Neurology

Question 1

What anticonvulsant is associated with an increased risk of suicidal ideation in adolescents?

Answer 1

Levetiracetam

Question 2

What anticonvulsant is associated with kidney stones, metabolic acidosis + language impairment?

Answer 2

Topiramate

Question 3

What is the diagnosis?

• Hypotonic, weak infant
• Myopathic face
• Reduced reflexes
• Mildly elevated CK

Answer 3

Myotonic dystrophy

Question 4

What is the diagnosis?

• Hypotonic, weak infant
• Myopathic face
• Respiratory weakness
• Swallowing difficulties
• Normal CK

Answer 4

Congenital myopathy

Question 5

What is the diagnosis?

• Female
• CK 10 000
• Progressive gait difficulties from 8yrs of age
• Scapular winging
• Positive Gower

Answer 5

Becker Muscular Dystrophy

• Can have this condition in females if Turner’s present OR X lyonisation

Question 6

What is the diagnosis?

• Hypotonic, weak infant
• Bright, alert facies
• Absent reflexes
• Respiratory weakness
• Swallowing difficulties
• Mildly elevated CK

Answer 6

Spinal muscular atrophy

Question 7

What is the diagnosis?

• Progressive difficulty walking
• Foot drop
• Absent reflexes
• Progressive pes cavus
• Normal CK

Answer 7

Peripheral neuropathy- Charcot Marie Tooth

Question 8

What genes are implicated in benign famililial neonatal convulsions + what is the inheritence?

Answer 8

Mutation in voltage gated K+ channels

KCNQ2 (chromosome 20)

KCNQ3 (chromosome 8)

Inheritance: autosomal dominance

NO impact on development

Focal or multifocal clonic or tonic seizures

Usually occurs within 1st week of life

Resolve spontaneously in infancy

Question 9

Which anticonvulsant would you use in a child awaiting a liver transplant for new onset seizures?

• Sodium valproate
• Gabapentin
• Carbamazepine
• Lamotrigine
• Levetiracetam

Answer 9

Levetiracetam: renal excretion, more likely to be effective than gabapentin

Question 10

Cerebral palsy is defined as a disorder of posture and movement due to an insult to the developing brain. What is the most common period for the responsible brain insult to occur?

• Antenatal
• Intrapartum
• Neonatal
• 1-12 months
• After 12 months

Answer 10

Antenatal

Question 11

Do children with cerebral palsy get a neurogenic bladder?

Answer 11

NO, they have other issues with bladder but NOT neurogenic bladder

Think about spinal dysraphism is neurogenic bladder present

Question 12

GMFCS (gross motor functional classification score) in cerebral palsy is based on which clinical features?

• Distribution of impairment (diplegia, hemiplegia)
• Other features of CP (cognitive function, seizures)
• Optimal motor capacity
• Type of motor impairment
• Usual performance across settings (school, home)

Answer 12

Usual performance across settings (school, home)

Question 13

What are the stages of neural development?

Answer 13

• Dorsal induction
  
  • Abnormalities: spina bifida, anencephaly, caudal regression
• Ventral induction
  
  • Abnormalities: absent septum pellucidum, lobar holopronsencephaly
• Neuronal + glial proliferation
  
  • Abnormalities: microcephaly / microlissencephaly
• Neuronal migration
  
  • ​Abnormalities: lissencephaly
• Cortical organisation
  
  • ​Abnormalities: polymicrogyria / focal cortical dysplasia
• Myelination
  
  • ​Abnormalities: hypomyelinating disorders e.g. Pelizaeus Merzbacher Disease
  • Dysmyelination / demyelination: adrenoleukodystrophy

Question 14

CT blood + age density

• Hyperacute <3hrs
• Acute hours - 10 days
• Subacute 2-3 weeks
• Chronic > 3 weeks

Answer 14

• Hyperacute <3hrs ISODENSE
• Acute hours - 10 days HYPERDENSE
• Subacute 2-3 weeks ISODENSE
• Chronic > 3 weeks HYPODENSE

Question 15

What is lissencephaly?

Answer 15

Smooth brain with increased cortical thickness

Primarily caused by impaired migration

LIS1 gene mutation: more severe posteriorly

DCX gene mutation: more severe anteriorly