Neurology Flashcards
Ataxia telangiectasia (inheritance)
Inheritance pattern
Autosomal recessive
Friedrich’s ataxia (inheritance)
Autosomal recessive
Lateral medullary syndrome
Wallenberg’s syndrome
Occlusion of posterior inferior cerebellar artery (PICA)
-> ataxia, nystagmus, ipsilateral Horner’s/pain and temp sensation loss, contralateral limb sensory loss
Right pupil larger than left, no reaction to light directly or consensually
Reduced/absent deep tendon reflexes
Adie’s pupil
Afferent pupillary defect
Findings
Due to impaired ipsilateral optic nerve function
Brief paradoxical pupillary dilatation on swinging light test
Bilaterally small pupils
Accommodate but do not react to light
Argyll Robertson pupils
Ptosis
Ipsilateral small pupil
Syndrome?
Horner’s syndrome
Ipsilateral ptosis
Pupil enlargement
Third nerve palsy
Miller Fisher Syndrome
Features
Antibodies
Variant GBS
Triad: ataxia, external ophthalmoplegia, areflexia
GQ1B antibodies
Gerstmann’s syndrome
Dominant parietal lobe infarct
Features
Finger agnosia
Acalculia
Agraphia
Left-right limb disorientation
Contralateral hemiparesis and sensory loss; worse in lower limbs
vessel?
Anterior cerebral artery
Contralateral hemiparesis; upper limbs affected more than lower
Contralateral homonymous hemianopia
Aphasia
Middle cerebral artery
Contralateral homonymous hemianopia with macular sparing
vessel?
Posterior cerebral artery
Weber’s syndrome (branches of posterior cerebral artery that supply midbrain)
Signs
Ipsilateral CN III palsy
Contralateral weakness of upper and lower extremity
Lateral pontine syndrome (anterior inferior cerebellar artery)
Ipsilateral: facial paralysis and deafness
Contralateral: limb/torso pain and temperature loss
Ataxia, nystagmus
Retinal/ophthalmic artery
Presentation
Amaurosis fugax
Mild-mod learning disability
Narrow face, large ears, flexible fingers, large testicles
Condition?
Gene
Inheritance
Fragile X syndrome
FMR-1 gene
X linked dominant
Torticollis muscle
Ipsilateral sternocleidomastoid