Peds uworld review 3 Flashcards by tcarlso 3

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

HSM in NP, not in TS

- Areflexia in NP vs hyperreflexia in TS

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

Loss of motor milestones
Hypotonia
Feeding issues
Cherry red macula
HSM
Areflexia

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

Loss of motor milestones
hypotonia
Feeding issues
Cherry red macula
hyperreflexia

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Galactocerebrosidase deficiency results in what disease? S/sx?

Krabbe
MR
hypotonia
Areflexia

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Glucocerebrosidase deficiency results in what disease? S/sx?

Gaucher’s disease
Anemia
Thrombocytopenia
HSM
NO loss of milestones

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

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

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

Precocious puberty
Cafe-au-lait spots
Polyostotic fibrous dysplasia (bone fractures)

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

Osteoporosis d/t failure of streaked ovaries to produce estrogen

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Coffee bean sign on AXR = ?

Sigmoid volvulus

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What enzyme is deficient in the severe form of galactosemia?

Galactose-1-phosphate uridyl transferase

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

Jaundice
Hypoglycemia
Cataracts
FTT

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

Cataracts only

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

Fasting hypoglycemia
hepatomegaly
Doll like face
Hyperuricemia

-Glucose-6-phosphatase deficiency

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

Hypoketotic hypoglycemia with fasting

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

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

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What are the heart sounds of tetralogy of fallot?

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What are the heart sounds heard with Ebstein anomaly?

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

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What are the heart sounds of truncus arteriosus?

Loud ejection click at the left sternal border.

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

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

More than 1 cm
Villous
3 or more

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

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

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What differentiates androgen insensitivity vs Mullerian agenesis, besides karyotype?

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

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What is the treatment for localized impetigo?

Topical abx like mupirocin

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

1000 mg/dL

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

VSD

What two heart conditions are associated with DiGeorge syndrome?

Transposition | Truncus

When should the treatment of clubfoot take place?

Immediately

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

- AD trinucleotide repeat on the dystrophia myotonica protein kinase gene. - Myotonia - Dysphagia - Conduction abnormalities - Testicular atrophy

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

- Nafcillin/oxacillin - Add 3rd gen cephalosporin if salmonella - Use vanco if MRSA

What is the treatment for mobitz type I hear block?

Benign--no treatment needed

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

``` I = AV node II = Below the AV node ```

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

- I = improves with exercise, worsens with vagal | - II worsens with exercise, improves with vagal maneuvers

What is the sail sign on CXR of an infant?

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

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

- Benign = "happy spitter" | - Path = FTT, significant irritability

What action can pts with retropharyngeal abscesses not perform?

Extension of the neck

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

If prevertebral space is large than the vertebral bodies

What is endophthalmitis? S/sx?

Inflammation of the interior of the eye-most often caused by surgery - Severe pain - vision loss - conjunctival injection

What is hypopyon?

Inflammatory cells in the anterior chamber of the eye

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

False

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

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

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

True

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

- 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).

Where on the skin does dermatitis herpetiformis usually occur?

Extensor surfaces

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

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

How can hypothyroidism lead to HTN?

Increased metanephrine and aldosterone levels

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

Ant-Scl 70 | -Anti RNA pol III

What are the antibodies found in limited scleroderma?

Anti Centromere abs

What is the treatment for prolonged QT syndrome?

beta blocker and a pacer

What is Jervell and Lange-Nielsen syndrome?

-AR long QT syndrome with associated sensorineural deafness

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

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

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

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

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

Hypo

How can hyperthyroidism lead to osteoporosis?

Stimulates osteoclasts

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

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

What is bullous myringitis?

Blister on TM. Supportive care indicated.

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

FTA-ABs

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

Syphilis has LAD, whereas klebsiella does not

What is a pathergy test?

- 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

Which diuretics are associated with pancreatitis? (2)

furosemide | thiazides

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

5-ASA | Sulfasalazine

Which immunosuppressive drug is associated with pancreatitis?

Azathioprine

Which abx are associated with pancreatitis? (2)

Metronidazole | Tetracycline

Which antiepileptic drug causes pancreatitis?

Valproic acid

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

Genetic testing

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

With secondary = 16 years | Without secondary = 14 years

What happens to MCV with hydroxyurea?

Macrocytosis

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

True