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*****aPeds > UWorld peds > Flashcards

UWorld peds Flashcards

1
Q

What does vitamin E deficiency lead to?

A

hemolytic anemia and neurologic abnormalities

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2
Q

what heart sounds are associated with TOF?

A
  • ULSB harsh systolic cresc decresc ejection murmur (due to RVOT obstruction - pulmonic stenosis/atresia)
  • single S2 (due to pulmonic stenosis)
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3
Q

how does hypoplastic left heart syndrome usually present?

A

heart failure in the first few weeks of life; usually no murmur

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4
Q

what other defect (other than NTD) is elevated AFP associated with?

A

abdominal wall defect

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5
Q

treatment for gastroschisis after birth?

A
  • sterile saline wrap
  • NG tube to decompress bowel
  • abx
  • surgical repair w/ single stage closure
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6
Q

how is omphalocele different?

A
  • often assoc w/ other congenital defects

- surgery with staged closure via silo

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7
Q

MCC osteomyelitis?

A

S. aureus

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8
Q

onset of gonococcal conjunctivitis and tx?

A

2-5 days after birth; IV or IM ceftriaxone or cefotaxime

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9
Q

onset of chlamydial conjunctivitis and tx?

A

5-14 days

oral erythromycin

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10
Q

unilateral tearing w/ minimal conj. injection. dx and tx?

A

nasolacrimal duct obstruction; tx w/ massage of nasolacrimal ducts

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11
Q

rash w/ sandpaper like texture? dx and tx

A

scarlet fever; tx w/ PCN V

- think circumoral pallor and strawberry tongue

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12
Q

what does abx after GAS infxn protect you from?

A

rheumatic fever

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13
Q

what do abx after GAS infxn NOT protect you from?

A

poststreptococcal glomerulonephritis

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14
Q

hip, groin or knee pain + antalgic gait in kid 4-10

A

Legg-Calvé-Perthes disease (idiopathic avascular necrosis of the femoral capital ephiphysis)

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15
Q

MC childhood myopathy?

A

duchenne muscular dystrophy -> proximal muscle weakness and calf pseudohypertrophy

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16
Q

what part of the bone does osteosarcoma target?

A

metaphyses (growth plate)

- codman’s triangle

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17
Q

what part of bone is Ewing’s sarcoma?

A

diaphyses

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18
Q

what is the hallmark of neonatal tetanus?

A

opisthotonus (diffuse hypertonicity)

  • can also have feeding difficulty from trismus (lockjaw)
  • risk for life-threatening stridor and resp failure
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19
Q

tx for tetanus?

A

supportive, abx (PCN), tetanus immune globulin

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20
Q

cyanotic infant with left axis deviation and small/absent R waves. suspected dx?

A

tricuspid valve atresia

- dec blood to RV -> underdev. of pulmonary vasculature

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21
Q

RF for congenital heart disease?

A
  • congenital rubella syndrome
  • down syndrome
  • maternal diabetes
  • FH of CHD
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22
Q

CXR: increased pulmonary markings and cardiomegaly

A

complete AV canal defect

  • due to excessive pulmonary BF and biventricular volume overload
  • assoc w/ DS
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23
Q

tall P waves, R axis deviation on EKG, cardiomegaly

A

Ebstein’s anomaly

- displacement of malformed tricuspid into RV -> severe triscupid regurg and R atrial enlargement

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24
Q

type of sz easily provoked by hyperventilation?

A

absence seizure

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25
Q

characterisitcs of absence sz?

A
  • last 10-20 sec
  • abrupt onset and resolution
  • +/- automatisms
  • 3Hz spike/wave on EEG
  • easily provoked by hyperventilation
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26
Q

Lennox-Gastaut syndrome

A
  • presents by age 5
  • MR
  • severe sz of varying types (atypical absence, tonic)
  • EEG; slow spike wave pattern
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27
Q

management steps of caustic ingestion

A
  1. secure ABCs
  2. decontaminate (remove clothing, irrigate)
  3. CXR if resp symptoms
  4. endoscopy w/in 24 hrs
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28
Q

definition of primary amenorrhea?

A

absence of menarche by age 15

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29
Q

best way to confirm turner syndrome?

A 
karyotype analysis (if neg, an high IOS do FISH for mosaicism)
*buccal smear for barr bodies is outdated and unreliable screening test!
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30
Q

which RTA is commonly genetic and assoc w/ nephrolithiasis?

A

type 1 -distal (poor hydrogen secretion into urine)

alkalotic urine

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31
Q

which RTA is assoc w/ Fanconi syndrome?

A

type 2 - proximal

poor bicarb resorption

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32
Q

which RTA causes hyperkalemic hyperchloremic metabolic cidosis?

A

type 4 - defect in sodium/potassium exchange in distal tubule (aldosterone resistance)

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33
Q

typical labs of RTA

A
  • low serum bicarb
  • hyperCl
  • normal anion gap metabolic acidosis
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34
Q

definition of precocious puberty

A

girls <8

boys <9

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35
Q

definition of infantile colic

A

excessive cry for >= 3 hrs daily >= 3 days/week for >= 3 weeks
- usually resolves by 4 months

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36
Q

suspected dx? symm swelling of hands and feet age 6mo-4yrs

A

dactylitis (handfoot syndrome); early manifestation of vaso-occlusion in SCD

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37
Q

how does rubella rash differ from measles?

