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High Yield Flashcards

1
Q

3 mo old, frog-leg position,

A
  • SMA 1- Werdnig Hoffmann Disease.

- Most die before age 2.

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2
Q

Clumsiness and frequent falls. Lower leg decreased muscle bulk and appears “stork-like”. Multiple small injuries on hands and feet. Pes cavus and claw hand

  • Dx?
  • Tests?
  • Tx?.
A
  • Marie-Charcot- Tooth Disease.
  • Decreased motor/ sensory nerve velocity, sural nerve bx. *CPK is normal.
  • Stabilizes ankles w/ surgical fusion. Normal life span and most remain ambulatory.
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3
Q

Difficulty with balance, no DTRs, bilateral Babinski, and explosive, dysarthric speech.

  • Dx?
  • MC cause of death?
A
  • Friedrich Ataxia (AR; trinucleotide repeat).

- HOCM –> CHF.

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4
Q

2 yo: Gait disturbance, loss of intellectual fxn, nystagmus and optic atrophy. Cresyl violet –> metachromatic staining.

  • Dx?
  • Pathophys?
A
  • Metachromatic leukodystrophy (AR)

- Deficiency of arylsulfatase A –> accum cerebroside sulfate.

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5
Q

12 yo: decreased school performance, behavior changes, ataxia, spasticity, hyperpigmentation, increase K, decrease Na, acidosis.
- Prognosis?

A
  • Adrenoleukodystrophy XLR

- Death within 10 years

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6
Q

9 mo: Previously reaching milestones, starts to lag. Seizures, hypotonia, cherry red macula.
- Pathophys?

A
  • Tay-Sachs XLR

- Deficiency hexoaminidase A –> accum GM2.

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7
Q

1 yo: fever to 102.4. 3-4 minute tonic-clonic seizure.

  • Dx?
  • Next best step?
A
  • Febrile Seizure

- Give APAP. No increased risk for epilepsy.

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8
Q

8 yo: Staring into space, episodes last only seconds, lip smacking, and no post-ictal state.
- Dx, common EEG finding, and tx?

A
  • Absence Seizure
  • 3 Hz spike and wave discharge.
  • Ethosuxamide and valproic acid.
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9
Q

6 mo: Multiple symmetric contraction episodes of neck, trunk, extremities that occur in spells.

  • Dx?
  • Common EEG finding?
  • Best Tx?
A
  • Infantile Spasms
  • Hypsarrhythmia= asynchronous, chaotic, bilat.
  • ACTH. Prednisone is 2nd line.
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10
Q

Meningocele or myelomeningocele…

A

Do head CT looking for hydrocephalus (Arnold Chiari II).

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11
Q

Infant with head circumference > 95th%?

A

Consider hydrocephalus. Also bulging fontanelle, increased DTRs, HA, vomiting.

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12
Q

Non-communicating Hydrocephalus?

A

Stenosis of cerebral aqueduct or tumor/ malformation near 4th ventricle.

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13
Q

Communicating Hydrocephalus?

A

SAH, pneumococcal/ TB meningitis, leukemia.

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14
Q

Infant with increasing head size, prominent occiput, cerebellar atxia, and delayed motor development.

  • Dx?
  • CT or MRI?
A
  • Dandy-Walker malformation.

- Cystic expansion of 4th ventricle. Can see agenesis of cerebellar vermis.

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15
Q

Kid with limp. MC cause?

A

Trauma.

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16
Q

18mo: asymmetric gluteal folds on exam.

- Dx, RF, and Tx?

A
  • Developmental hip dysplasia.
  • 1st born female. +FH, breech position.
  • Clunk on Barlow. U/S of hip if unsure. Tx w/ Pavlik harness (surgery)
17
Q

5yo: Initially with painless limp and now has pain in his thigh.

A

Legg-Calve-Perthes Disease (Avascular necrosis)

18
Q

5yo: Initially with a cold 1 wk ago now presents with limp and effusion in hip. X-rays normal and ESR is 35 (increased), T= 99.8, WBCs= 10 K.
- Dx and next best step?

A
  • Bed rest 1 wk and NSAIDS.
19
Q

14yo: Lanky M w/ nagging knee pain and decreased ROM of the hip on exam.
- Dx and Tx

A
  • SCFE (Slipped Capital Femoral Epiphysis). Remember they’re not always fat.
  • Surgically close and pin the epiphysis to avoid osteonecrosis.
20
Q

14yo: Basketball player knee pain and swelling of the tibial tubercle.

