Leukodystrophies - random order Flashcards
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 *
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]
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!!!! **
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 “
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
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!
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!
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 **
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