A
  • it does not darken

also lower fever, no koplik spots

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38
Q

what are some infectious complications of atopic dermatitis?

A
  • impetigo (s. aureus, s. pyogenes)
  • eczema herpeticum(HSV1)
  • molluscum contagiosum (poxvirus)
  • tinea corporis (trichophyton rubrum)
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39
Q

painful non-pruritic pustules w/ honey crusted adherent coating

A

impetigo

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40
Q

painful vesicular rash w/ punched out erosions and hem. crusting

A

eczema herpeticum

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41
Q

pruritic circular patch w/ central clearing and raised, scaly border

A

tinea corporis

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42
Q

where does atopic dermatitis present on body in infant vs. child/adult?

A

infant: extensor surfaces/elbows/trunk/knees/cheeks

child/adult: flexor surfaces: dorsal ankles, popliteal fossae, volar wrists, antecubital fossae, neck

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43
Q

erythematous plaques and/or yellow greasy scales on scalp, face, umbilicus, diaper. dx and tx?

A

seborrheic dermatitis

tx: 1) emollients, nonmedicated shampoos
2) topical antifungals, low potency steroids

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44
Q

when do you expect to see seborrheic dermatitis?

A
  • peaks 1st year of life AND adulthood
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45
Q

glossitis, dermatitis, GI complaint, diarrhea, mental status changes. vit def?

A

B3, niacin (condition=pellagra)

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46
Q

vit def: angular cheilosis, stomatitis, glossitis, normocytic anemia, seborrheic dermatitis

A

B2 (riboflavin)

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47
Q

vit def: cheilosis, stomatits, glossitis, irritability, confusion, depression

A

B6 (pryidoxine)

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48
Q

vit def: punctate hem, gingivitis, corkscrew hiar

A 
vit C (ascorbic acid)
def = scurvy
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49
Q

vit def: peripheral neuropathy and heart failure

A 
B1 (thiamine)
def = beriberi

dry = peripheral neuropathy

wet = dilated cariomyopathy

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50
Q

toxicity: neuropsych sx and cerebral edema

A

vit A toxicity

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51
Q

what is the other major symptom of Lesch-Nyhan syndrome besides self mutilation?

A

dystonia - hypotonia, choreoathetosis, spasticity

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52
Q

recurrent sinopulm and GI infxns after age 6months. dx?

A

x-linked agammaglobulinemia (abnormal B lymphocyte maturation)
aka Bruton agammaglobulinemia - deftect in tyrosine kinase
tx: IVIG, abx ppx

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53
Q

how do you dx X-linked agammaglobulinemia?

A

dec Ig and B cells.
normal T cell amt
no response to vaccinations!
(also will see no/low lymphoid tissue on exam)

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54
Q

severe recurrent viral, fungal, and bacterial infxns + FTT

A 
ADA def (SCID)
**autosomal recessive**

tx: BM xplant, gene therapy

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55
Q

recurrent skin and pulm infections w/ catalase pos orgs

A

CGD (impaired oxidative burst)

- defective NADPH oxidase

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56
Q

tx for hereditary spherocytosis?

A
  • folic acid supp
  • blood txfusion
  • splenectomy
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57
Q

hereditary spherocytosis

- dx and triad?

A
  • AD, esp. No. Europe
  • hemoloytic anemia, jaundice, splenomeg
  • dx: inc MCHC, spherocytes on smear, neg coombs, pos osmotic fragility (acidified glycerol lysis test), abn eosin-5-maleimide binding test
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58
Q

complications of hereditary spherocytosis?

A
  • pigment gallstones

- aplastic crises from parvovirus B19

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59
Q

hemolytic anemia, cytopenia, thrombosis. dx?

A

Paroxysmal nocturnal hemoglobinuria

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60
Q

with what kind of anemia might glucocorticoid therapy be helpful?

A

warm-agglutinin anemia (low Hb, reticulocytosis, coombs +)

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61
Q

precocious puberty, cafe au lait spots, bone defects. dx?

A

McCune-Albright

  • AD
  • often oassoc w/ other endocrine disorders
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62
Q

3 P’s of McCune Albright

A
  • precocious puberty
  • pigmentation
  • polyostotic fibrous dysplasia
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63
Q

how do you confirm a dx of pyloric stenosis?

A

abdominl U/S => thick, elongated pylorus

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64
Q

when might you see metabolic acidosis when the patient is also vomiting? (vomit usually -> alkalosis)

A

when pt also has diarrhea -> sig. loss of bicarb in stool

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65
Q

why is tetany and sz due to hypocalcemia unlikely after the NB period?

A

compensatory hyperplasia of existing parathyroid tissue

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66
Q

how do migraines present in kids compared to aduls?

A
  • often bifrontal and of shorter duration
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67
Q

indications for neuroimaging in a child w/ headache:

A
  • occipital headache
  • hx of coordination problems
  • numbness, tingling, FND
  • awakens from sleep w/ HA
  • increasing freq
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68
Q

what is seen w/ Trendelenberg sign and what is the cause?

