Neurology

Question 1

Leigh Syndrome

Answer 1

Starts in infancy

Seizures, weakness, hypotonia, Ataxia
Sighing
Basal Ganglia Involved
Increased Lactate

Question 2

SL Epilepsy with Centro-Temporal Spikes

Answer 2

Awake from sleep
Aware, movements one side of face
Can progress to non-aware GTCS

Question 3

Benign Occipital Epilepsy: Panayiotopoulos

Answer 3

Focal, impaired awarness, vomiting, no treatment

Question 4

Benign Occipital Epilepsy: Gaustat

Answer 4

Focal, impaired awareness, aura and migraine, no treatment

Question 5

Ataxia Telangiectasia

Answer 5

Mutation ATM gene on Chr11

Starts at 2yo with ataxia. Oculomotor apraxia is common. Telangiectasia by childhood. Loss of ambulation by adolescence.

High AFP and Low IgA. Mild cerebellar atrophy.

50-100 fold increased risk of lymphoreticular tumours and brain tumours

Question 6

KCNQ2

Answer 6

Benign Familial Neonatal Convulsions

AND

Severe Encephalopathy

(KCNQ1 is neonatal diabetes, both potassium channel problems)

Question 7

SCN1A

Answer 7

GEFS +

AND

Dravet

Question 8

CSF Findings in Guillian Barre?

Answer 8

HIGH Protein

NORMAL WCC

Question 9

CSF Findings in Bacterial Meningitis?

Answer 9

HIGH Neutrophils (aka PMN)
HIGH Protein
LOW Glucose