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a2 > Peds uworld review 3 > Flashcards

Peds uworld review 3 Flashcards

1
Q

What are the key clinical differentiating factors between Niemann-Pick’s disease and Tay-sach’s?

A
  • HSM in NP, not in TS

- Areflexia in NP vs hyperreflexia in TS

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2
Q

What are the clinical manifestations of Niemann-Pick’s?

A
  • Loss of motor milestones
  • Hypotonia
  • Feeding issues
  • Cherry red macula
  • HSM
  • Areflexia
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3
Q

What are the clinical manifestations of Tay-Sach’s disease?

A
  • Loss of motor milestones
  • hypotonia
  • Feeding issues
  • Cherry red macula
  • hyperreflexia
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4
Q

Galactocerebrosidase deficiency results in what disease? S/sx?

A
  • Krabbe
  • MR
  • hypotonia
  • Areflexia
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5
Q

Glucocerebrosidase deficiency results in what disease? S/sx?

A
  • Gaucher’s disease
  • Anemia
  • Thrombocytopenia
  • HSM
  • NO loss of milestones
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6
Q

How do the cafe au lait spots between NF1 and McCune albright syndrome compare?

A

McCune albright are larger, and not associated with inguinal/axillary freckling

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7
Q

What is the classic triad of symptoms for McCune Albright syndrome?

A
  • Precocious puberty
  • Cafe-au-lait spots
  • Polyostotic fibrous dysplasia (bone fractures)
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8
Q

Pts with Turner syndrome are at increased risk of what disease once elderly? Why?

A

Osteoporosis d/t failure of streaked ovaries to produce estrogen

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9
Q

Coffee bean sign on AXR = ?

A

Sigmoid volvulus

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10
Q

What enzyme is deficient in the severe form of galactosemia?

A

Galactose-1-phosphate uridyl transferase

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11
Q

What are the classic s/sx of the severe form of galactosemia?

A
  • Jaundice
  • Hypoglycemia
  • Cataracts
  • FTT
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12
Q

What are the s/sx of galactosemia if galactokinase enzyme is deficient?

A

Cataracts only

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13
Q

What are the classic s/sx of Von Gierke’s disease? What causes this disease?

A
  • Fasting hypoglycemia
  • hepatomegaly
  • Doll like face
  • Hyperuricemia

-Glucose-6-phosphatase deficiency

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14
Q

What are the lab findings of medium-chain CoA deficiency?

A

Hypoketotic hypoglycemia with fasting

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15
Q

What heart sounds are commonly heard with complete AV septal defect? (3)

A
  • Loud S2 2/2 pHTN
  • Systolic ejection murmur from increased flow across pulmonary valve
  • Holosystolic VSD
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16
Q

What are the heart sounds of tetralogy of fallot?

A
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17
Q

What are the heart sounds heard with Ebstein anomaly?

A

Widely split S1 and S2 sounds, plus a loud S3 or S4. (“triple gallop”)

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18
Q

What are the heart sounds of truncus arteriosus?

A

Loud ejection click at the left sternal border.

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19
Q

What is the underlying defect in Fanconi anemia? s/sx?

A
  • AR or XLR loss of DNA chromosomal repair mechanisms
  • Aplastic anemia with progressive bone marrow failure.
  • Short stature, microcephaly, abnormal thumbs, and hypogonadism
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20
Q

What type of colonic polyps (size, shape, number) confer a high risk of malignant potential?

A
  • More than 1 cm
  • Villous
  • 3 or more
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21
Q

What is the presentation of 5-alpha-reductase deficiency?

A

46 XY with male internal genitalia, but ambiguous external genitalia until after puberty

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22
Q

What differentiates androgen insensitivity vs Mullerian agenesis, besides karyotype?

A

-Androgen insensitivity have male internal genitalia, since mullerian inhibitory factor still present

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23
Q

What is the treatment for localized impetigo?

A

Topical abx like mupirocin

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24
Q

Serum triglyceride levels must be over what level to be considered a cause of pancreatitis?

A

1000 mg/dL

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25
Q

What is the most common congenital heart abnormality in pts with trisomy 18?

A

VSD

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26
Q

What two heart conditions are associated with DiGeorge syndrome?

A

Transposition

Truncus

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27
Q

When should the treatment of clubfoot take place?

A

Immediately

28
Q

What is the inheritance pattern and defect with myotonic muscular dystrophy (steinert disease)? S/sx?

A
  • AD trinucleotide repeat on the dystrophia myotonica protein kinase gene.
  • Myotonia
  • Dysphagia
  • Conduction abnormalities
  • Testicular atrophy
29
Q

What is the treatment for osteomyelitis when staph/strep is suspected? Salmonella (e.g. SCD pts)?

A
  • Nafcillin/oxacillin
  • Add 3rd gen cephalosporin if salmonella
  • Use vanco if MRSA
30
Q

What is the treatment for mobitz type I hear block?