A
  • stand on one leg, drooping of contralateral pelvis

- due to weakness of gluteus medius/minimus (superior gluteal nerve), hip abduction on side of STANDING LEG

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69
Q

how is neonatal polycythemia defined and what causes it?

A

hematocrit >65% in term babies;
cause: inc erythropoiesis from intrauterine hypoxia (maternal db, maternal htn, smoking, iugr) or erythrocyte xfusion (delayed cord clamping, twin-twin transfusion)

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70
Q

clinical prsentation and tx of neonatal polycythemia?

A

sx: ruddy skin, dec BG, resp distress, cyanosis, apnea/irritiable/jittery, abd distention
tx: partial exchange xfusion (remove blood, infuse NS) **IF asx: hydration by feeding or IVF

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71
Q

pathophys behind cystic hygroma of the neck?

A

severe obstruction of lymphatic vessels -> congenital lymphedema

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72
Q

what is the pathophys of refeeding syndrome?

A

carb ingestion -> insulin secretion -> cellular uptake of P, K, Mg -> dec. serum P, K, Mg -> inc Na/water retention -> CHF
low phos-> low ATP
low K, Mg->arrhythmia

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73
Q

inheritance pattern of myotonic dystrophy?

A

AD, CTG repeat expansion

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74
Q

problems assoc w/ myotonic dystrophy

A
  • cataracts
  • testicular atrophy
  • baldness
    (in addition to myotonia, facial weakness, foot drop, dysphagia and heart conduction abn)
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75
Q

how does squatting affect TOF?

A

increased systemic vascular resistance (afterload) => dec. R to L shunting across VSD => improves cyanosis and Increased murmur intensity (increased flow thru RVOT)

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76
Q

How do you distinguish CVID?

A
  • less severe, presents later, normal B and T cell counts
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77
Q

acute lymphoblastic leukemia

A

MC childhood cancer, male > female, age 2-5
rf: down syndrome
- can have dec or inc. WBC
>25% lymphoblasts on BM smear is diagnostic

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78
Q

until what age is intermittent strabismus considered normal (due to ocular instability of infancy)

A

<4 months

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79
Q

MCC intussusception before age 2?

A

viral illness -> Peyer patch hypertrophy (lead point)

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80
Q

MCC recurrent intussusception (older kids)

A
  • Meckel’s diverticulum
    dx w/ technetium-99m scan
    tx w/ sx
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81
Q

dx and tx of choice for fb in esophagus?

A

flexible endoscopy

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82
Q

asx scattered erythematous macules, papules & pustules throughout body of NB <2 weeks old

A

erythema toxicum neonatorum; completely benign, no tx needed

  • dx supported by sterile pustule and inc. eosinophils
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83
Q

tx for HUS?

A

supportive: fluid/elec management, blood xfusions, dialysis

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84
Q

hyper IgM syndrome

A

due to X-linked genetic defect in CD40 ligand;
tx: abx ppx
IVIG prn

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85
Q

gold standard for dx Hirschsprung?

A

rectal suction bx

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86
Q

serum sickness like reaction

A

MCC = abx
fever, urticaria, polyarthralgia 1-2 wks after 1st exposure (less common: HA, edema, LAD, splenomegaly)
- type III HSR

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87
Q

when does UGT reach adult levels?

A

2 weeks after birth. asian nb have dec UGT activity espeically (jaundice)

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88
Q

features of absence sz

A
  • occur during all activities
  • length <20 s
  • lack of response to vocal/tactile stim
  • simple automatisms present (eyelid fluttering, lip smacking)
  • usually age 4-10
  • can provoke w/ hyperventilation
  • EEG: 3hz spike wave
    tx: ethosuximide
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89
Q

Fanconi anemia

A
  • pancytopenia
  • genetic defect in genes for dna repair
  • congen anomalies: hyperpigment/cafe au lait, short stature, upper limb abn, hypogonad, skel anom, eye/eyelid changes, renal malformations
  • onset 4-12 yrs old: dec plt=> dec polys => dec rbcs
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90
Q

Diamond blackfan anemia

A
  • congenital pure red cell aplasia
  • presents first 3 months of life w/ pallor & poor feeding
  • normo/macro anemia w/ dec. retic
  • normal WBC and plt
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91
Q

transient erythroblastopenia of childhood

A
  • acquired red cell aplasia
  • onset 6mo-5 yrs
  • normocytic normochrom anemia w/ dec retic
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92
Q

sturge weber

A

acquired

  • unilat cavernous hemangioma of trigem distribution (nevus flammeus)
  • sz
  • intracranial calc
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93
Q

tuberous sclerosis

A

AD mutation

  • sz
  • adenoma sebaceum
  • facial angiofribromas
  • ash leaf spots
  • hamartomas
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94
Q

HSP

A

IgA vasculitis of small vessels

  • palp purpura on LE
  • arthralgias
  • abd pain
  • renal disease
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95
Q

how is HIV dx in infancy?

A

DNA PCR

- persistence of HIV ab after 18 months

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96
Q

within what time frame should transient synovitis resolve?

A

1-4 weeks

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97
Q

what muscle movements are limited in LCP?

A

internal rotation and abduction of the hip

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98
Q

Tourette’s dx

A

multiple motor AND one or more vocal tics before age 18, occurs many times a day, nearly every day for at least a year

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99
Q

what comorbid conditions are assoc w/ tourette’s?

