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Neuro Flashcards

1
Q

9 year old girl presents w/

  • weak ankle dorsiflexion, pes cavus, and stork-like appearance of the legs
  • she has a history of clumisness
  • sensory exam shows decreased sensation to light touch over both feet and impaired proprioception

Dx?
Inheritance?
What nerve is responsible for pts motor exam findings?

A

Charcot marie Tooth Dz = type 1

  • AD -> demyelination
  • MC affects nerves of LE

Nerve affected: Deep fibular nerve (supplies anterior compartment of leg; superficial: supplies lateral compartment of the leg)

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2
Q

What layer of the eye shows white opacifications in cataracts?

A

Lens

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3
Q

Anterograde vs retrograde transport of axons

  • which uses dynein vs kinesin
  • which one is used during latency vs reactivation?
A

Anterograde -> kinesin
-used during latency

Retrograde -> dyenin
-used during reactivation

**herpesvirus, poliovirus, rabies virus, tetanus use this

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4
Q

CN used in corneal reflex

A

Afferent: CN V
Efferent: CN VII

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5
Q

8 year old boy presents w/

  • behavioral changes, mild intellectual deterioration, and laziness
  • develops progressive clumsiness and frequent involuntary jerky movements
  • CSF shows increased IgG
  • he dies 2 years later

Dx?
Infection d/t?

A

Subacute sclerosing panencephalitis (SSPE)

Infection: measles
-nml infected by age 2 but takes about 6 years for symptoms to develop

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6
Q

What nerve innervates the muscles of the tongue (except pataloglossus)?

What happens to the tongue when this nerve is cut?

A

CN XII

-protrusion of the tongue causes it to point to the weak side (“Like your wounds”

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7
Q

What carriers tactile, proprioception, and vibratory information to

  • ipsilateral UE
  • ipsilateral LE
A

UE: cuneatus (lateral portion of dorsal columns)

LE: gracilius (medial portion of dorsal columns)

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8
Q

What carries

  • UMN
  • LMN
A

UMN: corticospinal tract

LMN: lateral corticospinal tract

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9
Q

What information is carried in

  • dorsal horn
  • ventral horn
  • lateral horn
A

Dorsal: sensory

Ventral: motor (LMN)

Lateral: preganglionic sympathetic (horners syndrome)

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10
Q

Slow growing B9 tumor that is MC in elderly women

  • originate from dura mater or arachnoid
  • demonstrates hyperostosis: osteoblastic rxn to overlying cranial bone
  • nml affects corticospinal fibers -> leg weakness

Dx
Histology
Tx

A

Intracranial meningioma

Histology: whorls of cells (Psammoma bodies)

Tx: surgical resection

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11
Q

Aggressive malignant astrocytoma (grade IV)

  • MC in middle-aged/elderly
  • histology: pleomorphic, hyperchromatic, anaplastic cells w areas of necrosis w/ pseudopalisading tumor cells surrounding them

Dx?
What would be seen on MRI

A

Glioblastoma multiforme
-MRI: ring-enhancing lesions/necrosis

Children: brainstem
Adults: cerebral cortex (corpus callosum -> butterfly glioma)

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12
Q

Glial tumor that causes leg weakness

  • see round, central nuclei w/ clear surrounding cytoplasm
  • MC in cerebral hemispheres

Dx?
MC age?

A

Dx: oligodendrogliomas

  • describing the “fried egg” appearance
  • MC in middle aged pts

**meningioma also causes leg weakness but shows psammoma bodies

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13
Q

Which part of the brain is in charge of memory formation?

A

Hippocampus

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14
Q

Brainstem lesion to

  • midbrain
  • upper pons
  • lower pons
  • medulla

Will affect which cranial nerves?

A

Midbrain: CN 3 and 4
Upper pons: CN 5
Lower pons: CN 6, 7, 8
Medulla: CN 9-12

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15
Q

Lesion to what nerve causes the tongue to deviate to the right upon protrusion?

