demyelinating/dysmyelinating disease

Question 1

What increases a patient’s risk of progressive multifocal leukoencephalopathy?

Answer 1

natalizumab
remember that this is demylination of CNS d/t destruction of oligos in AIDS pts. It is a reactivation of JC virus infection.

Question 2

What is acute disseminated encephalomyelitis?

Answer 2

multifocal perivenular inflammation and demylination. associated with measles or VZV or rabies/smallpox vaccinations

Question 3

What is metachromatic leukodystrophy?

Answer 3

autosomal recessive lysosomal storage disease, usually d/t arylsulfatase A deficiency. this causes a buildup of sulfatides, leading to impaired production of the myelin sheath. causes central and peripheral demyelination with ataxia and dementia

Question 4

What is Charcot-Marie-Tooth disease?

Answer 4

aka hereditary motor and sensory neuropathy
progressive hereditary disease associated with defective production of peripheral nerves or myelin sheath. usually autosomal dominant and associated with scoliosis and foot deformities

Question 5

What is Krabbe disease?

Answer 5

autosomal recessive lysosomal storage disease that is caused by a galactocerebrosidase defiency. This causes a build-up of galactocerebroside and psychosine, which destroys the myelin sheath. causes peripheral neuropathym developmental delay, optic atrophy and globoid cells

Question 6

What is adenoleukodystrophy?

Answer 6

X-linked genetic disorder that affects mostly males. distrubts the metab of very long chain fatty acids causing excessive build-up in the nervous system, adrenals, and testes. progressive disease that leads to coma/death and adrenal gland crisis

Question 7

Most common site of partial seizures; characteristics

Answer 7

affect 1 area of the brain, though they can spread and secondarily generalize.
most common site: medial temporal lobe with preceding aura

Question 8

What are the types of partial seizures?

Answer 8

simple partial vs. complex. simple: patient remains conscious by has a motor, sensory, autonomic, or psychic disorder
complex partial causes impaired consciousness

Question 9

Absence seizures

Answer 9

3 Hz seizures w/o post-ictal confusion. blank stares. generalized

Question 10

Atonic seizures

Answer 10

drop seizures

Question 11

What is status epilepticus?

Answer 11

medical emergency wherein a pt has continuous seizures for >30 min or recurrent seizures w/o regaining consciousness.