A

ADHD and OCD

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100
Q

dx and tx of biliary atresia?

A
  1. U/S - absent/abn GB
  2. failure of liver to excrete tracer into SI on scintigarphy
  3. cholangiogram in OR (def. dx)

tx: 1. kasai procedure (hepatoportoenterostomy) 2. liver xplant

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101
Q

how does biliary atresia present?

A 
kid initially well
then over 1-8 weeks:
- jaundice
- acholic stool/dark urine
- hepatomegaly
- conj. hyperbili
- mild elev. LFTs
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102
Q

how does breast milk jaundice present?

A
  • 2nd week of life

- indirect hyperbilirubinemia

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103
Q

Crigler-Najjar vs. Gilbert’s syndrome

A

both are inherited def of UDP-glucuronyl xferase -> unconj. hyperbili

  • CN = absent enzyme, need liver xplant
  • Gilbert: mild
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104
Q

alloimmune hemolytic disease (erythroblastosis fetalis)

A
  • unconj hyperbili
  • Coombs + HA
  • mismatch b/w infant and maternal blood types (Rh, ABO, or minor blood group antigens)
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105
Q

timeline for physiologic jaundice?

A

unconj. hyperbili appears after first 24 hours, resolves within the first week

106
Q

age range of most breath holding spells?

A

6mo-2yrs

107
Q

reye syndrome

A

microvesicular fatty infiltration and hepatic mitochondrial dysnfunction secondary to peds aspirin use in setting of flu/varicella infxn

  • acute liver failure
  • encephalopahty
  • labs: inc LFTS, inc PT, PTT, ammonia
108
Q

breastfeeding failure jaundice

A
  • inadequate stooling/signs of dehydration

- dec. bili elim and inc. enterohepatic circ of bili

109
Q

how many wet diapers should an infant have a day in the first week?

A

wet diapers per day = infant’s age in days

110
Q

how does breast milk jaundice differ?

A

NO signs of dehydration or feeding problems

111
Q

how should NB breastfeed in first months?

A

8-12x a day (q 2-3 hours) for >=10-20 minutes per breast

112
Q

what is the threshold for phototherapy in a full term infant?

A

bili >=20 mg/dL

113
Q

when to do exchange xfusion for jaundice?

A

> = 25 mg/dL or bili-induced neuro dysfxn

114
Q

trisomy 18

A

Edwards syndrome

  • micrognathia
  • prom. occiput
  • low set ears
  • clenched hands w/ overlapping fingers
  • heart defects (VSD = MC)
  • renal defects
  • limited hip abduction
  • rocker bottom feet
115
Q

management of ITP in kids vs adults?

A

KID asx: observe
KID bleed: IVIG OR steroids

ADULT
plt 30K w/o bleed: observe
plt <30k OR bleed: IVIG OR steroids

116
Q

metatarsus adductus

A
  • flexible positioning
  • medial deviation of forefoot
  • neutral position of hindfoot
    tx: reassure!
    (MC congenital foot deformity!)
117
Q

congenital clubfoot

A
  • rigid position
  • medial/upward dev of forefoot and hindfoot
  • hyperplantar flexion of foot
    tx: serial manip and casting; sx if refractory
118
Q

what alarm symptoms differentiate orbital cellulitis from preseptal cellulitis?

A
  • ophthalmoplegia
  • pain w/ EOM
  • proptosis
  • vision impairment
119
Q

tx for cat scratch?

A

azithromycin

120
Q

Langerhans cell histiocytosis

A
  • casues solitary lytic long bone lesion
  • may be painful/swell/cause path fx
  • locally destructive but resolve spontaneously
121
Q

esophageal atresia with TEF

A
  • excessive drooling and choking, coughing, regurg w/ initial feeding attempts
  • can have polyhdramnios
  • enteric tube in prox esophagus
  • inability to pass feeding tube into stomach
  • abd distention, resp distress
  • aspiration pna is a complication
  • assoc w/ VACTERL
122
Q

presentation of congenital diaphragmatic hernia

A
  • cyanosis, resp distress after birth
  • can have polyhydramnios
  • scaphoid abdomen, displaced cardiac silhouette, bowel in thorax, gasless abdomen
123
Q

presentation of duodenal atresia

A
  • polyhydramnios and vomiting w/ initial feeds
  • NO resp distress
  • nondistended abd, no intestinal gas on XR
  • can insert gastric tubes w/o resistance
  • air in stomach and prox duodenum “double bubble sign”
124
Q

what is the other name for osgood schlatter dz?

A

traction apophysitis of tibial tubercle
(occurs where patellar tendon inserts)
- tenderness over proximal tibia

125
Q

presentation of patellar tendonitis?

A

anterior knee pain after exercise

- point tenderness at inferior pole of patella

126
Q

patellofemoral stress syndrome

A
  • common in runners
  • anterior knee pain worse when going down steps/hills
  • pain in patella
127
Q

should presumed bacterial pharyngitis be treated empirically without further confirmatory testing?

A

NO, must avoid abx if viral

- centor criteria is only for adults! (fever, tender, ant cervical LAD, tonsillar exudates, no cough)

128
Q

How is centor criteria used in adults?