A

CN XII on the right = “lick its wounds”

**opposite for uvula: CN X on the left will cause it to deviate to the right

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16
Q

Pt has nml perception but perception is devoid of meaning

A

Agnosia

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17
Q

The inability to recognize faces

  • define
  • MC d/t
A

Prosopagnosia

-infarcts of PCA

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18
Q

Impairment of reading

  • define
  • nml d/t
A

Alexia

Infarct of occipital cortex by occlusion of PCA

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19
Q

Impairement of writing

A

Agraphia

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20
Q

Lack of knowledge about ones own body

-denies that half of their body belongs to them

A

Asomatognosia

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21
Q

Pt has alexia, agraphia, acalculia (cannot perform math), finger agnosia, and right-left disorientation

  • dx
  • d/t
A

Gerstmann syndrome

-d/t lesion of angular gyrus

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22
Q

Inability to carry out an action after receiving a verbal command
-can imitate hand gestures but can’t do it when they are asked

A

Ideomotor apraxia

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23
Q

Cannot comprehend spoken language and their speech is fleunt but lacks meaning

  • dx
  • d/t
  • what would you expect to see during an eye exam
A

Wernickes aphasia (aka receptive aphasia)

-d/t lesion of wernickes area in dominant temporal lobe

  • eye exam: right upper visual field cut (right upper quadrantoanopia)
  • werknickes area often contains a portion of meyer’s loop
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24
Q
  • “What pathway” = processes colors, face,s letters, and other visual stimuli
  • “where pathway” = analyzes spatial relationships between objects, the body and visual stimuli, and motion

What cortex is involved for each?

A

What -> temporo-occipital

Where -> parieto-occipital

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25
Q

Lesion to this area in the occipital lobe will lead to cortical blindess w/ a visual field defect

A

Calcarine sulcus -> primary visual cortex

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26
Q

A lesion in this nucleus will result in a contralateral hemianopsia

A

Lateral geniculate nucleus

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27
Q

Pt presents w/

  • slow movements, tremor that goes away when performing a task
  • dementia, psychosis, restless leg syndrome, insomnia, fatigue

Dx
Cause
Tx

A

Parkinson dz
-degeneration of dopaminergic nigrostriatal tract -> decreased dopamine and increased ACh

Tx: carbidopa/levodopa -> for bradykinesia and cogwheel rigidity

  • if they also have depression: TCA
  • if they also have seizures: benztropine
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28
Q

2 month old Pt presents w/
-holoprosencephaly, micropthalmia, microcephaly, clef lip/palate, polydactylyl, congenital heart disease, and severe intellectual disability

Dx
D/t
Prognosis

A

Patau syndrome
-trisomy 13

Prognosis: usually die before 1 year of age

M1CRoCePHaly

  • mental retardation
  • 13 chromosome
  • cardiac defect
  • renal defects
  • cleft lip
  • polydactylyl
  • holoprosencephaly
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29
Q

Where does CN III exit the cranial fossa?

-what other CN exit there?

A

-Superior orbital fissure: CN III, CN IV, V (opthalamic), VI

Can Obama Spray Super Soakers Right On Senators? Is It Juvenile? Just Joking, However?

  • Cribriform plate: CN 1
  • Optic canal: CN II
  • Superior orbital fissure: CN III, CN IV, CN V (opthalamic), CN VI
  • foramen Rotundum: CN V (maxillary)
  • foramen Ovale: CN V (mandibular)
  • Internal auditory meatus: CN VII, CN VIII
  • Jugular foramen: CN IX, X, XI
  • Hypoglossal canal: CN XII
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30
Q

55 y/o Pt w/intellectual disability dies from congenital heart disease. PE shows flat nasal bridge, macroglossia, holosystolic murmur at apex.
-brain biopsy shows senile plaques and neurofibrillary tangles in cerebral cortex and hippocampus

Changes are most likely caused by presence of on extra copy of what gene encoding what ptn?

