CNS - Malformations, Disorders, and Injuries

Question 1

This type of hernia pushes the cingulate gyrus to the opposite hemisphere. It can compress the ACA and maybe cause visual disturbances on the contralateral side

Answer 1

Subfalcine / Falx hernia

Question 2

This type of hernia pushes the uncus downward. It can cause CN3 compression (pupil dilation and paralysis). It can compress the PCA and cause visual cortex ischemia and can also compress the contralateral cerebral peduncle to cause ipsilateral hemiparesis.

If the pons is sheared, it can cause a _____

Answer 2

Transtentorial / Uncal hernia

Duret’s hemorrhage (hemorrhage of upper pons, very bad)

Question 3

This type of hernia displaces the cerebellar tonsils down thru the foramen magnum. It compresses the brain stem and is very fatal

Answer 3

Cerebellar / Tonsilar hernia

compresses the resp and cardiac centers

Question 4

This viral infection can cause hemorrhagic necrosis of temporal lobes. Path shows Cowdry Type A intranuclear inclusions, perinuclear halo, and nuclear molding.

Answer 4

HSV-1

Question 5

If a path report shows intracytoplasmic eosinophilic inclusions found in hippocampal pyramidal cells and purkinje cells (aka: ____), this person died from what?

Answer 5

(Negri bodies)

Rabies

Question 6

For meningitis presentation of CSF levels:
Bacterial infection outlier is the increase in ____ cell type

Viral and fungal have the same presentation except that viral infections have ____

Answer 6

Bacterial: have drastically high neutrophils specifically rather than viral/fungal which have increased general lymphocytes

Viruses have normal glucose levels while fungal infections have low glucose lvls

Question 7

What are the two main causers of meningitis in neonates and what is their morphology?

Answer 7

Group B strep: G+ cocci in chains (most common)

E. coli: G- rods (2nd most common)

Question 8

What are the two main causers of meningitis in infants and children and what is their morphology?

Answer 8

Strep. pneumoniae: G+ diplococci

H. influenza (reduced due to vaccines tho)

Question 9

What is the main causer of meningitis in adolescents and young adults (colleges) and what is their morphology?

Answer 9

Neisseria meningitidis: G- diplococci

Question 10

List the CSF content of the meningitis types:

Bacterial vs. Viral vs. Fungal: _ WBC, _ Protein, _ Glucose

Answer 10

Bacterial: ↑↑ neutorphil count + ↑ protein + ↓ glucose lvl
Viral: ↑ WBC count + ↑ protein + N. glucose lvl
Fungal: ↑ WBC count + ↑ protein + ↓ glucose lvl

Question 11

Neurosyphilis causes what three disease processes?

Answer 11

1. Meningovascular (obliterative endarteritis)
2. Paretic (frontal lobe, dementia, paresis)
3. Tabes Dorsalis: demyelination of DC (loss of proprioception)

Question 12

This pathogen causes cerebral abscesses with ring enhancing lesions. Pregnant women and AIDS pt mostly get this and is associated with cats.

Answer 12

Toxoplasmosis

Question 13

This is most common fungal meningitis in AIDS pt, visualized with india ink stain and shows budding yeast

Answer 13

Cryptococcus

Question 14

A 40 y/o Pt with vision deficits presents complaining of distinct episodes of spastic movements and sensory-motor defects. He has an INO and CNS shows well-circumscribed demyelinated plaques along with periventricular greying. CSF shows IgG antibodies. What disease is this and what gene is it linked to? What type of reaction is causing this and what cells?

Answer 14

Multiple Sclerosis – DR2 HLA haplotype

Autoimmune reaction due to overactive Th1 (IFN-gamma) and Th17 cells

Question 15

What are the two autoimmune demyelinating diseases of the CNS?

Answer 15

MS and Guillan Barre

Question 16

Pt presents with numbness and paralysis in his feet that is working its way up his legs. Past history shows he had a URI a couple weeks ago and Pt has increased CSF protein but normal CSF glucose. Immunofluouresence shows Anti-GM1 and anti-GM2 gangliosides. You put the Pt on a vent until the symptoms pass to prevent death from diaphragm paralysis and the Pt recovers.

What did this Pt have and what kind of disorder is it? What do the anti-GM1 and anti-GM2 gangliosides indicate?

