Leukodystrophies - random order Flashcards Preview

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Flashcards in Leukodystrophies - random order Deck (9)
1

Alexander Disease - Presentation, genetics, cytology? 

Leukodystrophy-like disorder with neurodegeneration in the Anterior part of hemisphere (rostal to caudal) 

Mutation in GFAP - sporadic inheritance

Presents with baby w/ failure to thrive but no metabolic defects and see neurodegeneration and accumulation of Rosenthal in astrocytes

Rosenthal Fibers and Myelin Loss

 

Alexander Rosenthal - GFAP=

 Got Fucked-up Anterior Problems 

1

What are the 3 Toxic Brain injuries from and what areas do the toxins most effect in the brain? 

Ethanol = Atrophy of Serperior Vermis and manifests with Truncal Ataxia

 

Methanol = necrosis of Putamin and eye/retina

[Eye-Put-'em-in the methanol] 

 

Carbon Monoxide = Bilateral necrosis of GLobus Pallidus 

[CO poisoning happens all over the GLOBE]

2

Adrenoleukodystrophy - Presentation and pathology? 

 

Waht causes it? 

 Chronic inflammatory demyelinating process that is from X-linked ATP binding cassette transporter

 

White Matter bad in POSTERIOR hemisphere  (moves caudal to rostral) - demyelination and chronic inflammation

see Perivascular Lymphocytic infiltrates (looks inflammatory but is genetic diseasE) 

ADRENAL INSUFFICIENCY!!!! 

 

3

MEtachromatic Leukodystrophy - disorder of what? presentation and pathology? 

 

What causes it? 

Myelin doesn't develop properly bc of Autosomal Recessive inheritence of mutant Arylsulfatase A --> accumulate sulfatides in macrophages 

 

Metachromatic Leykodystrophy see with Toluidine blue staiin 

 

Heterogenous presentation - can present in adulthood with psychiatric disturbances

"ARRR SOFA is Stained Blue "

 

4

NOT a Leukodystrophy: What is Tay Sachs? disorder of what? what do you see? 

Accumulation of Gangliosides in Neuronal Cell bodies - Gray Matter

Hexoaminidase Deficiency 

 

see Cherry Red spot on macular from accentuation of normal macule due to lipid storage all around it 

5

Canavan's Disease - cytology? Inheritance? 

Spongy Leukodystrophy - see big macules/vacuoles in white matter that appear spongy 

 

 

Autosomal Recessive mutation in Aspartoacylase 

CAN A VAN take you to SPARTA? 

ARRRRRRRRRRR not but a Sponge can!

6

What happens in Vitamin B12 deficiency?

 See Subacute combined degeneration of Dorsal and Lateral columns of SC 

 

Dorsal --> sensory disturbances and position sense

Lateral --> weakness and spasticity 

 

Also see pernicious anemia! 

8

Krabbe Disease - Clinical and Pathologic Manifestastions? 

 

What causes it?

WM Lesions that leads to prblems with spasticity, ataxia and motor issues 

[think Krabbe sounds like Crab and crabs walk funny....]

Presents in infancy and is lethal 

Globoid Cell Leukodystrophy 

 

Autosomal Recessive Galactocerebroside beta-galactosidase 

9

What happens in Thiamine Deficiency? 

Seen in Beri Beri and Chronic Alcoholics

 

Wernicke Encephalopathy - acute psychosis, opthalmoplegia and ataxia from Acute Hermorrhagein Mamillary Bodies and can lead to ....

 

Korsakoff Syndrome where you have chronic confabulation and memory disturbance