Lecture 9 - The Leukodystrophies, Neuronal Storage D/o, Toxic Brain Injury and Vitamin Deficiencies Flashcards Preview

PT2 B1 > Lecture 9 - The Leukodystrophies, Neuronal Storage D/o, Toxic Brain Injury and Vitamin Deficiencies > Flashcards

Flashcards in Lecture 9 - The Leukodystrophies, Neuronal Storage D/o, Toxic Brain Injury and Vitamin Deficiencies Deck (11):
1

Canavan's Disease

aka?
deficiency of what?
characteristic pathology?

aka spongy luekodystrophy (WM)

Characteristic Pathlogy -- "spongy" (big macules/vacuoles in white matter)

AR deficiency of aspartoacylase

"the caravan of sponges left asparta"

2

Alexander Disease:

deficiency of what ?
localization?
Histopathology?
Presentation?

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"

3

Adrenoleukodystrophy (X Linked ALD)

deficiency in?
Localization?
Histology?

Clinical manifestation

X linked, ATP binding cassette transporter mutation. Leading to demyelination

Posterior hemisphere pathology (caudal to rostral gradient)

Histo --perivascular lymphocytic infiltrates

Adrenal insufficiency

"Lorenzo lost his Cassette..in the back"

4

Metachromiac Leukodystrophy

deficiency of?
why is is called metachromatic?
Presentation?

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




5

Krabbe disease --

deficiency of what?

Characteristic pathology?

Presentation?

AR deficiency of Galactocerebrosidease leading to destruction of the myeline sheath


Microvascular/eosinophilic, globoid cell leukodystrophy

Hyper-irritable, hypertonic infant. FTT, optic atrophy.

Fatal


"Intergalactic Planetary" = The Beastie Boys (irritable kid) do the "Krabbe" walk when they forget the lyrics to "galactocerebrosidase Planetary"
PLanetary = Globoid Cells

6

Neuronal Storage Disorder: Tay sachs

Deficiency of?

what is a classic finding on exam?

Hexosaminidase A deficinecy --- accumulation of gangliosides in the GRAY MATTER


Classic finding: Cherry red spot on fundoscopy.

7

Ethanol toxicity -- classically associated with destruction of what structure?

Superior Vermis (of the cerebellum; think drunk people and ataxia)

8

Carbon Monoxide poisoning -- classically associated with ...

bilateral necrosis of the Globus Pallidus

(CO toxicity happens GLOBALLY)

9

methanol toxicity -- -classically associated with....

Necrosis of the Putamen and the retinas

(..."EYE, putamen in meth)

10

Vitamin B1 Deficiency --

name of the vitamin?
commonly in what population?
triad of symptoms
progression of disease?

Gross pathology?

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

11

Vitamine B12 Deficiency --
aka?

what vitamin?
degeneration of what?

Symptoms:

(perncious anemia)
Cobalamin

Subacute/combined Degernation -- Degeneration of dorsal and lateral columns of the spinal cord

Symptoms:
Dorsal Columns: sensory --impaired position and vibration sense, paresthesias

lateral: , weakness and spasticity