A

0-1: no testing/tx
2-3: RST, tx if positive
4: empiric abx or RST

129
Q

MC brain tumor in kids?

A

low grade pilocytic astrocytoma

130
Q

how do ependymomas present in kids?

A

4th ventricle in posterior fossa -> CSF obs and inc ICP

- weakness/sz less common

131
Q

medulloblastoma

A
  • posterior fossa
  • arise from cerebellar vermis
  • vomit, HA, ataxia
132
Q

neuroblastoma

A

arise from symp ganglion cells

  • usually abd mass
  • mets: bone, liver (brain if late)
133
Q

how does pediatric viral myocarditis present?

A
  • viral prodrome (adeno or coxsackie b), then Heart Failure
  • rsp distress from acute LHF and pulm edema
  • holosystolic murmur (dilated cardiomyopathy -> mitral regurg)
  • hepatomegaly (RHF)
134
Q

dx: hypodense lesion in prox femur, worse at night, better w/ NSAIDs
and tx:

A

osteoid osteoma

- serial exams/xray every 4-5 months

135
Q

MCC proteinuria in kids?

A

TRANSIENT (from fever, exercise, seizures, stress,vol depletion)
- must repeat dipstick testing on 2 subsequent occasions

136
Q

Cow’s milk amount and timing?

A

do not start before age 1,

kids should consume <24 oz/day

137
Q

what is the cut off for managing neonatal wt loss?

A

7%

138
Q

what do you do for loss <7%

A

continue exclusive BF

- f/u age 10-14 days to check that infant regained birth weight

139
Q

what do you for loss >= 7%

A

assess for oromotor dysfxn, assess for lactation failure, daily wts, consider formula supplementation

140
Q

what are the “pink stains” in neonatal diapers?

A

uric acid crystals, commonly seen during 1st week

141
Q

primary dose limiting SE of hydroxyurea?

A

myelosuppression

142
Q

macrocytic anemia, low retic count, congenital anomalies (short stature, webbed neck, cleft lip, shield chest, triphalangeal thumbs). dx?

A

diamond blackfan syndrome (congenital hypoplastic anemia)

>90% dx w/in 1st year of life, avg age = 3months

143
Q

pure red cell aplasia WITHOUT macrocytosis. dx?

A

transient erythroblastopenia of childhood

  • usually dx after 1 year of age
  • no assoc congen anomalies
144
Q

progressive pancytopenia and macrocytosis. ~8 yrs old. assoc w/ cafe au lait spots, microcephaly, microphthalmia, short staure, horseshoe kidneys, absent thumbs

A

Fanconi’s anemia

AR disorder

145
Q

when do you do bx for MCD?

A
  • kid >10 w/ nephrotic syndrome

- any MCD unresp to steroids

146
Q

biggest RF for cerebral palsy?

A

prematurity

147
Q

how is CP characterized?

A

nonprogressive motor dysfxn

spastic, dyskinetic, or ataxic

148
Q

MCC bacterial lymphadenitis in children

A

S. aureus

149
Q

tx of bacterial meningitis in children age >1 month

A

IV vanc &ceftriaxone (OR cefotaxime)

+ dexamethasone if H flu

150
Q

how do carotid injuries present in kids?

A

mech: penetrating trauma, fall w/ object in mouth, neck manipulation
pres: gradual onset hemiplegia, aphasia, neck pain, “thunderclap HA”
dx: CT or MRA

151
Q

who is at risk for NEC besides premies?

A

very LBW infants or infants w/ reduced mesenteric perfusion from CHD

152
Q

androgen insensitivity syndrome

A 
xlinked mut of androgen receptor
\+ breast dev.
no uterus/upper vagina; cryptorchid testes
minimal/absent axillary &amp; pubic hair
karyotype: 46 XY
Inc: T, E, LH
153
Q

mullerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome)

A

hypoplastic or absent mullerian duct system
+ breast dev
absent/rudimentary uterus & upper vagina, normal ovaries
normal pubic hair
46XX

154
Q

transverse vaginal septum

A

malformation of urogenital sinus and mullerian ducts
+ breast dev
normal uterus and ovaries, abnormal vagina
normal hair
46xx

155
Q

turner syndrome

A 
complete/partial absence of 1 x chromosome
breast dev variable
normal uterus/vagina
streak ovaries
normal hair
45x
Inc: LH, FSH
156
Q

what should be done w/ cryptorchid testes in “female” child w/ androgen insensitivity syndrome?

A

perform gonadectomy after puberty

157
Q

what is an atypical presentation of HSP?

A

scrotal pain and swelling as initial symptoms

158
Q

known complications of HSP?

A

GI hem or intussuscpetion (from bowel wall edema and localized hem = lead points)
**intuss w/ HSP are MC ileo-ileal (instead of the usual ileocolic)

159
Q

how to distinguish congenital toxo from CMV?

A 
toxo = intracranial calcifications
CMV = periventricular calcifications, deafness

both: blueberry muffin rash, chorioretinitis

160
Q

congenital varicella syndrome

A
  • limb hypoplasia
  • cataracts
  • distinctive skin lesions (scarring)
161
Q

congenital syphilis

A
  • hepatomgegaly
  • nasal discharge (snuffles)
  • osteoarticular destruction
  • maculopapular rash
162
Q

congenital absence of GnRH secretion

A

Kallman syndrome

163
Q

5a reductase deficiency

A 
AR, 46XY
can't convert T to DHT
- ambiguous genitals until puberty, then increased T causes masculinization/inc growth ext. gen
- normal T/E
- LH normal or inc
- normal internal genitals
164
Q

how do you distinguish niemann-pick from tay-sachs?