A

Chromosome 21 encoding amyloid precursor ptn

**down syndrome pts that live past 40 have and increased risk of developing alzheimers

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31
Q

Pt presents w/

  • b/l decreased pain and temp across shoulders, arms, and upper torso
  • atrophy of hand muscles and decreased reflexes
  • light touch, vibration and position fo preserved

Dx?
D/t

A

Syringomyelia
-d/t: arnold chiaria malformation, tumor, trauma, or vascular malformations

  • b/l decreased pain = interruption of anterior white commissure
  • inhibit ventral horn = LMN
  • inhibit CST -> UMN
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32
Q

Pt presents w/

  • loss of position and vibration in LE
  • wide based gait, ms atrophy, and decreased reflexes

Can be d/t deficiency of _______ in diet
D/t

A

Vitamin B12 deficiency -> demyelination of white matter of upper thoracic spinal cord

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33
Q

Female presents w/

  • cognitive changes
  • paresthesia, poor coordination
  • hyperreflexia, spasticity,
  • diplopia, optic neuritis
  • autonomic dysfunction
  • labs show increased antibodies to schwann cells
  • dx
  • what would you see on brain MRI
A

MS

MRI: hyperintense demyelinating plaques in white matter

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34
Q

Innervation to

  • submandibular
  • lacrimal
  • sublingual
  • parotid
A

CN VII: submandibular, lacrimal, sublingual

CN IX: parotid

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35
Q

Pt w/ MS gets an MRI and it shows

  • dense lymphohistiocytic infiltration
  • hyperplasia and atrophy of astrocytes

Which one describes and acute plaque and which one a chronic?

A

Acute = lymphohistiocytic

Chronic: hyperplasia of astrocytes (Gliosis)

**never leads to complete loss of axons

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36
Q

Difference between lewy body dz and alzheimer

A

Both: show dementia

Lewy body also has involvement of

  • substantia nigra -> extrapyramidal symptoms (ex. Parkinsonian motor features)
  • visual hallucinations
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37
Q

Defect in what nerve leads to

  • loss of sensation to upper pharynx, eustachian tube, middle ear, posterior 1/3 of tongue
  • carotid sinus baro/chemoreceptors
  • taste of posterior 1/3 of tongue
  • parotid gland innervation
A

CN IX

38
Q

Pt w/ history of uncontrolled HTN presents w/ right-sided hemiplegia

  • no loss of sensation
  • can wrinkle forehead on both sides

Most likely cause?
Prognosis

A

Charcot Bouchard aneurysm in lenticulostriate arteries that supply the left internal capsule and basal ganglia
-UMN lesion -> lower facial paralysis

Intracerebral hemorrhage -> uncal herniation -> tonsillar herniation -> death

39
Q

What is a common complication of general anesthesia that leads to acute changes in mental status w waxing and wanning levels of consciousness, agitation, irritability, and psychosis?

Tx
What drugs should be avoided?

A

Delirium
-tx: neuroleptics

**avoid benzodiazepines -> worsen condition

40
Q

Schizophreniform vs schizophrenia

A

Phreniform: symptoms 1-6 months

Phrenia: symptoms >6 months

41
Q

35 year old male is brought in by his wife because of

  • progressive memory loss, mood changes and errors in judgement
  • PE shows hypertonicity of all extremities, ataxic gait, and myoclonic jerks
  • no history of seizures, head trauma or incontinence
  • CT and MRI show no abnormalities

Dx
Infectious agents
EEG findings
Lumbar puncture findings

A

Dx: creutzfeldt-Jakob disease

Infectious agent: prions -> converted to abnml beta-pleated sheets -> accumulate in extracellular space of neurons
-d/t corneal transplants, dural transplants, beef ingestion

EEG: triphasic spikes
Lumbar puncture: 14-3-3 ptn
MRI/ST may show spongiform changes (“Swiss cheese appearance)
-none of this are always present

42
Q

52 year old man walks into the ER

  • smells of wine and looks malnourished
  • PE shows orientation only to self and troubles walking
  • ocular exam shows horizontal nystagmus on lateral gaze, lateral rectus palsy

Dx
Deficiency of what vitamin caused this
Who else is at risk for this
What area of the brain is affected

A

Dx: wernicke encephalopathy
-triad: encephalopathy, oculomotor dysfunction, gait ataxia

Deficiency of thiamine (vit B1) = must be administered prior to glucose

Can also occur in: anorexic, hyperemesis of pregnancy, malignancy, AIDS

Damages mamillary bodies
**associated w/ confabulation: unconsciously makes up explanations for events that did not occur (is in the setting of memory loss: does not know that he is lying)

43
Q

7 year old boy is brought in because of his poor performance at school, however he does not have any behavioral problems

  • teacher things he has trouble paying attention
  • testing shows nml IQ but finds him staring into space and requiring questions to be repeated

Dx
Tx

A

Absence (petit mal) seizures
-timing: 5-7 years old

Tx: ethosuximide and valproic acid

44
Q

Occlusion of each of these vessels would lead to ?