A
  • Osgood-Schlatter.

Overuse injury from jumping.

21
Q

2 week h/o daily fevers to 102 and salmon colored evanescent rash on trunk, thighs, and shoulders. Left knee and right knee swollen.

  • Dx?
  • Good prognostic factor?
  • Bad?
  • Tx?
A
  • Juvenile Rheumatoid Arthritis
    • ANA
    • RF; also polyarticular and older age @ onset.
  • 1st line: NSAIDs, 2nd line: methotrexate, 3rd: steroids.
22
Q

2yo: 2 week h/o of daily fevers to 102, and desquamating rash on perineum. Swollen hands and feet, conjunctivitis, and unilateral swollen cervical lymph node.
- Dx?
- Other lab findings?
- Best 1st test?
- Treatment?
- Most serious sequellae?

A
  • Kawasaki
  • Increased platelets (wk 2-3, urine WBC, LFTs, CSF protein.
  • 2D echo and EKG. Repeat echo after 2-3 weeks of tx.
  • Acute= IVIG + high dose aspirin. Then ASA and warfarin.
  • Most serious sequellae? Coronary artery aneurysm or MI.
23
Q
A
  • Ewing sarcoma.

- Rads and/or surgery.

24
Q

> 10yo: “Sunburst” and “Codman’s triangle” on xray.

  • Dx?
  • Tx?
A
  • Osteogenic sarcoma

- Chemo and/or surgery.

25
More diffuse bone pain in a patient w/ petchiae, pallor, and increased infections.
Don't forget bone pain can be a presenting sx for leukemia.
26
2yo: fever 105, pink, macular papular rash on trunk, arms, and legs. (spares the face)
- Roseola-HHV6
27
2yo: low grade fever, lacy reticular rash on cheeks and upper body (spares palms/soles) - Dx? - Who is this bad for?
- 5th disease, erythema infectiosum, Parvovirus B19. | - preggos, sickle cell, thalssemia.
28
Cough, runny nose, fever, macular rash begins behind ears and spreads dwon. Gray spots on the buccal mucosa. - Dx? - Tx?
- Measles (paramyxovirus) | - Vitamin A and supportive care.
29
Sore throat, joint pain , fever. Pinpoint rash that spreads down. Rose spots on palate. - Dx? - Complications?
- Rubella | - Congenital rubella syndrome.
30
Baby with poor feeding. Vesicles in mouth on palms and soles and rash on buttocks.
Hand foot and mouth disease (Coxsackie virus A16).
31
16 yo M: Swollen parotid glands, fever, and HA. - Dx? - Complications?
- Mumps (paramyxovirus) | - Orchidis and sterility.
32
Fine, mac-pap desquamating rash begins on chest and spreads to neck, trunk, and extremities, and strawberry tongue. Sore throat 1-2 weeks prior. - Dx? - Tx?
- Scarlett Fever (GAS) | - PCN prevents rheumatic fever (won't help reduce changes of APSGN)
33
6 yo: central PA, went camping. Had fever. | - Dx, complications, treatment?
- Lyme disease (Borrelia burgorferi) - Arthritis, heart block, meningitis, Bell's. - Amoxicillin for kid. Doxycycline > 8 years old.
34
6 yo: From coastal NC, went camping, had fever, myalgias, and pain. - Dx? - Complications? - Treatment?
- Rocky Mountain Spotted Fever, Rickettsia rickettsii. - Vaculitis and gangrene. - Doxy no matter what age.
35
8 yo: Multiple excoriations on arms. Itchy at night. | - Dx and Tx?
- Scabies! | - 5% permetrin for whole family.
36
Honey-colored crusted plaque on face. - Dx? - Tx?
- Impetigo. MC bug is staph if bullus. | - Staph Scalded Skin Syndrome From Exfoliative Toxin.
37
Meningitis. - MC bugs? - In young and immune suppressed? - In ppl w/ brain surg? - Randoms?
- Strep pneumo, H. influenza, N. meningitidis (Tx w/ ceftriaxone and vanco) - Add lysteria. (Tx w/ Ampicillin) - Add staph (tx with vanco) - TB (RIPE + 'roids) and Lyme (IV ceftriaxone)

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