pediatric neurology Flashcards
what is an APGAR score
a test given to newborns at 1 and 5 mins post birth to check for normal functions
A - appearance
P - pulse
G - grimace
A - activity (tone)
R - respiration
what 4 things are important in paediatric history
- antenatal history;
- perinatal history;
- birth history (pre-eclampsia, HTN etc.);
- developmental history (visual e.g. early cataracts, behavioural -> sudden change?, social, speech etc.);
when inspecting a child’s posture, what should be looked at (4)
- sitting/lying posture;
- symmetry;
- pronator drift;
- abnormal spontaneous movements
4 examples of abnormal spontaneous movements that may indicate neuro disease
- tremor
- chorea
- athetosis (abnormal muscle contraction causes involuntary writhing movements)
- dystonia (tone normal if relaxed by abnormal if agitated)
what sign might indicate a IX/X problem in a child
weak cry
what is myotonia
a neuromuscular condition were there is sustained muscle contractions => relaxation is impaired
often limbs are stuck in a certain position
what is congenital myotonic dystrophy
an autosomal dominant trinucleotide repeat expansion neuromuscular disorder with multisystem involvement -> hypotonia and severe muscle weakness, myotonia is absent in childhood
5 CNS causes of hypotonia in infancy
- chromosome disorders (prader-willi);
- metabolic disorders;
- SC injuries;
- cerebral dysgenesis;
- hypoxic ischemic injuries
what is prader-willi syndrome
a rare congenital condition characterized by excessive appetite, often leading to morbid obesity, and a variety of other signs including intellectual disability, hypotonia and short stature - chromosome 15 mutation
motor neuron cause of hypotonia in infancy
spinal muscular atrophies
2 NMJ causese of hypotonia in infancy
- congenital/transietn myasthenia gravis;
- infantile botulism
3 nerve causes of hypotonia in infancy
- congenital hypomyelinating neuropathy;
- familial dysautonomia;
- infantile neuraxonal degeneration
what is lissencephaly
“smooth brain” - a rare, gene-linked brain malformation characterized by the absence of convolutions (folds) in the cerebral cortex and an extremely small head -> low muscle tone and generally wheelchair bound
what is spinal muscular atrophy
a genetic condition that causes muscle weakness and atrophy -> deficit of survival motor neuron 1 (SNM1) and malfunction of SMN2
why are contractions seen in children with spinal muscular atrophy
they couldn’t move in utero and so developed contractures
spinal muscular atrophy presentation
hip adduction; inability/poor ability to crawl, walk and control head lifting
if a child presents w myotonia, what else should be checked
check the parents for myotonia -> it is often genetics
what causes hypertonia geerally
UMN lesion
what is schizencephaly
a rare birth defect characterized by abnormal slits in the cerebral hemispheres
what is kernicterus and what can it lead to
unconjugated bilirubin-induced neurological damage (high levels of bilirubin in the brain) -> may lead to dystonic cerebal palsy
MRC power grading scale
0 - no movement
1 - flicker
2 - movement with gravity eliminated
3 - movement against gravity but without resistance
4 - movement against resistance
5 - normal power
nerve roots used in arm abduction
C5, C6 (supraspinatous initially then deltoid)
nerve roots used in forearm flexing
C5, C6 (biceps)
nerve roots used in elbow extention
C6, C7 (triceps)
