

methioninemia

could also be asymptomatic

271
Q

achondroplasia… are the limbs and trunk proportionate?

A

no
head is too big
limbs are too short

272
Q

in _____ deficiency, the U:L ratio is normal often w/o other signs or sxs

A

GH

273
Q

thyroid hormone deficiency causes stunting of growth with ______ proportions

A

persistence of immature body proportions

274
Q

short trunk with short stature, marked slowing of growth, severe scoliosis, pectus carinatum, short neck

A

morquio syndrome (mucopolysaccharidosis IV)

275
Q

hypothyroidism in a newborn can present as ________

A

prolonged jaundice and distended abdomen

276
Q

umbilical hernia, kyphoscoliosis, deafness, cloudy cornea, claw hand deformity, progressive delay, HSM with coarse facial features, short stature, macrocephaly, hirsutism, decreased joint mobility

A

hurler syndrome (mucopolysaccharidosis type 1)

277
Q

retinoblastoma chromsome

A

13

278
Q

short stature with delayed boneage, MR, increased bone density esp in the skull, brachydactyly of 4th and 5th digits, obesity with round facies and short neck, subcapsular cataracts, cutaneous and subcu calcifications, perivascualr calcifications of the basal ganglia

A

pseudohypoparathyroidism (low Ca, high phosphorus but high PTH)

279
Q

black diapers when exposed to air

A

homogentisic acid oxidase deficiency = alcaptonuria

280
Q

ketoacid decarboxylase deficiency is what

A

maple syrup urine disease

281
Q

wilson disease can cause fanconi syndrome

A

yep

282
Q

what electrolyte issues do you see in nutritional rickets (vit D deficiency)

A

normal serum Ca
hypocalciuria
phosphaturia

283
Q

what Ca and PO4 do you see?

  • vitamin D resistant rickets
  • pseudohypoparathyroidism (brachydactyly of 4th and 5th digits)
  • osteogenesis imperfecta
  • hypoparathyroidism (tingling and numbness –> seizures)
  • medullary thyroid carcinoma
A 
low PO4, normal Ca 
high PO4, low Ca
normal PO4, normal Ca
high PO4, low Ca
normal PO4, normal Ca
284
Q

severe hypotonia and poor feeding in a 6 day old

A

prader willi

285
Q

obesity, mental retardation, hypogonadism, polydactyly, retinitis pigmentosa with night blindness

A

laurence-moon-biedl syndrome

286
Q

rare cause of childhood obesity assoc with hypothalamic tumor

A

frohlich syndrome

287
Q

tx of pseudohypoparathyroidism

A

large doses of vitamin D and reduction of phosphate load

288
Q

return to play guidelines for concussions

A

grade 1: no LOC, confusion < 15 minutes
grade 2: no LOC, confusion > 15 minutes
grade 3: LOC

grade 1- can return to game
grade 2 or two grade 1s in one game- stay out for a week
grade 3- hospital eval

289
Q

STD: inguinal adenopathy occurs at same time as ulcer

A

chancroid- chocolate agar

290
Q

STD: LGV is caused by _________

inguinal adenopathy occurs after the ulcer has healed

A

chlamydia trachomatis

Pediatrics (14 decks)

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