Neurology

Question 1

Peripheral neuropathies

Answer 1

• Guillan Barré
• Bells palsy
• Hereditary motor sensory neuropathies

Question 2

Basal ganglia disorders

Answer 2

Rheumatic fever

Mitochondral cytopathies

Wilson disease

Huntington disease

Aquired: CO-poisoning

Question 3

Cerebellar disorders

Answer 3

Posterior fossa tumors (medulloblastoma)

Varicella infection

Genetic degenerative disorders:

• ataxic cerebral palsy
• Friedrich ataxia
• ataxia telangiectasia

Question 4

Definition febrile seizure

Answer 4

A seizure accompanied by high fever (39) in the absence of intracranial infection (due to bacterial meningitis or viral Encephalopathy)

Question 5

Most common age for febrile seizures

Answer 5

6 months - 5 years

Question 6

Most common viral infection associated with febrile seizures

Answer 6

Roseola infantum (HHV6/HHV7)

Question 7

Lower motor neuron signs

Answer 7

Hypotonia

Decreased sensation

Flaccid paralysis

Muscle atrophy

Fasciculations

Decreased reflexes

Question 8

Prognosis of SMA type 1

Answer 8

Very poor, never sits unaided, die from respiratory failure within 12 months

Question 9

Inheritance pattern and gene affected in SMA

Answer 9

Autosomal recessive

Mutations in the survival motor neuron gene (SMN)

Question 10

Definition Guillan-Barré

Answer 10

Acute-onset, progressive, ascending weakness causes by autoimmune-mediated demyelination of peripheral nerves

Question 11

Management of Guillan Barré

Answer 11

IvIG - shortens duration and severity

Question 12

Duchenne muscular dystrophy - inheritance pattern and gene affected

Answer 12

X-linked recessive

Deletion on the short arm of x chromosome

Xp21 - protein: Dystrophin

Question 13

Pathomechanism of Duchenne: mutations in Dystrophin gene

Answer 13

Intracellular signaling pathways dysfunction–> influx of calcium –> increase free radicals –> myofibre necrosis

Question 14

Signs/ Symptoms of Duchenne

Answer 14

Waddling gait

Language delay

Slow run

Gowers sign

Pseudohypertrophy of calves - replacement of muscle fibers by fat and fibrotic tissue

Question 15

Life expectancy Duchenne

Answer 15

Progressive muscle atrophy and weakness - wheelchair by age 10-14

Life expectancy; late 20s - respiratory failure or cardiomyopathy

Question 16

Definition ataxia

Answer 16

Inability to coordinate purposeful movement and control balance

Question 17

Common causes of ataxia in children

Answer 17

1) Infectious labyrinthitis
    Acute cerebellar ataxia
    Drug ingestion
2) metabolic derangements
    Hydrocephalus
    Cerebellar hemorrhage
3) chronic ataxia: Genetic syndromes
Friedrich, telangiectasia

Question 18

Anterior horn disorders

Answer 18

Spinal muscular atrophy

Poliomyelitis