A

Tay Sachs = hyperreflexic
(B hexosaminidase A def)

NP = areflexic, HSM
(sphingomyelinase def)

both: AR, Jewish heritage, onset 2-6 months, loss of motor milestones, hypotonia, feeding difficulties, cherry rad macdul

165
Q

Krabbe disease: deficiency?

A

galactocerebrosidase deficiency

166
Q

Krabbe disease

A

rare AR LSD
early infancy: develpment regression, hypotonia, areflexia

(NO cherry red macula or organomegaly)

167
Q

Gaucher disease deficiency:

A

glucocerebrosidase deficiency

168
Q

Gaucher dz

A

anemia, thrombocytopenia, HSM

NO loss of milestones, cherry red macula

169
Q

Hurler synrome

A

MPS, LSD
lysosomal hydrolase def
- presents age 6 mo-2 years: coarse facial features, inguinal/umbilical hernias, corneal clouding, HSM

170
Q

what hereditary condition can cause edema of the intestines -> colicky abd pain

A 
hereditary angioedema (C1 inhib def)
=> bradykinin
- low Cr4 levels
noninflamm edema of face, limbs, genitas
- laryngeal edema
- intestingal edema
- NO urticaria
171
Q

how can you test for diff b/w acquired and hereditary angioedema?

A

hereditary: normal C1q levels
acquired: depressed C1Q

172
Q

what does aldolase B def cause?

A

hereditary fructose intolerance due to accum of F1P

173
Q

what cells express TdT

A

pre B and pre T lymphoblasts

174
Q

tx for impetigo?

A

limited: mupirocin topical abx
extensive: oral abx (keflex, diclox, clinda)

175
Q

best dx test for kids w/ inc. Head Circ (hydrocephalus)?

A

CT brain

tx: shunt

176
Q

MCC viral meningitis

A

non-polio enteroviruses like coxsackie and echovirus

177
Q

what is the only exception to scheduling vaccines by chronologic age?

A

hep B: pt must weigh >= 2 kg

all other vaccines are okay to give to preemies on same schedule as normal kids!

178
Q

what is the physiologic effect of a val salva maneuver?

A

decreases preload

increases HOCM murmur

179
Q

what maneuvers increase afterload?

A

sustained hand grip, squatting (also inc. preload), passive

dec HOCM murmur

180
Q

what maneuver increases preload?

A

passive leg raise

181
Q

how does val salva maneuver affect murmurs?

A

louder: HCM (decreases LV volume, increase gradient)
MVP (dec LV volume)

softer: all others (dec flow through stenotic valve)

182
Q

how does standing affect murmurs?

A

(dec venous return)

same affect as val salva

183
Q

squatting affect on murmurs?

A

inc venous return (preload) inc afterload

louder: AR, MR, VSD
softer: HCM MVP

184
Q

how does handgrip affect murmurs?

A

inc afterload
louder: AR, MR, VSD

softer: HCM, AS (dec pressure gradient)

185
Q

Friedrich ataxia

A

AR, sx before age 22: neuro (gait ataxia, falls, dysarthria) from degen of spinal tracts
non neuro: concentric hypertrophic cardiomyopathy, db, skeletal deformities (hammer toes, scoliosis)

186
Q

MC predisposing factor for orbital cellulitis in kids?

A

bacterial sinusitis

187
Q

when do you get a CT head (without contrast!) in a kid 2-18 w/ head trauma?

A
  • FND
  • skull fx/basilar skull fx
  • sz
  • persistent AMS (agitated, lethargic, slow response)
    prolonged LOC
188
Q

when do you NOT need a head CT for head trauma?

A

minor head trauma: GCS of 15 w/ non severe MOI, no vomiting, HA, LOC, or fx

189
Q

when is it acceptable to either observe for 4-6 hrs or do head CT?

A

GCS 15 but any one of the following:

  • vomit
  • HA
  • questionable/brief LOC
  • high risk MOI
  • severe MOI
190
Q

what abnormality can give neuro sx in a kid with downs?

A

atlantoaxial instability

191
Q

what is atlantoaxial instability?

A

excessive laxity in posterior transverse ligament (dec mobility bw C1 and C2)
sx rare; from compression of cord: behavior change, torticollis, urinary incont, vertebrobasilar (dizzy, vertigo, diplopia)
UMN signs
dx: w/ lateral spinal XR
tx: cervical fusion

192
Q

what are the typical sx of cerebellar astrocytoma vs medulloblastoma?

A

medulloblastoma (vermis) : truncal/gait ataxia

astrocytoma (lat hem): fine motor, dysmetria, intention tremor, dysdiadochokinesia

193
Q

Parinaud syndrome

A

pressure on pretectal midbrain -> eyelid retraction, limitation of upward gaze, light-near dissoc
- assoc w/ pineal tumors

194
Q

1st steps for NB with bilious emesis?