  • left posterior cerebral artery (PCA)
  • anterior communicating artery (ACA)
  • internal carotid artery
  • opthalamic artery
  • posterior communicating artery
A
  • PCA: right homonymous hemianopsia
  • ACA: bitemporal hemianopsia (located in optic chiasm)
  • ICA: binasal hemianopsia
  • opthalamic artery: anopia (perfuses the optic nerve)
  • post communicating artery: CN II palsy (overlies this nerve)
45
Q

Damage to

  • corticospinal tract
  • ventral horn of spinal cord
  • caudate nucleus
  • cerebellum
  • globus pallidus
  • substantia nigra

Leads to what neurodegenerative diseases?

A
  • corticospinal tract and ventral horn = ALS
  • caudate nucleus = Huntington disease
  • cerebellum = Friederich ataxia
  • globus pallidus (w/in basal ganglai) and substantia nigra = parkinson dz
46
Q

Lesion to this nerve causes diplopia on horizontal gaze

A

CN III -> cannot adduct the affected

4 basic functions

  • constricts pupil
  • accommodates
  • innervates EOM
  • raises eyelid (levator palpebrae)
47
Q

What nerves arise from the cerebellopontine angle

  • what structures form the cerebellopontine angle
  • MC tumor in this area
A

Cerebellopontine angle = triangular area fromed by cerebellum, upper medulla, and middle cerebellar peduncle

CN VII and CN VIII exit here
-MC affected by acoustic schwannomas

48
Q

What type of hypersensitivity rxn is multiple sclerosis

A

Type 4: initiated by CD4 Th1 lymphocytes against self myelin Ag -> secrete INF-gamma to active macrophages -> demyelination

**s/s: relapsing and remitting neurologic symptoms

49
Q

Pt reports double vision that is worse when looking to either right or left

  • however when she closes one eye, her vision returns to nml
  • MRI shows demyelinating lesions of the brain stem
  • she does report that she randomly has tingling in her arm, but it always goes away

Dx
cause

A

INternuclear ophthalmoplegia in MS pt

  • caused by damage to medial longitudinal fascicules (MLF): links the CN VI with CN III during lateral gaze
    • when looking right: Right eye can abduct but left eye cannot adduct with it
  • *if both eyes could not look right = lesion to right abducens nucleus (before it innervates CN III)
  • abducens nucleus -> CN VI and MLF -> CN III nucleus -> CN III
50
Q

Seizure assoc w/ sudden loss of postural ms tone that last only a few seconds

  • consciousness may be briefly impaired
  • nml starts occurring in childhood

Dx
Difference from grand-mal seizure

A

Atonic seizure

Doesn’t have post-ictal confusion like grand-mal seizures (aka tonic-clonic seizures)

51
Q

Seizure assoc w/ blank stares, short loss of consciousness

  • no post-ictal confusion
  • no loss of muscular tone
  • typically occur in childhood
  • may be precipitated by hyperventilation
A

Absence seizures

52
Q

Seizures assoc w/ sudden, brief ms jerks that may involve part or the whole body

Vs

Seizures associated w/ sudden onset of sustained axial and limb ms contraction

A

First: myoclonic

Second: tonic

53
Q

Pt comes in w/ HA and difficulty looking up

  • ocular exam shows that the pupils accommodate but do not react to light
  • MRI shows a brain tumor

Dx
What structure is it compressing

A

Dx: Parinaud syndrome -> pineal tumor

Compressing superior colliculi = contains vertical gaze center

54
Q
  • pt only shaves right side of face
  • has trouble getting dressed in the morning
  • tingling in left hand

Dx
What structure is damaged

A

Hemineglect syndrome

Damage to right parietal or frontal cortex

55
Q

What exits above the piriformis ms in the greater sciatic foramen ?
-damage to this will lead to what physical finding

A

Above piriformis
-superior gluteal n, a, v = innervates glute medius and minimus -> lose hip abduction