Answer 16

Guillan-Barre syndrome - autoimmune demyelinating ascending paralysis

Anti-GM1 = camplybacter jejuni infection

Anti-GM2 = CMV infection

Remember: G’s go together (Guillan and GM-1 / 2)

Question 17

What are the two post-viral demyelinating CNS diseases and how do you tell the difference?

Answer 17

1. ADEM (acute disseminating encephalomyelitis)
2. ANHE (Acute necrotizing hemorrhage encephalomyelitis)

ADEM is headache, lethargy, and coma 1-2 weeks after a viral infection. Most fully recover

ANHE is acute fulminant form of ADEM. Mostly follows URI in kids and adolescents and most patients die pretty fast

Question 18

What are the two Metabolic demyelinating diseases of the CNS?

Answer 18

Central Pontine Myelinolysis

Subacute Combined Degeneration

Question 19

Dehydrated alcoholic Pt comes in with spastic quadraparesis and mental changes. You put him on normal saline IV and his condition drastically declines and he dies. What disease is this and what caused it?

Answer 19

Central Pontine Myelinolysis

Quickly correcting a hyponatremic state causes demyelination of white matter in basis ponti. Alcoholics are prone to this

Question 20

A vegan with pernicious aneima comes in complaining that he is having leg spasms. You note he lost sense of prop/vib in general. What disease is this and what caused it?

Answer 20

Subacute combined degeneration

Vit. B12 deficiency causes this

Question 21

This disorder has onset in childhood and causes dementia in adulthood. It is caused by an accumulation of sulfatide in oligodendrocytes (giving it a “marbled” appearance). What genetic predisposition is this?

Answer 21

Metachromatic leukodystrophy

Autosomal recessive - arysulfatase deficiency

Question 22

Child with adrenal insufficiency presents with neurologic manifestations (behavior, vision, spasticity, ataxia). Myelin loss occurs and shows lipid-laden histiocytes. EM shows trilamellar membranes with VLCFA-choelsterol esters. What is this disease and what genetic predisposition is this? How is the prognosis?

Answer 22

Adreno-leukodystrophy

X-linked

Poor - child dies w/in a few years of neurologic symptom onset

Question 23

Child has seizures, retardation, vision problem, and dies. Atopsy shows globoid cell proliferation that is sudan positive and has psychsine buildup. What is this and what is the genetic predisposition?

Answer 23

Krabbe’s Disease

Autosomal recessive - beta-galactosidase mutation

Question 24

The following genes are associated with what disease and what are the pathology findings?

• Presenelin 1 and 2
• ApoE
• APP (amyloid precursor protein) gene of Trisomy 21

Answer 24

Alzheimer’s

A-Beta protein in plaques
Tau in neurfibrillary tangles
Stains + for Congo Red
Hirono lesions

Question 25

This disease is distinguished from alzheimer’s by it’s marked frontotemporal atrophy and language involvement. It also has neurfibrillary tangles that stain brilliantly silver on H&E and disappear after death. These are called ____

Answer 25

Pick disease

Pick bodies

Question 26

Child presents with difficulty walking and frequently falls. He has neurological symptoms like nystagmus and an abnormal gait. He has an uncle who had the same gait and had to use a wheelchair. He has balance problems and cerebellar/spinal issues bilaterally. What is this and what is the cause?

Answer 26

Friedrich’s Ataxia

Due to GAA repeats in frataxin gene

Question 27

This condition has UMN problems of UE and LMN problems of LE and weakness in the hands. What is it and what genetic predisposition is it?

Answer 27

Amyotrophic Lateral Sclerosis - superoxide dismutase mutation

Autosomal dominant

Question 28

Vit B1 (thiamine) deficiency can cause what diseases and what is this due to?

Answer 28

• Beriberi (loss of appetite, limb pain, SOB, swollen legs/feet)
• Acute reversible Weirnicke’s that can progress into chronic, irreversible Korsakoff’s

-Alcoholism does this

Question 29

Pt has pill-rolling tremor, mask-like face, and difficulty initiating movement. You notice a lack of dopamine in the pt’s system. What is this and what are the pathogenic features?