A

stop feeds, NG decompress, IVF

then abdominal XR

195
Q

bilious emesis + KUB w/ free air, hematemesis, VS unstable?

A

surger

196
Q

bilious emesis w/ KUB: showing dilated loops of bowel?

A

get contrast enema:
microcolon = meconium ileus

rectosigmoid transition zone = Hirschsprung dz

197
Q

bilious emesis, KUB: NG misplaced in duodenum?

A

upper GI series: ligament of treitz on R side of abdomen: malrotation

198
Q

bilious emesis KUB: double bubble

A

duoudenal atresia

199
Q

when is MC to have imaginary friend?

A
  • age 3-6
    but can be anytime during school age
    this is NORMAL, and can help w/ real relationships
200
Q

differentiate Hirschspung from meconium ileus

A

assoc disorder:
H = DS
M = CF

level of obs:
H:rectosigmoid
M: ileum

mec consistency
H: normal
M: thick (“inspissated)

squirt sign
H: pos
M: neg

201
Q

until what age should infant be breasted exclusively?

A

0-6 months

202
Q

when to introduce pureed foods?

A

6 months

203
Q

when to introduce cows milk?

A

1 yr

204
Q

MC benign vasculr tumor in children?

A

superficial infantile hemangioma: capillaries separated by connective tissue (aka strawberry hemangiomas)
- blanch w/ pressure

205
Q

infantile hemangiomas

A
  • appear first days/weeks after birth
  • grow rapidly during 1-2 years
  • regress spontaneously
  • rarely disabling or lifethreatening but if so: give B blockers
206
Q

cavernous hemangiomas

A

mass of dilated sinusoidal type blood vessels primarily located in brain (can also appear on SC and skin)
- spongy red blue mass

207
Q

cherry hemangioma

A

MC benign vasc prolif in ADULTS

- usually widespread on trunk and inc w/ age

208
Q

blanchable pink-red patch MC on eyelid, glabella, midline nape of neck

A

nevus simplex

- present at birth, regress spont by age 1-2

209
Q

seconds in big ekg box?

A

0.2 s

210
Q

seconds in little ekg box?

A

0.04s

211
Q

DOC for QT prolongation syndrome?

A

propranolol (add pacemaker if symptomatic or having syncope)

212
Q

how does nonclassic CAH present?

A

late onset: late childhood w/ androgen excess: premature adrenarche/pubarche, severe cystic acne, accel. linear growth, advanced bone age

  • NORMAL lytes
  • LH low, not responsive to GnRH
213
Q

risk factors for RDS?

A 
#1 = premie
others: male sex, perinatal asphyxia, maternal db (delays maturation of surfactant production), C section w/o labor
214
Q

what factors decrease the risk for RDS?

A

intrauterine stress stimulates early fetal lung maturity:

IUGR, maternal HTN, prolonged ROM

215
Q

ratios for exudative effusions

A

pleural protein/serum protein ration >0.5
pleural LDH/serum LDH >0.6
pleural LDH> 2/3 upper limit normal for serum LDH

216
Q

types of exudative effusions

A

empyema (neutrophils, +gram stain/cx)
chylothorax (milky white, inc TG)
malignancy (abn cytology)
tb (+AFB)

217
Q

MC predisposing factor for acute bacterial sinusitis?

A

viral URI;

tx: amox clauv

218
Q

when is it okay to observe an ingested battery for spontaneous expulsion?

A

if it has already passed beyond the esophagus

219
Q

what is the cause of bleeding diathesis in pts with CF?

A

vit K def -> inc Pt and INR with normal PTT

220
Q

iron poisoning

A

sx w/in 30 min to 4 days: abd pain, hematemesis, melena/diarrhea, hypotensive shock, AGMA
w/in 2 days: hepatic necrosis
w/in 2-8 wks: pyloric stenosis

*radiopaque pills

221
Q

differential for T wave inversion?

A

MI, myocarditis, old pericarditis, myocardial contusion, digitoxin toxicity

222
Q

how to distinguish homocystinuria from marfan syndrome?

A

homocystinuria is AR, has MR, thrombosis, downward lens disloc, megaloblastic anemia, fair complexion

(Marfan = AD, aortic root dilatation, upward lens)

223
Q

deficiency in homocystinuria? and tx

A

cystathionine synthase

tx: vit B6, folate, B12, anticoag

224
Q

fabry dz

A

a-galactosidase def

  • angiokeratomas, periph neuropathy, asx corneal dystrophy
  • poss renal/heart failure and thromboembolism
225
Q

how can you distinguish herpangina (coxsackie) from herpetic gingivostomatitis (HSV)?

A

herpangina: age 3-10, summer/early fall, gray vesicles/ulcers
HSV: 6mo-5yrs, erythematous gingiva, small vesicle clusters on anterior orophrynx

226
Q

vascular ring

A

presents in infants, biphasic stridor that improves w/ neck extension

227
Q

laryngomalacia

A

inspiratory stridor, worse when supine, improves when prone

228
Q

pain jaundice and palpable mass in child <10

A

biliary cyst

dx: U/S or ERCP
tx: sx

229
Q

dx tx for pertussis?

A

dx: cx or PCR; lymphocyte-predom leukocytosis

macrolides

230
Q

MCC syndromic gynecomastia?