Below piriformis

  • inferior gluteal nerve = glute max -> hip extension and lateral rotation
  • pudendal nerve = sensory/motor to perineum
  • sciatic nerve: post compartment of thigh, leg, plantar foot
56
Q

5 year old presents w/

  • n/v, increased intracranial pressure
  • MRI shows lesion in the cerebellum
  • biopsy displays rosenthal fibers (eosinophilic intracellular inclusions w/ a twisted appearance

Dx

A

Pilocytic astrocytomas

57
Q

7 y/o presents with a tumor located in the fourth ventricle
-papillary masses w/ perivascular rossettes

Dx

A

Ependymomas
-can arise in the spinal cord

**pathognomionic of tuberous sclerosis

58
Q

Pt presents with vision problems, ocular exam demonstrates the following:

  • 1) loss of central visual fields w/ peripheral fields intact
  • 2) progressive loss of peripheral fields w/ central field intact
  • 3) pt complaining of multiple new “floaters”
  • 4) pt complains of sudden, ul painless visual loss

Dx for each

A

1) macular degeneration
2) open angle glaucoma
3) retinal detachment
4) central retinal artery occlusion

59
Q

Pt presents w/

  • 1) fluent speech but cannot comprehend or repeat
  • 2) cannot fluently speak or repeat words, but can comprehend words
  • 3) can fluently speak and understand words but cannot repeat words

-dx and location of lesion

A

1) Wernicke -> superior temporal gyrus
2) Broca -> inferior frontal gyrus
3) conduction aphasias -> arcuate fasciculus

60
Q
  • subependymal nodules and giant cell astrocytomas
  • multiple hamartomas: skin, CNS, visceral organs
  • cardiac rhabdomyomas
  • renal angiomyolipomas
  • skin: shagreen patches and ash-leaf (hypopigmented) spots

Dx
Mutation in what gene
What s/s would you expect

A

Tuberous sclerosis

  • AD mutation in TSCI or TSC2
  • s/s: seizures and intellectual disability
61
Q
  • Renal cell carcinomas
  • pheochromocytomas
  • hemangioblastoma of the cerebellum, spinal cord, and retina

Dx
Mutation in what gene

A

Von Hippel lindau

AD mutation in VHL gene on chromosome 3

62
Q

Smell pathway:

-olfactory nerve —(cribiform plate)—>olfactory bulb -> _______

A

Piriform cortex/ primary olfactory cortex/ uncus

**seizures that originate here present with auras consisting of disagreeable odors

63
Q

Where are these sensations processed in the brain?

  • taste
  • smell
  • motor
  • sensory
A

Taste: insula

Smell: piriform cortex

Motor: precentral cortex

Sensory: postcentral cortex

64
Q

Pt w/ severe optic neuritis in her right eye has a history of leg and arm weakness/tingling that has comes and goes.

  • what would you expect to happen if you shined a light into her right eye?
  • what would you expect to happen if you shined a light into her left eye?
A

This pt has MS, which commonly presents with optic neuritis
-recall that MS is due to autoimmune destruction oligodendrocytes -> CN II is the only CN myelinated by oligodendrocytes and thus would be the only one affected by MS

Pupillary light reflex: afferent (CN II) and efferent (CN III)
-CN II is involved in constriction of ipsilateral (direct light reflex) and contralateral eye (consensual light reflex)

Thus if you shined a light into her R eye: neither her R or L eye would constrict

If you shined a light into her L eye: both her R and L eye would constrict like nml

65
Q

Chiari I vs Chiari II

  • age of diagnosis
  • severity of dz
  • assoc w/ Meningomyelocele, hydrocephalus, and syringomyelia
A

Chiari I

  • diagnosed in adults/adolescence -> less severe
  • no meningomyelocele or hydrocephalus
  • syringomyelia less common

Chiari II

  • diagnosed in infants -> more severe
  • assoc w/ meningomyelocele, hydrocephalus and syringomyelia (all are very common)
66
Q
  • nml occurs in pts w/ CHF, liver failure, kidney failure, diuretics
  • s/s: rapidly evolving spastic para or quadriparesis w/ pseudobulbar symptoms (dysarthria or dysphagia) after administration of IV fluids
  • can experience “locked in syndrome”

