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Flashcards in High Yield Deck (37)
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3 mo old, frog-leg position,

- SMA 1- Werdnig Hoffmann Disease.
- Most die before age 2.


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?.

- 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.


Difficulty with balance, no DTRs, bilateral Babinski, and explosive, dysarthric speech.
- Dx?
- MC cause of death?

- Friedrich Ataxia (AR; trinucleotide repeat).
- HOCM --> CHF.


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

- Metachromatic leukodystrophy (AR)
- Deficiency of arylsulfatase A --> accum cerebroside sulfate.


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

-Adrenoleukodystrophy XLR
- Death within 10 years


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

-Tay-Sachs XLR
- Deficiency hexoaminidase A --> accum GM2.


1 yo: fever to 102.4. 3-4 minute tonic-clonic seizure.
- Dx?
- Next best step?

- Febrile Seizure
- Give APAP. No increased risk for epilepsy.


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

- Absence Seizure
- 3 Hz spike and wave discharge.
- Ethosuxamide and valproic acid.


6 mo: Multiple symmetric contraction episodes of neck, trunk, extremities that occur in spells.
- Dx?
- Common EEG finding?
- Best Tx?

- Infantile Spasms
- Hypsarrhythmia= asynchronous, chaotic, bilat.
- ACTH. Prednisone is 2nd line.


Meningocele or myelomeningocele...

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


Infant with head circumference > 95th%?

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


Non-communicating Hydrocephalus?

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


Communicating Hydrocephalus?

SAH, pneumococcal/ TB meningitis, leukemia.


Infant with increasing head size, prominent occiput, cerebellar atxia, and delayed motor development.
- Dx?
- CT or MRI?

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


Kid with limp. MC cause?



18mo: asymmetric gluteal folds on exam.
- Dx, RF, and Tx?

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


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

Legg-Calve-Perthes Disease (Avascular necrosis)


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?

- Bed rest 1 wk and NSAIDS.


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

- SCFE (Slipped Capital Femoral Epiphysis). Remember they're not always fat.
- Surgically close and pin the epiphysis to avoid osteonecrosis.


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

- Osgood-Schlatter.
Overuse injury from jumping.


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?

- Juvenile Rheumatoid Arthritis
- + ANA
- + RF; also polyarticular and older age @ onset.
- 1st line: NSAIDs, 2nd line: methotrexate, 3rd: steroids.


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?

- 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.


- Ewing sarcoma.
- Rads and/or surgery.


> 10yo: "Sunburst" and "Codman's triangle" on xray.
- Dx?
- Tx?

- Osteogenic sarcoma
- Chemo and/or surgery.


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.


2yo: fever 105, pink, macular papular rash on trunk, arms, and legs. (spares the face)

- Roseola-HHV6


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.


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.


Sore throat, joint pain , fever. Pinpoint rash that spreads down. Rose spots on palate.
- Dx?
- Complications?

- Rubella
- Congenital rubella syndrome.


Baby with poor feeding. Vesicles in mouth on palms and soles and rash on buttocks.

Hand foot and mouth disease (Coxsackie virus A16).


16 yo M: Swollen parotid glands, fever, and HA.
- Dx?
- Complications?

-Mumps (paramyxovirus)
- Orchidis and sterility.


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)


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.


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.


8 yo: Multiple excoriations on arms. Itchy at night.
- Dx and Tx?

- Scabies!
- 5% permetrin for whole family.


Honey-colored crusted plaque on face.
- Dx?
- Tx?

- Impetigo. MC bug is staph if bullus.
- Staph Scalded Skin Syndrome From Exfoliative Toxin.


- 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)