Flashcards in UWorld Deck (17):
What is the frequency of a pill rolling tremor?
What patients have a festinating gait?
What are Lisch nodules? What disease are they seen in?
Tan, raised hamartomas of the iris; seen in NF1
What inherited neurocutaneous disorder are renal angiomyolipomas associated with?
Deficiency of galactose-1-phosphate uridyl transferase causes what symptoms?
Infant with FTT, bilateral cataracts, jaundice, hypoglycemia; can see hepatomegaly and convulsions
How does galactokinase deficiency present?
What dementia subtype presents with visual hallucinations and spontaneous parkinsonism?
Dementia with Lewy bodies
Patient presents with sudden loss of vision in right eye and h/o diabetes. Ophthalmoscopy reveals loss of fundus details, floating debris and dark red glow. What is the most likely diagnosis?
Vitreous hemorrhage - sudden vision loss and onset of floaters; fundus hard to visualize is key
What a frequently associated side effects of amitriptyline?
Orthostatic hypotension, lethargy (antihistamine effect), and anticholinergic effect (dry mouth, constipation, urinary retention)
How does Tick paralysis present?
Paresthesias and fatigue followed by ascending muscle paralysis.
How is Niemann-Pick disease differeant than Tay-Sachs disease?
NPD with HSM and areflexia; Tay-Sachs with hyperreflexia; NPD due to sphingomyelinase def.
What are the clinical features of Niemann-Pick Disease?
Loss of milestones, hepatosplenomegaly, cherry red spot macula, areflexia, feeding difficulties, hypotonia
What are the clinical features of Tay-Sachs disease?
Loss of milestones, feeding difficulties, hypotonia, cherry red macula, hyperreflexia
What enzyme is def. in Niemann-Pick disease?
What are the firstline treatments for cognitive symptoms of Alzheimer’s dementia?
Cholinesterase inhibitors: donepezil, galantamine, rivastigmine
What is amantadine? What is it used in?
Dopamine agonist; can be used in Parkinson’s