Dx
Cause

A

Central pontine myelinolysis (aka osmotic demyelination syndrome)
-demyelination of the central pons following overly rapid correction of severe hyponatremia

67
Q

What embryological element forms the

  • dorsal part of the spinal cord -> sensory portion
  • ventral part of the spinal cord -> motor portion
A

Alar plate: dorsal part

Basal plate: ventral part

*neural tube -> spinal cord (divided into alar and basal plate)

68
Q

For a lumbar puncture (L4-5)
-skin -> fascia -> supraspinous ligament -> __________ -> interspinous ligament -> interlaminar space -> ___________ -> dura -> arachnoid -> subarachnoid space (where CSF is)

A

1) interspinous ligament

2) epidural space

69
Q

7 year old boy presents w/ progressively worsening uncoordinated arm and leg movement w/ slurred speech

  • nml bulk and tone but strength is decreased in Upper and Lower extremities
  • absent reflexes in all 4 limbs
  • has high arched feet and kyphoscoliosis
  • vibration and position sense are impaired

Dx
Mode of inheritance and gene affected
Cause

A

Friedreich ataxia

AR: frataxin gene (chromosome 9)-> GAA trinucleotide expansion

Demyelination of peripheral nerves, dorsal columns, corticospinal tracts, spinocerebellar tracts

70
Q

Pt presents w/

  • mental retardation
  • large ears and jaw
  • men: post-pubertal macro-orchidism
  • females: ADHD

Dx
Mutation

A

Fragile X syndrome

X linked dominant: CGG repeat

71
Q

Pt presents w/

  • movement abnml
  • emotional distrubance
  • cognitive impairment

Dx
Mutation
Prognosis

A

Huntington dz

AD: CAG repeat

Death in 10-15 years after onset

72
Q

What four areas of the brain are associed w/ the Papez Circuit?
-which one is the most earliest and most severely affected in alzheimer dz

A

1) hippocampus: most affected
2) mamillary body
3) thalamus
4) cingulate gyrus

73
Q

4 year old boy presents w/ HA, n/v,and poor peripheral vision

  • MRI: solid and cystic mass w/ focal calcifications
  • mass is filled with dark oily fluid

Dx
What embrologic element did it arise from

A

Craniopharyngioma

Remnants of rathkes pouch : nml forms the pituitary
-composed of cells that produce tooth enamels

74
Q

Pt gets a central ine catheter placed into R internal jugular vein but it si inadvertently pierced during the procedure and damages the structure located posterior to carotid sheath

-what would you see on PE d/t this

A

R sympathetic trunk lies posterior to carotid sheath -> these fibers synapse in superior cervical ganglion -> innervates dilator papillae ms -> constriction fo pupil (miosis)

75
Q

7 year old child presents w/ n/v and difficulty walking

  • PE: wide-based ataxic gait
  • CT: mass in cerebellar vermis
  • biopsy: rosette formation

Dx
What cell types are evident in the tumor

A

Medulloblastoma

  • cell types: neuronal and glial differentiation
    * primitive neuroectodermal tumor
  • predominantly pediatric and arise in cerebellar vermis
  • may stain positive for GFAP: stain for glial cells
76
Q

Atrophy of caudate nucleus in Huntington dz cause an increased _________ on CT

A

Lateral ventricle -> caudate nucleus is located right below it, so when it atrophies, they appear larger than nml

77
Q

What nerves passes through each of the following structures

  • pronator teres
  • Coracobrachialis
  • Flexor carpi ulnaris
  • Supinator
A
  • median n
  • musculocutaneous
  • ulnar
  • radial
78
Q

Pt presents w/ problems speaking. Each word takes him awhile to say and becomes easily frustrated when he cannot get the words out.
-He comprehends what others are saying just fine

Dx
What other s/s would you expect to discover on your PE

A

Brocas aphasia

-location: frontal lobe -> associated w/ right hemiparesis affecting the face and arm (d/t UMN damage) and dysarthria

79
Q

What structure in ms actively initiates the reflex arc ?

A
  • spindle afferents
  • ex. Tap patellar tendon -> stretches quadriceps ms -> activates spindle afferents -> dorsal root -> ventral horn -> s synapse w/ alpha motor neurons -> contraction
80
Q

Where does the CST decussate?

