Leukodystrophies - random order Flashcards Preview

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Flashcards in Leukodystrophies - random order Deck (9)
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1
Q

Alexander Disease - Presentation, genetics, cytology?

A

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
Q

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

A

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
Q

Adrenoleukodystrophy - Presentation and pathology?

Waht causes it?

A

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
Q

MEtachromatic Leukodystrophy - disorder of what? presentation and pathology?

What causes it?

A

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
Q

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

A

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
Q

Canavan’s Disease - cytology? Inheritance?

A

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
Q

What happens in Vitamin B12 deficiency?

A

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
Q

Krabbe Disease - Clinical and Pathologic Manifestastions?

What causes it?

A

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
Q

What happens in Thiamine Deficiency?

A

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