neurology

Question 1

What are the types of cerebral palsy

Answer 1

1. Spastic diplegic (both legs); hemiplegic (one leg/one arm); Spastic quadriplegic (total body)
2. dyskinetic (extrapyramidal - choreoathetoid or dystonic)
3. Ataxix
4. hypotonic
5. mixed

Question 2

What is the likely underlying pathology for spastic diplegia?

Answer 2

Periventricular leukomalacia
- IVH; choreoamnionitis

also hereditary spastic paraplegias (X linked, autosomal dominant, and autosomal recessive forms - SPG1)

Question 2

What is the likely underlying pathology for spastic diplegia?

Answer 2

Periventricular leukomalacia
- IVH; choreoamnionitis

Question 3

What is the likely underlying pathology for spastic diplegia?

Answer 3

Periventricular leukomalacia
- IVH; choreoamnionitis

Question 4

what are the muscles most likely to be affected in spastic diplegia?

Answer 4

paraspinal
hip flexors
hip adductors
hamstrings
gastrocnemius
soleus

Question 5

what is the most likely underlying cause of spastic hemiplegia?

Answer 5

1. usually secondary to an infarct involving the MCA

Question 6

what is the most likely underlying cause of spastic hemiplegia?

Answer 6

1. usually secondary to an infarct involving the MCA

Question 7

what is the most likely underlying cause of spastic quadriplegia?

Answer 7

1. bilateral cerebral infarction
2. multicystic encephalomalacia
3. genetic; CPSQ1; CPSQ2.

Question 8

what is the most likely underlying cause of dyskinetic CP?

Answer 8

1. acute, profound hypoxic insult in the third trimester, such as cord prolapse, ruptured uterus, or massive antepartum haemorrhage.
2. Bilirubin encephalopathy/ kernicterus (assoc with sensorineural hearing loss)

Question 9

what investigations should be used in diagnosis of CP?

Answer 9

1. MRI brain: hydrocephalus, hamartoma, tumours. PVL, gross malformations, leukodystrophy
2. TORCH screen inc. HIV
3. Urinary metabolic screen
4. Chromosomes
5. Lumbar puncture
6. skeletal imaging and genetics

Question 10

CP mimics?

Answer 10

glutaric acidaemia type 1 mimics dyskinetic CP
Lesch Nyhan syndrome
lissencephaly
RETT

Question 11

Molecular tests for DMD?

Answer 11

microarray based comparative genomic hybridisation; if that doesn’t work, next gen sequencing based (NGS based) targeted gene analysis in MLPA-negative patients

Question 12

what does 3 on 5 power equate to?

Answer 12

Full range against gravity

Question 13

What does 4 on 5 power equate to?

Answer 13

full range against resistance

Question 14

what does 5 on 5 power equate to?

Answer 14

normal power

Question 15

how do you test for power?

Answer 15

begin by testing against gravity; if attained, test with resistance, if failed, test with gravity removed. (i.e. lying on side, for extension/flexion)

Question 16

what is the usual pattern of weakness in DMD?

Answer 16

initally proximally lower limb and truncal weakness, nec flexor weakness, and later, proximal upper limb weakness, and distal muscle weakness.

Question 17

what kind of neurodiverse findings would you expect with DMD?

Answer 17

ADHD and ASD

Question 18

what is the ddx for neuromuscular issues with proximal weakness?

Answer 18

1. Muscular Dystrophy (DMD/BMD)
2. myopathy (congenital, myotonic dystrophy, post infectious, inflammatory, Metabolic, mitochondrial, secondary - thyroid)
3. anterior horn cell disorders (SMA)

• look for myotonia and fasiculations

Question 19

what is the ddx for neuromuscular issues with distal weakness?

Answer 19

1. neuropathy