Neuro Eval of Children Flashcards
how to test motor system
tone assessment more important than strength; resistance to passive movement
things to assess in history
pregnancy, labor, and deliver
prenatal factors
pre and perinatal factors (genetics, family history)
perinatal events
tone is what relatd
state
- SPINAL MUSCULAR ATROPHY
genetcs
Autosomal recessive–• Locus on 5q13, containing (SMN1) identified as the SMA disease gene
how does SMN1 work
• SMN1 duplicated with highly homologous copy SMN2; both transcribed
–SMN2 gene present in SMA pts but not able to compensate for SMN1 deficiency
enough copes of SMN2
older onset or dsease goes away
s/s of spnal muscular atophy
Symmetric mm. weakness Atrophy
Absent DTR
Tongue fasciculations
Tremor –
SMA • Werdnig-Hoffman disease
type 1
infantile onset
• Weakness, hypotonia within first 6 months
• Death in first 2 years; No treatment
SMA type 2
(intermediate)
• Sit, cannot stand or walk
SMA type 3
(Kugelberg-Welander) – Proximal weakness after 18 months
• Walk, do not run
charcot mare tooth
• Most commonly inherited peripheral neuropathy
CMT etology
Majority are AD (CMT1 and CMT 2)
• Peripheral nervous system myelin protein mutations (PMP22)
• Includes all peripheral nerves
how does PMP 22 work?
• If mutated → Loose/floppy myelin destroyed by the body b/c it is not tightly wound, compacted
s/s CMT
- Progressive distal weakness, foot drop
- Steppage gait
- Mild sensory loss
- Depressed DTRs, heelcord contractures, high arches with hammer toes
- Inverted champagne bottle legs – Muscular thigh with skinny gastrocnemius
prognoss CMT
normal lfespan
Tx CMT
• Orthopedic support, bracing
Congenital forms MG
- Transient neonatal (mother with MG) via passive transfer of Abs
- Congenital MG: some other defect at the NMJ
Dystrophin
very large subsarcolemmal protein that acts as a “shock absorber”
lack of dystrphn
→ muscle contracts → membrane will fracture
Dystrophin associated proteins (DAPs):
transmembrane and extracellular complexes
Gower’s Maneuver
Sit cross legged and stand up not using the wall nor a parent
–>Butt first and then crawl up their legs
duchenne muscuar dstrophy
dx duchennes
prev muscle, now blood test
prognosis DM
wheelchar bound at 11-12 years
tx DM
Use steroids to delay hitting wheelchair by 10-12 months
• Eteplirsen infusion:
Eteplirsen infusion
new compound that is only useful in 10% of patient (need specific stop codon mutataion) → skips reading frame stop codon → “good enough” dystrophin protein produced
NF1 genes
- Autosomal dominant with variable penetrance
- Long arm chromosome 17
- Gene function as a tumor/growth suppressor
NEUROFIBROMATOSIS 2 genes
- Autosomal dominant
* Chromosome 22q11
NF1 path
• Café-au-lait spots (CAL): light brown macules
o Aggregations of neural-crest derived melanoblasts in basal layer of epidermis
• Neurofibromas: fleshy tumor that appears with age and enlarges
o Usually pea-sized
• Plexiform neuroma: large tumors that may cause pain, overgrowth of a limb
• Lisch nodules: iris hamartomas
NF2 path
• Schwannomin: links membrane proteins to cytoskeleton
o If absent → loss of cell contact inhibition
NF1 symptoms
mult. tumors in CNS and PNS
- -neurofibromas along periph nerve
- Cutaneous pigmentation
- Cutaneous pigmentation
- Cognitive disabilities
most common neurofibroma
o Optic nerve gliomas
NF2 symptoms
- Bilateral vestibular schwannomas (acoustic neuroms is a misnomer) affect 95% of patients
- a/w multiple other CNS tumors, meningiomas, gliomas
- TUBEROUS SCLEORIS genes
- Autosomal dominant
- 1/3 of cases are familial
- Majority are spontaneous
- Two genetic loci
- TSC 1 (9q)
- TSC 2 (16p)
s/s - TUBEROUS SCLEORIS
• Mental deficiency
Epilepsy/seizures
• Skin lesions
• Abnormalities in brain, eyes, skin, kidney, bones, heart, and lungs
path
- Tubers: hamartomatous lesions involving gliotic tissue, astrocytes, disordered cortex; may be calcified
- Subependymal nodules “candle gutterings”
- Giant cell astrocytomas (5%) → Foramen of Monro impedance → hydrocephalus
Dx TS
- MRI diagnostic in majority of cases
- Cloudy patches, even present in newborns
- Wood’s lamp examination important for infant with unexplained seizures
Tx TS
- Surgery is now routine for epilepsy to remove tumor and surrounding tissue
- Serial re-evaluations of heart, kidney, and brain
sturge weber genes
• Spontanous mutation, not familial
patho sturge weber
• Venous angioma of leptomeninges
s/s sturge weer
• Ipsilateral facial “port-wine stain”
congenital glaucoma
• Early onset seizures in up to 90%
- Hemiplegia, hemianopia (progressive)
- Intellectual disability in 40% of patients
DX sturge weber
• MRI with contrast
tx sturge weber
• Early onset seizures/catastrophic epilepsy is an indication for hemispherectomy in a baby
- AGE-DEPENDENT EPILEPTIC ENCEPHALOPATHIES a/w
• PKU, tuberous sclerosis, Aicardi syndrome, trisomy 21, pyridoxine dependency, many others
• Risk of generalized tonic-clonic seizures after - ABSENCE SPECTRUM
50% overall
• If untreated, until you outgrow it
70% outgrow by puberty
BENIGN ROLANDIC EPILEPSY genes•
• Autosomal dominant, incomplete penetrance
s/s BENIGN ROLANDIC EPILEPSY
- Onset 2-14 years with 85% between 4-10 years
- Simple partial seizures are the main seizure type
- 50% have < 5 seizures
- 8% have > 20 seizures
- A/w learning disabilities
EEG BRE
centro-temporal spikes, activated by sleep
occur when pt asleep
prognoss BRE
• Outgrown by 16-18 years; “nice epilepsy to deal with b/c you can be reassured that it’s going to go away”
- FEBRILE SEIZURES
- FEBRILE SEIZURES are ot
consdered eplsepy
s/s febrle sezures
- Onset between 6 months to 6 years with peak at 16-18 months
- Age of onset is a risk factor for recurrence
prog febrle sezures
- Typically outgrow them
- Risk for epilepsy
- Simple febrile seizure 1-2%
- Complex febrile seizure 20-40%