Answer 29

• Parkin gene
• alpha-synuclein gene
• Lewy bodies (synuclein protein)

Question 30

Pt has chorea (involuntary movements of hips, shoulders, and face) with memory loss. This seems to affect family members and the age of effect keeps decreasing with each generation. What is this disease, what does it show, and what are the pathologic findings?

Answer 30

• CAG repeats in HTT gene - autosomal dominant
• Shows Anticipation
• Due to loss of inhibitor GABA neurons from the Caudate and Putamen

Question 31

The prion diseases present with subtle memory and behavioral changes that are rapidly followed by progressing dementia and death. What are they? What genetic component is this due to? What differentiates them?

Answer 31

• Mutated PRNP gene causing bad PrP (prion protein) called PrP scrapie
• -This causes an alpha-pleated sheet to be turned into a bad beta-pleated sheet

1. Crutzfelt-Jakob Disease: Sporadic genetic mutaiton; worst form, death within 7 months of onset
2. Gerstmann-Straussler-Scheinker Syndrome: Inherited gene mutation; slower and death is years after onset

Question 32

This rare form of stroke is caused by a mutation in the Notch3 receptor and causes concentric medial and adventital thickening with basophilic granular deposits and smooth muscle dropout

Answer 32

CADASIL (cerebral autosomal dominant arteropathy w/ subcortical infarcts and leukoencephalopathy)

Question 33

This condition consists of an enlarged posterior fossa, absent cerebellar vermis, and large midline cyst with brainstem nuclei dysplasias

Answer 33

Dandy-Walker malformation

Question 34

This condition consists of a small posterior fossa, a malformed midline cerebellum with downward extension of the vermis thru the foramen magnum, hydrocephalus, and a lumbar myelomeningocele. What other condition is associated with this?

Answer 34

Arnold-Chiari malformation (aka: Chiari II malformation).

Syringomyelia

Question 35

This condition is associated with low-lying cerebellar tonsils extending into the vertebral canal. This is most often surgically silent but can obstruct CSF flow

Answer 35

Chiari I malformation

Question 36

This condition is caused by diverse mutations, leading to hypoplasia of cerebellar vermis, elongation of superior cerebellar peduncles, and altered shape of the brainstem. Sometimes it’s called a “Molar tooth sign”

Answer 36

Joubert Syndrome

Question 37

This diagnosis is made from general spasticity, ataxia/athetosis, sometimes paresis, and dystonia (SPAD). It is a broad disorder category that is non-progressive.

Answer 37

Cerebral Palsy

Question 38

A 6 month old presents with generalized muscle weakness that seems to be progressing. Genetic testing shows an autosomal recessive gene mutation in the SMN1 (motor neuron survival gene). What is this disorder and what is the underlying cause of the symptoms?

Answer 38

Spinal Muscular atrophy

Loss of anterior horn and cranial nerve motor neurons b/c loss of SMN1 means that spinal cord cells cannot override apoptosis and just kill themselves for no reason.

Question 39

A previously healthy child presents with “huge calves” and progressive muscle weakness. You notice his muscles seem both fatty and fibrotic. He has to use his hands to “walk” up his body to stand from a squatting positiong (+ Gower’s sign). A few years later he can no longer walk and must use a wheelchair. What is this disease, the genetic component, and prognosis?

Answer 39

Duchenne Muscular Dystrophy

X-linked recessive that causes TOTAL LOSS of dystrophin gene & protein Dystrophin

Carriers are susceptible to cardiomyopathy

Prognosis bad: onset in childhood, wheelchair by age 10, death by age 20

Question 40

A 10 year old patient with mild muscle weakness sometimes comes in for consult. Workup shows mutation in dystrophin gene. What is this disease and what is the prognosis?

Answer 40

Becker’s Muscular Dystrophy

Prognosis: good; it is merely a mutation and less fxnal form of dystrophin protein.

-It is mild form of Duchennes and can still present with heart problems

Question 41

If a Pt presents with parkinsonism combined with cerebellar ataxia and autonomic problems + alpha-synuclein inclusions on workup, what should you suspect?

Answer 41

Multiple System Atrophy (MSA)

Question 42

A Pt comes in with cognitive decline, spasticity, demyelination, and tangles on exam. You find out that he had an untreated measles infection. What is the diagnosis?

Answer 42

SSPE (Subacute sclerosing Panencephalitis)