Lysosomal Storage Diseases Flashcards
Krabbe’s Dz
-enzyme
galactocerebroside-B-galactosidase
Krabbe’s Dz
-key diagnostic feature
Globoid Cells
Metachromatic Leukodystrophy
-enzyme
Aryl Sulfatase A
Metachromatic Leukodystrophy
-diagnosis
3 stages:
- late infantile (death)
- Juvenile (death)
- Adult
Adrenoleukodystrophy (Schilder’s Disease)
- enzyme
Perixisomal Disorder (very long chain fatty acyl-CoA synthetase)
Adrenoleukodystrophy
-diagnosis (patient types)
Can occur in kids and adults
- kids = neuro then adrenal insufficiency
- adults = adrenal insufficiency then neuro
Hepatic Encephalopathy
-cause
complication of severe liver dz, chronic portocaval shunting.
-related to hyperammonenia
Hepatic Encephalopathy
-symptoms
Early = inattentiveness, short term memory problems Late = confusion, asterixis (floppy hand), stupor, coma
Hepatic Encephalopathy
-treatment
Liver transplant
Differentiating Hypoglycemia from ischemia in the brain
hypoglycemia will be diffuse, ischemia will be focal lesions
MELAS = mitochondrial encephalopathy, lactic acidosis, stroke-like episodes
-symptoms
- Abnormal mito architecture
- sx’s are like described in the name –> non-vascular strokes, encephalopathy (seizures, dementia), myopathy, ragged red fibers, hearing loss
Leigh’s Disease (Subacute Necrotizing Encephalopathy)
-genetics
mutation in nuclear DNA causes mito problems
-problem converting pyruvate to ATP
Leigh’s Disease (Subacute Necrotizing Encephalopathy)
-pathology
grossly, looks like a lot of strokes, but do not follow a vascular pattern
Wernicke Encephalopathy
- cause
Thiamine (B1) Deficiency
Wernicke Encephalopathy
-lesion
lesions are in mamillary bodies
Korsakoff Psychosis
-symptoms
loss of anterograde episodic memory, preserved intelligence and learn behavior
Korsakoff Psychosis
-cause
result of repeated episodes of Wernicke’s encephalopathy
-no unique pathology to differentiate from Wernicke’s
Vitamin B12 deficiency
-symptoms
- Pernicious anemia
- degeneration of spinal cord
Carbon Monoxide Poisoning
-brain pathology
grayish discoloration of globus pallidus
Drug Toxicity
-Methotrexate
- disseminated necrotizing leukoencephalopathy, around ventricle and deep white matter
- coagulative necrosis w/ axonal loss and mineralization
Drug Toxicity
-Vincristine
- sensory neuropathy (with oral)
- axonal swelling (with intrathecal/spine)
Drug Toxicity
-Phenytoin
- ataxia, nystagmus, slurred speech
- atrophy of cerebellar vermis, loss of Purkinje cells
Drug Toxicity
- Cocaine
- seizures, strokes, hemorrhages
- infarcts and hemorrhages
Drug Toxicity
- Amphetamine
infarcts and hemorrhages, attributed to vasculitis and HTN
