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?
Trauma.
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.
