Neurology Flashcards
What type of cells make up the choroid plexus?
Simple columnar or cuboidal cells
What cellular features differentiates mycoplasma pneumoniae from other organisms?
Lack of a cell wall
What are the symptoms of syringomyelia?
Limb weakness
Fasciculations
What is syringomyelia?
Cyst/syrinx forms within the spinal cord and widens to compress adjacent nerves
What symptoms occur in Brown-Sequard syndrome?
Ipsilateral weakness, loss of vibration and position sense
Contralateral loss of temperature and pain
What is Charcot-Marie-Tooth syndrome?
Hereditary sensory and motor neuropathy
How is congenital myasthenic syndrome diagnosed?
Repetitive nerve stimulation with a decremental response
On which part of the nephron does acetazolamide act upon?
Proximal tubule
How does congenital myasthenic syndrome present?
Fatigable weakness of skeletal muscle with onset shortly after birth or in early childhood
What typically causes hypertension in patients with NF1?
Renal artery stenosis or pheochromocytoma
What is the typical CSF picture in Guillain-Barre syndrome?
High protein
Normal WCC
If a lesion is affecting both the facial nerve pathway and the corticospinal tract - where is the lesion likely located?
Within the pons
Which gene is associated with ataxic telangiectasia?
ATM gene
What is the embryological structure which is affected by ataxic telangiectasia?
Metencephalon - develops into pons and cerebellum
What are the symptoms of ataxic telangiectasia?
Ataxia
Telangiectasia
Recurrent infections
Predisposition to cancer
What syndrome is associated with SCN1A gene mutations?
Dravet syndrome
What is Dravet syndrome?
Infantile epilepsy syndrome where seizures are often triggered by fever
Usually will have some DD
What would EEG findings show in SSPE?
Burst suppression
What is the first line treatment in juvenile myoclonic epilepsy?
Levetiracetam
What genetic abnormality is associated with Friedreich’s ataxia?
GAA trinucleotide repeat expansions in the noncoding region of the gene coding for the frataxin protein
What is the pattern of inheritance in adrenoleukodystrophy?
X-linked recessive
How does the cerebral form of adrenoleukodystrophy typically present?
Change in behaviour
Alteration in gait e.g. toe walking
Typically starts between 4-8 years
Where does medulloblastoma usually present within the brain?
Posterior fossa
What are the typical presenting features of a posterior fossa tumour?
Headache
Vomiting
Ataxia
All due to blockage of CSF flow at 4th ventricle