A

Benign–no treatment needed

31
Q

Where anatomically does the block occur with Mobitz type I and II respectively?

A 
I = AV node
II = Below the AV node
32
Q

What happens to the block in mobitz type I and II with exercise/atropine? Vagal maneuvers?

A
  • I = improves with exercise, worsens with vagal

- II worsens with exercise, improves with vagal maneuvers

33
Q

What is the sail sign on CXR of an infant?

A

The shape the thymus makes is like a sail in the right upper chest, just lateral to the sternum

34
Q

What is the difference of benign vs pathological GERD in infants?

A
  • Benign = “happy spitter”

- Path = FTT, significant irritability

35
Q

What action can pts with retropharyngeal abscesses not perform?

A

Extension of the neck

36
Q

How is a retropharyngeal abscess assessed for on a lateral neck x-ray?

A

If prevertebral space is large than the vertebral bodies

37
Q

What is endophthalmitis? S/sx?

A

Inflammation of the interior of the eye-most often caused by surgery

  • Severe pain
  • vision loss
  • conjunctival injection
38
Q

What is hypopyon?

A

Inflammatory cells in the anterior chamber of the eye

39
Q

True or false: pupillary light reflex is intact in brain dead pts

A

False

40
Q

True or false: heart rate acceleration with atropine injection still occurs when brain dead

A

False–total loss of vagal activity, so heart rate does not change

41
Q

True or false: DTRs are still present in brain dead pts

A

True

42
Q

When and how does chlamydial vs gonococcal conjunctivitis present? What is the treatment for each?

A
  • Gonococcal = 2-5 days after birth, with purulent d/c. IM cephalosporin
  • Chlamydia = 5-14 days after birth, mucopurulent/watery d/c . Oral erythromycin (topical only effective for prevention, not treatment).
43
Q

Where on the skin does dermatitis herpetiformis usually occur?

A

Extensor surfaces

44
Q

What is the major difference between non-classical CAH vs leydig cell tumors?

A

leydig cell tumors will have all the s/sx of precocious puberty like nonclassic CAH, but will have a testicular mass associated with it.

45
Q

How can hypothyroidism lead to HTN?

A

Increased metanephrine and aldosterone levels

46
Q

What are the antibodies that are found in Diffuse cutaneous systemic sclerosis?

A

Ant-Scl 70

-Anti RNA pol III

47
Q

What are the antibodies found in limited scleroderma?

A

Anti Centromere abs

48
Q

What is the treatment for prolonged QT syndrome?

A

beta blocker and a pacer

49
Q

What is Jervell and Lange-Nielsen syndrome?

A

-AR long QT syndrome with associated sensorineural deafness

50
Q

What class of antiarrhythmics are contraindicated with congenital long QT syndromes?

A

Class III, since they inhibit K channels and prolong the QT

51
Q

What is the difference between euthyroid sick syndrome, and subclinical hypothyroidism?

A
  • Euthyroid sick = low free T3 d/t low conversion of T4. All other labs normal.
  • Subclinical = elevated TSH, with normal T4
52
Q

Which carry a risk of malignancy: hyper or hypofunctioning thyroid nodules?

A

Hypo

53
Q

How can hyperthyroidism lead to osteoporosis?

A

Stimulates osteoclasts

54
Q

An innocent murmur in a child should increase or decrease with laying down?

A

Maneuvers that decrease venous blood return to the heart should decrease intensity of murmur

55
Q

What is bullous myringitis?

A

Blister on TM. Supportive care indicated.

56
Q

Which test has the higher sensitivity: RPR/VDRL or the treponemal FTA-ABs test?

A

FTA-ABs

57
Q

Both syphilis and klebsiella granulomatis infection present with progressive, painless ulcer(s). How can you differentiate between them?

A

Syphilis has LAD, whereas klebsiella does not

58
Q

What is a pathergy test?

A
  • Used for diagnosing Behcet’s syndrome
  • 2- gauge needle is inserted into the skin, and the site is checked 24-48 hours later for the development of a 2+mm papule
59
Q

Which diuretics are associated with pancreatitis? (2)

A

furosemide

thiazides

60
Q

Which drugs used to treat IBD are associated with pancreatitis? (2)

A

5-ASA

Sulfasalazine

61
Q

Which immunosuppressive drug is associated with pancreatitis?

A

Azathioprine

62
Q

Which abx are associated with pancreatitis? (2)

A

Metronidazole

Tetracycline

63
Q

Which antiepileptic drug causes pancreatitis?

A

Valproic acid

64
Q

What is the best test to diagnose duchene’s muscular dystrophy?

A

Genetic testing

65
Q

When does primary amenorrhea require workup (wwo secondary sex characteristics)?

A

With secondary = 16 years

Without secondary = 14 years

66
Q

What happens to MCV with hydroxyurea?

A

Macrocytosis

67
Q

True or false: a bimanual exam in female children is never indicated, unless a large FB is present

A

True

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