A

Klinefelter (XYY)

231
Q

Beckwith-Wiedemann syndrome

A

path: dysreg of imprinted gene exp in chrom 11p15
exam: hemihyperplasia, macroglossia, ompahlocele, fetal hyperinsulinism
complications: wilms tumor, hepatoblastoma
surveillance: serum AFP, abd/renal U/S

232
Q

triple bubble sign?

A

jejunal atresia; due to vascular accident in utero -> necrosis and resorption of fetal intestine

233
Q

what is craniotabes (ping pong skull) associated with?

A

vit D deficient rickets
also: delayed fontanel closure, frontal bossing, costchondral joints (rachitic rosary) lg bone joints (wrist widening)
genu varum

234
Q

how do patients with glucose 6 phosphatase deficiency present?

A

type I glycogen storage disease, von Gierke
- impaired conversion of glycogen to glucose
- age 3-4 mo: hypoglycemia-> sz, lactic acidosis
- hyperuricemia, hyperlipidemia
doll-like face w/ rounded cheeks, thin ext, short stature, protuberant abd (hepatomegaly)

235
Q

what is the reason behind what happens with Wiskott-Aldrich?

A

impaired cytoskeleton changes in leukocytes, platelets

236
Q

what should growth be like by age 12 months?

A

weight should triple, height increase by 50%

237
Q

at what ages is universal screening for dyslipidemia recommended?

A

age 9-11

age 17-21

238
Q

cutis aplasia and microphthalmia. dx?

A

Patau (trisomy 13)

cutis aplasia = lack of epidermis over skull; also assoc w/ holoprosecnephaly and omphalocele

239
Q

IUGR, microcephaly, VSD, closed fists w/ overlapping fingers, micrognathia, rocker bottom feet, prom. occiput

A

Edwards syndrome (trisomy 18)

240
Q

what are Turner syndomre patients at risk for later in life?

A

osteoporosis (lack of estrogen = lack of bone protection)

tx w/ ERT for sexual maturation and dec. osteporosis risk

241
Q

pathognomonic sign of abusive head trauma?

A

retinal hem

242
Q

how to screen for dev dysplasia of hip from age 0-12 months

A

Barlow/Ortolani positive -> refer to ortho

if negative but asymmetry:
age 2 weeks -6 mos: hip U/S
>4-6 mos: hip XR

if less than 2 weeks, don’t image, won’t show up on imaging

243
Q

DDH tx?

A

if <6 mo: Pavlik harness

if older: reduction under anesthesia

244
Q

MC complication of mumps?

A

aseptic meningitis

245
Q

MC bacteria assoc w/ CF by age?

A

<20: S. aureus

>20: pseudomonas

246
Q

features of septic arthritis of hip in kids:

A
  • fever >38.5 (101)
  • can’t bear wt
  • WBC >12,000
  • ESR >40
  • CRP>2
247
Q

up until what age is the thymus normally visible on CXR?

A

<3 years

248
Q

3 pathognomonic facial dysmorphisms for FAS?

A
  1. small palpebral fissures
  2. smooth philtrum
  3. thin vermilion border (upper lip)
249
Q

until what age should you give ppx abx for rheumatic fever?

A

RF without carditis: 5 years or until 21 years old (whichever is longer)

RF w/ carditis: 10 years or until 21

RF w/ carditits and persistent heart/valvular dz: 10 years or until 40 years old

250
Q

how is abx ppx for RF dosed?

A

IM benzathine PCN G q 4 weeks

251
Q

how is measles transmitted?

A

airborne

252
Q

leukocyte adhesion def

A

WBCs cannot extravasate -> neutrophilia
skin infxn (cellulitis, abscess, omphalocele)
mucosal infxn (periodontal)
- no pus

253
Q

comorbities of absence sz?

A

ADHD, anxiety

254
Q

findings w/ complete AV septal defect>

A

onset ~6wks
-diaphoresis/dyspnea w/ feeds
- crackles
loud S2 (pulm HTN), systolic ejection murmur (increased flow across pulm valve from ASD), holosystolic murmur ASD

255
Q

what is the coffee bean sign associated with?

A

sigmoid volvulus (usually occurs in elderly, not kids)

256
Q

lab values with thalassemia minor

A

smear: target cells and teardrop cells
normal RBC count, normal RDW
low MCV
may have slight reticulocytosis

257
Q

causes of unilateral acute cervical adenitis in kids

A

S. aureus, S. pyogenes (erythema)

anaerobes ie prevotella (dental caries, periodontal disease)

B. henselae (papular nodular at site of cat scratch/bite)

Mycobacterium avium (gradual onset, nontender)

258
Q

causes of bilateral acute cervical adenitis in kids?

A

adenovirus (pharyngoconjunctivitis)

EBV/CMV (mono)

259
Q

what is spondylolisthesis?

A

dev disorder: forward slip of vertebrae (MC L5 over S1)
displacement -> chronic back pain, neuro dysfxn
exam: palpable stepoff

260
Q

best way to evaluate for malrotation/volvulus after bilious emesis?
(NG tube, IVF, cessation of feeds, and abdominal XR have already been done)

A

upper GI series (barium swallow)

ligament of treitz on R side = malrotation

corkscrew pattern of contrast = volvulus

*****aPeds (6 decks)

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