High Yield Flashcards
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.