pediatric neurology

Question 1

what is an APGAR score

Answer 1

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

Question 2

what 4 things are important in paediatric history

Answer 2

1. antenatal history;
2. perinatal history;
3. birth history (pre-eclampsia, HTN etc.);
4. developmental history (visual e.g. early cataracts, behavioural -> sudden change?, social, speech etc.);

Question 3

when inspecting a child’s posture, what should be looked at (4)

Answer 3

1. sitting/lying posture;
2. symmetry;
3. pronator drift;
4. abnormal spontaneous movements

Question 4

4 examples of abnormal spontaneous movements that may indicate neuro disease

Answer 4

1. tremor
2. chorea
3. athetosis (abnormal muscle contraction causes involuntary writhing movements)
4. dystonia (tone normal if relaxed by abnormal if agitated)

Question 5

what sign might indicate a IX/X problem in a child

Answer 5

weak cry

Question 6

what is myotonia

Answer 6

a neuromuscular condition were there is sustained muscle contractions => relaxation is impaired
often limbs are stuck in a certain position

Question 7

what is congenital myotonic dystrophy

Answer 7

an autosomal dominant trinucleotide repeat expansion neuromuscular disorder with multisystem involvement -> hypotonia and severe muscle weakness, myotonia is absent in childhood

Question 8

5 CNS causes of hypotonia in infancy

Answer 8

1. chromosome disorders (prader-willi);
2. metabolic disorders;
3. SC injuries;
4. cerebral dysgenesis;
5. hypoxic ischemic injuries

Question 9

what is prader-willi syndrome

Answer 9

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

Question 10

motor neuron cause of hypotonia in infancy

Answer 10

spinal muscular atrophies

Question 11

2 NMJ causese of hypotonia in infancy

Answer 11

1. congenital/transietn myasthenia gravis;
2. infantile botulism

Question 12

3 nerve causes of hypotonia in infancy

Answer 12

1. congenital hypomyelinating neuropathy;
2. familial dysautonomia;
3. infantile neuraxonal degeneration

Question 13

what is lissencephaly

Answer 13

“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

Question 14

what is spinal muscular atrophy

Answer 14

a genetic condition that causes muscle weakness and atrophy -> deficit of survival motor neuron 1 (SNM1) and malfunction of SMN2

Question 15

why are contractions seen in children with spinal muscular atrophy

Answer 15

they couldn’t move in utero and so developed contractures

Question 16

spinal muscular atrophy presentation

Answer 16

hip adduction; inability/poor ability to crawl, walk and control head lifting

Question 17

if a child presents w myotonia, what else should be checked

Answer 17

check the parents for myotonia -> it is often genetics

Question 18

what causes hypertonia geerally

Answer 18

UMN lesion

Question 19

what is schizencephaly

Answer 19

a rare birth defect characterized by abnormal slits in the cerebral hemispheres

Question 20

what is kernicterus and what can it lead to

Answer 20

unconjugated bilirubin-induced neurological damage (high levels of bilirubin in the brain) -> may lead to dystonic cerebal palsy

Question 21

MRC power grading scale

Answer 21

0 - no movement
1 - flicker
2 - movement with gravity eliminated
3 - movement against gravity but without resistance
4 - movement against resistance
5 - normal power

Question 22

nerve roots used in arm abduction

Answer 22

C5, C6 (supraspinatous initially then deltoid)

Question 23

nerve roots used in forearm flexing

Answer 23

C5, C6 (biceps)

Question 24

nerve roots used in elbow extention

Answer 24

C6, C7 (triceps)

Question 25

nerve roots used in wrist flexion/extension

Answer 25

C8, T1

Question 26

nerve roots used in hip flexion

Answer 26

L1, L2

Question 27

nerve roots used in knee extension

Answer 27

L3, L4

Question 28

nerve roots used in dorsiflexion

Answer 28

L3, L4

Question 29

nerve roots used in hip extension/knee flexion, plantar flexion/ankle reflex

Answer 29

S1

Question 30

nerve roots used in foot eversion

Answer 30

L5, S1

Question 31

what is gower’s sign

Answer 31

when a child has to “walk” their hands up their knees/thighs to assume a standing position from the floor due to weakness in the pelvic girdle

Question 32

Duchenne muscular dystrophy presentaion

Answer 32

toe walking, difficulty running, climbing up stairs, and frequently falling; calf hypertrophy

Question 33

becker’s muscular dystrophy presentation

Answer 33

Progressive, symmetrical muscle weakness and atrophy with pseudohypertrophic calves (muscle replaced with fat)

Question 34

what happens to the reflexes in demyelination diseases

Answer 34

absent/ diminished

Question 35

what might be seen in the FH of someone with charcot-marie-tooth disease

Answer 35

FH of foot surgery/issues

Question 36

what condition is pes cavus seen in

Answer 36

CMT type 1a

Question 37

when is an upgoing plantar reflex normal

Answer 37

in infants <1yro

Question 38

5 causes for progressive motor deficits in children

Answer 38

1. neoplastic
2. demyelinating
3. metabolic
4. infectious
5. vascular

Question 39

6 causes for static motor deficits in children

Answer 39

1. dysgenesis
2. ischaemia
3. post-infectious
4. post-haemorrhagic
5. post-traumatic
6. metabolic

Question 40

involvement at what sites in the nervous system can lead to respiratory involvement (4)

Answer 40

1. anterior horn
2. peripheral nerve
3. NMJ
4. muscle

Question 41

what happens to tendon reflexes in NMJ diseases (e.g. myasthenia gravis)

Answer 41

nothing, reflexes are normal