Neurology

Question 1

12 month old boy presents with recurrent episodes of going limp and having some jerky movements. All of these episodes have occurred after minor injuries. He has had a normal EEG. What is the diagnosis?

1. Infantile spasms
2. Breath holding spells
3. Syncopal episodes
4. Benign myoclonic epilepsy

Answer 1

2. Breath holding spells

Question 2

A 6 year old girl presents with recurrent episodes of staring. She has recently started to have learning problems at school. Her EEG shows generalized 3 Hz spike and wave discharges. What do you tell the family?

1. She has a high likelihood of developing GTC seizures
2. Treatment is not needed because of benign nature of condition
3. Treatment with carbazepine is recommended
4. She will likely outgrow these by adolescence

Answer 2

4. She will likely outgrow these by adolescence

Question 3

A 6 year old boy presents with 3 episodes of facial twitching and drooling at night. Each episode lasted 1-2 minutes. His EEG shows frequent epileptiform discharges in the central-temporal region What is the correct management?

1. Reassure family
2. Start ethosuxamide
3. Urgent MRI brain
4. Urgent Neurology referral

Answer 3

1. Reassure family

Question 4

You see a 7 yo boy with recurrent headaches. Which of the following would be most consistent with a migraine?

1. Occipital location
2. Thunderclap onset
3. Nausea and vomiting
4. New nocturnal enuresis

Answer 4

3. Nausea and vomiting

Question 5

A 4 month old girl presents with hypotonia. She is weak with no anti-gravity movements and absent reflexes. She is alert and makes normal visual contact. What is the most likely diagnosis:

1. Congenital myopathy
2. Merosin negative muscular dystrophy
3. Spinal muscular atrophy
4. Congenital myotonic dystrophy

Answer 5

3. Spinal muscular atrophy

Question 6

You clinically suspect spinal muscular atrophy. What is the most appropriate next text test to order?

1. Muscle biopsy
2. SMN1 gene deletion testing
3. SMN1 gene sequencing
4. SMN2 copy variant testing

Answer 6

2. SMN1 gene deletion testing

Question 7

A 13 yo boy is referred for clumsiness. Neurodevelopment was entirely normal but he cannot ice skate. Exam shows distal weakness, areflexia, heel cord contractures and decreased sharp sensation to the feet. Most likely diagnosis is:

1. Spinal muscular atrophy
2. Charcot-Marie-Tooth disease
3. Duchenne muscular dystrophy
4. Becker muscular dystrophy

Answer 7

2. Charcot-Marie-Tooth disease

Question 8

You see a 6 month old boy with gross motor delay. He can roll to one side, but not sit. He developed “failure to thrive” due to poor oral intake. He is babbling & alert. He has hypotonia, weakness but difficult to elicit reflexes (1+). His serum CK 80 U/L (normal < 175 U/L). What is the most likely diagnosis:

1. Congenital myopathy
2. Congenital muscular dystrophy
3. Spinal muscular atrophy
4. Congenital myotonic dystrophy

Answer 8

1. Congenital myopathy

Question 9

You see a 6 month old boy with gross motor delay. He can roll to one side, but not sit. He developed “failure to thrive” due to poor oral intake. He is babbling & alert. He has hypotonia, weakness but difficult to elicit reflexes (1+). His serum CK 2,500 U/L (normal < 175 U/L). What is the most likely diagnosis:

1. Congenital myopathy
2. Congenital muscular dystrophy
3. Spinal muscular atrophy
4. Congenital myotonic dystrophy

Answer 9

2. Congenital muscular dystrophy

Question 10

A 7 year old boy presents with increasing falls and difficulty getting up from the floor. He has a mild learning disability. He has proximal weakness and prominent calf muscles. His serum CK is 20,000 U/L. What is the most appropriate test:

1. DMD duplication deletion analysis
2. Sequence DMD gene
3. Muscle biopsy
4. Whole exome sequencing

Answer 10

1. DMD duplication deletion analysis

Question 11

You perform a routine exam on a 10 year old boy. He has freckling in his armpits & skin lesions (right). What is the most likely diagnosis?

1. McCune-Albright syndrome
2. Tuberous sclerosis
3. Neurofibromatosis type 1
4. Neurocutaneous melanosis

Answer 11

3. Neurofibromatosis type 1

Question 12

You see a newborn girl with seizures & vesicular lesions in a dermatomal distribution. HSV, VZV testing are negative. What is the most likely diagnosis?

1. Congenital ichthyosis
2. Hypomelanosis of ito
3. Sturge Weber syndrome
4. Incontinenti pigmenti

Answer 12

4. Incontinenti pigmenti

Question 13

What is the inheritance pattern for Sturge-Weber syndrome?

1. Autosomal dominant
2. Autosomal recessive
3. X-lined
4. Sporadic

Answer 13

4. Sporadic

Question 14

A 10 year old boy is seen for 3 week of discreet eye movements to the left. His examination is normal. What of the following is the most appropriate diagnosis:

1. Sydenham chorea
2. Transient tic disorder
3. Chronic tic disorder
4. Tourette syndrome

Answer 14

2. Transient tic disorder

Question 15

A 10 year old boy has a six week history of fidgeting and writhing movements of both arms. He reports joint pain without swelling or warmth. What is the most appropriate diagnosis for his movements?

1. Neuroborreliosis (Lyme) chorea
2. Huntington chorea
3. Sydenham syndrome
4. Somatization syndrome

Answer 15

3. Sydenham syndrome

Question 16

Cerebral palsy is most likely to arise following a hypotensive event at what time?

1. 5-8 weeks GA
2. 16-20 weeks GA
3. 26-30 weeks GA
4. 40-42 weeks GA

Answer 16

3. 26-30 weeks GA