Neurology

Question 1

Difference between syncopenand seizures?

Answer 1

Syncope - prolonged upright position before event, lightheaded, sweating, blurring/clouding of vision before event, reduced tone during episode, return of consciousness shortly after episode. No prolonged post-ictal.

Seizure - Epilepsy aura, head turning/abnormal limb positions, tonic clonic activity, tongue biting, cyanosis, lasts > 5 mins and prolonged post-ictal period.

Question 2

Investigations for epilepsy in paeds?

Answer 2

EEG - performed after second simple tonic-clonic seizure. Children allowed one simple seizure before being investigated for epilepsy.
MRI - If first seizure in child < 2 years, focal seizures and no response to first line anti-epileptic meds.
Blood glucose and electrolytes.
ECG

Question 3

Explain features of phenylketonuria

Answer 3

Autosomal recessive condition - excess phenylalanine.
Presentation at around 6 months with developmental delay. Classically child has fair hair and blue eyes, learning difficulties, seizures (infantile spasms), eczema and musty odour to sweat and urine.

Question 4

Investigations and management of Phenylketouira

Answer 4

Ix - Guthrie test (heel prick test done at 5-9 days), hyperphenylalanaemia, phenylpyruvic acid in urine.
Rx - dietrary restriction in pregnancy.

Question 5

what is homocystinuria?

Answer 5

Autosomal recessive disease which results in elevated plasma and urine homocysteine concetrations.

Question 6

Presentation of homocystinuria?

Answer 6

Fine, fair hair.
MSK - Marfanoid body habitus, osteoporosis and kyphosis.
Neurological - learning difficulties and seizures.
Ocular - downwards dislocation of lens and severe myopia.
Increased risk of thromboembolism.
Malar flush
Livedo reticularis.

Question 7

Investigations and treatment of homocystinuria?

Answer 7

Increased homocysteine levels in serum and urine.
Cyanide-nitroprusside test (also positive in cystinuria)
Treat with pyridoxine (VIT B6) supplements.

Question 8

What are the central causes of hypotonia in children?

Answer 8

Down’s syndrome,
Prader-Willi syndrome,
Hypothyroidism,
Cerebral palsy

Question 9

What are the neurological and muscular causes of hypotonia in children?

Answer 9

Spinal muscular atrophy,
Spina bifida,
Guillain barre syndrome,
Myasthenia gravis,
Muscular dystrophy,
Myotonic dystrophy

Question 10

Meningitis organisms in children?

Answer 10

Neonatal to 3 months - Group B strep, E.coli, listeria.

1 month to 6 years: Neisseria meningitidis, strep pneumoniae, haemophilus influenzae.

> 6 years: Neisseria meningitidis, strep pneumoniae

Question 11

Management of meningitis in children?

Answer 11

If < 3 months: IV cefotaxime and amoxicillin.
If > 3 months: IV cefotaxime.
Dexamethasone unless under 3 months old (contraindicated)
Fluids
Cerebral monitoring
Public health notification and prophylaxis of contacts.