A

Medulla

81
Q

Sensorineural hearing loss (d/t loud sounds or otoxic dugs) damages with component of the auditory apparatus?

Presbycusis (age related hearing loss) is due to damage of what component of the auditory apparatus
-leads to what type of hearing loss

A

Both are due to damage of hair cells on organ of Corti

Presbycusis: high-frequency hearing loss

82
Q

Pt presention is between 55-60
-can present w/ progressive changes in behavior and personality -> leads to cognitive impairments
OR
-can present w/ speech and language abnml

Biopsy: cytoplasmic inclusion bodies
CT: cerebral atrophy

Dx
Where is the atrophy located

A

Pick dz

Fronto-temporal atrophy

83
Q

20 year old pt presents w/ sudden onset of severe HA, n/v, and neck stiffness

  • PMH: recurrent epistaxis during childhood, episodic seizures, melena, and iron deficiency anemia
  • PE: multiple red lesions on pts face and palate
  • labs: increased HCT

Dx
Mode of inheritance
What complication is causing pts current symptoms

A

Hereditary hemorrhagic telangiectasia (HHT): aka osler weber rendu syndrome
-theses pts develop large AVM in brain, lungs and liver -> Seizures, secondary polycythemia and subarachnoid hemorrhage

AD

Pts has subarachnoid hemorrhage

84
Q

Pt presents in 20-40

  • s/s: choreoathetosis (involuntary, jerky movements), dementia, personality changes -> eventually develop difficulty ambulatin, dressing, and eating
  • CT shows caudate nuclei degeneration and hydrocephalus ex vacuo

Dx
Mode of inheritance
Defect

A

Huntington dz
AD
CAG trinucleotide repeat
*shows anticipation

85
Q
  • multiple lumps/ nodules just below skin surface
  • small pigmented nodules on surface of iris
  • numerous tan patches on skin

Dx
Mode of inheritance

A

Neurofibromatosis type 1

  • neural tumors
  • cafe au lait spots
  • lisch nodules
  • CAFE-SPOT
  • cafe au lait spots
  • axiallary freckling
  • eye lesions: lisch nodules
  • scoliosis
  • pheochromocytoma
  • optic tumors (gliomas)

Autosomal dominant -> nf1 on chromosome 17

86
Q

2 year old boy presents w/

  • tumor: small round cells and ganglion cells in fibrillary pink matrix
  • tumor is located in adrenal medulla and nml crosses midline (unlike Wilms)
  • he can walk but is clumsy
  • non - rythmic conjugate eye movements
  • ataxic gait and LE muscle hypotonia

Dx
Genetic mutation
What would you expect to be elevated in serum/urine

A

Opsoclonus-myoclonus syndrome w/ neuroblastoma

Mutation: MYCN gene amplification

Increased urine/serum homovanillic acid (dopamine byproduct)

87
Q

Pt presents w/

  • left sided motor hemiplegia
  • lower facial paralysis (spares forehead and sensation is intact)

Where is the lesion

A

Body + facial paralysis -> brain (must be contralateral)

MC location: right lacunar infarct in internal capsule
- risk factors: HTN, diabetes

**UMN: forehead is spared

88
Q
  • b/l acoustic neuromas
  • meningioma
  • juvenilae cataracts

Dx
mode of inheritance

A

Neurofibromatosis type II

- AD mutation in NF2 -> chromosome 22

89
Q
  • nevus flammeus
  • leptomeningeal vascular malforamtion
  • cortical calcifications
  • glaucoma
  • seizures

DX
Mode of inheritance

A

Sturge-weber dz
*port-wine stain: over V1/V2

Sporadic

90
Q

3 year old girl is brought in bc of delayed motor and mental development

  • painless, palpable abd mass that does not cross the midline
  • HTN

Dx
What syndrome is is assoc w/ and what s/s would you expect to see?

A

Wilms tumor

WAGR syndrome -> deletion in WTI

  • wilms tumor
  • aniridia
  • genitourinary malformation
  • mental retardation
91
Q

Subfalcine herniation causes damage to?

A

Cingulate gyrus

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