Flashcards in Lecture 9 - The Leukodystrophies, Neuronal Storage D/o, Toxic Brain Injury and Vitamin Deficiencies Deck (11):
deficiency of what?
aka spongy luekodystrophy (WM)
Characteristic Pathlogy -- "spongy" (big macules/vacuoles in white matter)
AR deficiency of aspartoacylase
"the caravan of sponges left asparta"
deficiency of what ?
Sporadic Mutation in GFAP (intermediate filament of astrocytes)
More severe in Frontal Lobes
Histo -- Rosenthal Fibers in astrocytes of white matter. Rosenthal Fibers and Myelin Loss
Presentation -- FTT, white matter disease
"king alexander got shot with a rosenthal arrow in his frontal lobes while FAPing"
Adrenoleukodystrophy (X Linked ALD)
X linked, ATP binding cassette transporter mutation. Leading to demyelination
Posterior hemisphere pathology (caudal to rostral gradient)
Histo --perivascular lymphocytic infiltrates
"Lorenzo lost his Cassette..in the back"
why is is called metachromatic?
AR, Arylsulfatase A deficiency; accumulate sulfatides in macrophages, leading to myelin destruction
Histo- -- a Toludine Blue stain turns brown
Presentation -- very heterogenous; some may not present until adulthood with psychiatric disease. Otherwise peripheral and central demyelination with ataxia and dementia
Krabbe disease --
deficiency of what?
AR deficiency of Galactocerebrosidease leading to destruction of the myeline sheath
Microvascular/eosinophilic, globoid cell leukodystrophy
Hyper-irritable, hypertonic infant. FTT, optic atrophy.
"Intergalactic Planetary" = The Beastie Boys (irritable kid) do the "Krabbe" walk when they forget the lyrics to "galactocerebrosidase Planetary"
PLanetary = Globoid Cells
Neuronal Storage Disorder: Tay sachs
what is a classic finding on exam?
Hexosaminidase A deficinecy --- accumulation of gangliosides in the GRAY MATTER
Classic finding: Cherry red spot on fundoscopy.
Ethanol toxicity -- classically associated with destruction of what structure?
Superior Vermis (of the cerebellum; think drunk people and ataxia)
Carbon Monoxide poisoning -- classically associated with ...
bilateral necrosis of the Globus Pallidus
(CO toxicity happens GLOBALLY)
methanol toxicity -- -classically associated with....
Necrosis of the Putamen and the retinas
(..."EYE, putamen in meth)
Vitamin B1 Deficiency --
name of the vitamin?
commonly in what population?
triad of symptoms
progression of disease?
Alcoholics; part of Beriberi
Wernike's Encephalopathy -- acute psychosis (delirium), opthalmoplegia, ataxia
can lead to...
Korsakoff Syndrome -- Confabulation and memory distrubance
Gross path: Hemorrhagic lesions to the mamillary bodies